The patient presents criteria for Thrombotic Thrombocytopenic Purpura (TTP): 1. Neurological alteration. 2. Febrile syndrome (fever). 3. Coombs negative migroangiopathic hemolytic anemia (presence of schistocytes). 4. Thrombopenia.

A 35-year-old woman, taking contraceptives, comes to the emergency department with febrile syndrome and paresthesias in the left hemibody. Blood tests showed Hb 7.5 g/dL, platelets 7,000/microl, normal leukocytes with normal differential count, LDH 1,200 IU/l, reticulocytes 10% (normal 0.5-2%), undetectable serum haptoglobin, negative direct Coombs' test and peripheral blood smear with schistocytes. Coagulation (prothrombin time and APTT) normal. Which of the following is the most likely diagnosis:

Pseudo-thrombotic thrombocytopenic purpura: A rare presentation of pernicious anemia.

Schistocytes are fragmented red blood cells due to the flow of blood through damaged capillaries and indicate endothelial injury. They are typical of microangiopathic hemolytic anemia seen in life threatening conditions like disseminated intravascular coagulation or thrombotic thrombocytopenic purpura/hemolytic uremic syndrome .We report a rare sub-acute presentation of pernicious anemia with hemolysis, thrombocytopenia and numerous schistocytes that was initially diagnosed as a more serious thrombotic thrombocytopenic purpura. A 31-year-old Caucasian woman presented with fatigue and paresthesia of both feet for 1 week. Past medical history included hypertension and gastro-esophageal reflux disease. Examination revealed scleral icterus and pallor. Examination of the abdomen did not show hepatosplenomegaly. Initial laboratory tests showed severe anemia, and low platelets. Indirect bilirubin and serum Lactate De Hydrogenase were elevated. Prothrombin time, partial thromboplastin time, serum fibrinogen, and serum fibrin degradation product levels were normal. Peripheral smear revealed numerous schistocytes, anisocytosis and macro-ovalocytes. Thrombotic thrombocytopenic purpura (TTP) was suspected due to the constellation of sub-acute onset of fatigue and paresthesia along with thrombocytopenia, schistocytes and an elevated LDH. Plasmapheresis was initiated for possible TTP. However, platelet count worsened despite plasmapheresis for 4 days. On re-evaluation, vitamin B(12) was found to be low. Treatment with intra-muscular vitamin B(12) led to symptomatic and hematologic improvement. Pernicious anemia was confirmed by the presence of anti-intrinsic factor antibodies, elevated serum gastrin level and atrophic gastritis. Clinicians must be aware of unusual clinical presentation of vitamin B(12) deficiency with schistocytes as the management is simple and effective.

[An elderly case of thrombotic thrombocytopenic purpura].

A 78-year-old woman was admitted to our hospital because of disorientation and fever on January 21, 1992. Two days before admission she experienced vomiting, anorexia and general malaise. Laboratory examinations on admission disclosed a hemoglobin level of 11.1 g/dl and a platelet count of 8,000/microliters. The peripheral blood smear revealed anisocytosis with numerous schistocytes and poikilocytes. Polychromatophilic and nucleated red blood cells were also seen, and the reticulocyte count was 38/1000. Her serum lactate dehydrogenase (LDH) value was 2,977 WU and the total serum bilirubin level was 3.5 mg/dl with 2.7 mg/dl indirect reacting fraction. Serum creatinine was 4.7 mg/dl. Her consciousness became semicomatose after a systemic seizure which lasted approximately 15 seconds and her hemoglobin level decreased to 8.5 g/dl on hospital day 2. Therefore, we diagnosed her as having thrombotic thrombocytopenic purpura (TTP) because of the presence of all 5 features, that is, thrombocytopenia, microangiopathic hemolytic anemia, fluctuating neurologic abnormalities, renal dysfunction and fever. A plasmapheresis with fresh frozen plasma (FFP) replacement was begun on that day. She was also treated with anti-platelet agents, 80 mg/day aspirin, and 300 mg/day dipyridamole. Moreover, packed red blood cells (PRC) were infused. While also receiving diphenylhydantoin and phenobarbital to prevent convulsions, status epilepticus developed on day 3. Because of inhibited spontaneous respiration which was an adverse effect derived from diazepam and sodium thiamylal administered intravenously to treat the status epilepticus, an artificial respiration was initiated.(ABSTRACT TRUNCATED AT 250 WORDS)

[Metastatic prostate cancer complicated with chronic disseminated intravascular coagulopathy causing acute renal failure, mimicking thrombotic thrombocytopenic purpura and hemolytic uremic syndrome: pathomechanism, differential diagnosis and therapy related to a case].

Disseminated intravascular coagulopathy (DIC) is characterized as activation of the clotting system resulting in fibrin thrombi, gradually diminishing levels of clotting factors with increased risk of bleeding. Basically two types of DIC are distinguished: (1) chronic (compensated) - with alteration of laboratory values and (2) acute (non-compensated) - with severe clinical manifestations: bleeding, shock, acute renal failure (ARF), transient focal neurologic deficit, delirium or coma. Chronic DIC related to metastatic neoplasia is caused by pancreatic, gastric or prostatic carcinoma in most of the cases. Incidence rate of DIC is 13-30% in prostate cancer, among those only 0.4-1.65% of patients had clinical signs and symptoms of DIC. In other words, chronic DIC is developed in one of eight patients with prostate cancer. DIC is considered as a poor prognostic factor in prostatic carcinoma. The similar clinical and laboratory findings of TTP-HUS (thrombotic thrombocytopenic purpura - hemolytic uremic syndrome) and DIC makes it difficult to differentiate between them. A 71 years old male patient with known chronic obstructive pulmonary disease, benign prostatic hyperplasia, significant carotid artery stenosis, gastric ulcer and alcoholic liver disease was admitted to another hospital with melena. Gastroscopy revealed intact gastric mucosa and actually non-bleeding duodenal ulcer covered by clots. Laboratory results showed hyperkalemia, elevated kidney function tests, indirect hyperbilirubinemia, increased liver function tests, leukocytosis, anemia, thrombocytopenia and elevated international normalized ratio (INR). He was treated with saline infusions, four units of red blood cells and one unit of fresh frozen plasma transfusions. Four days later he was transported to our Institution with ARF. Physical examination revealed dyspnoe, petechiae, hemoptoe, oliguria, chest-wall pain and aggressive behavior. Thrombocytopenia, signs of MAHA (fragmentocytes and helmet cells in the peripheral blood), normal INR, elevated lactate dehydrogenase (LDH) and ARF suggested TTP-HUS. Hemodialysis and six plasmaferesis (PF) were carried out. After the fifth PF, skin manifestations of thrombotic microangiopathy occurred on the feet. Clotting analysis revealed elevated D-dimer (>5 μg/mL), normal fibrinogen (3.2 g/L), a slightly raised INR (1.36) and activated partial prothrombin time (APTT) (45.8 sec), normal reticulocyte (57 G/L) and a slightly low platelet count (123 G/L), which proved to be chronic DIC. Therapeutic dose of low-molecular-weight heparin (LMWH) was started. Elevated prostate-specific antigen (PSA) (109.6 ng/mL) suggested prostatic carcinoma. Prostate biopsy revealed adenocarcinoma (Gleason: 4+4 for left lobe and 3+3 for right lobe). Elevated alkaline phosphatase suggested metastases in the bone, which were confirmed by bone scintigraphy. Combined androgen blockade (CAB) was started. After three months follow-up our patient's status is satisfactory. PSA is in the normal range (4.6 ng/mL). Thrombocytopenia of uncertain origin with normal or raised INR, APTT, elevated D-dimer, normal fibrinogen and reticulocyte count prove the diagnosis of chronic DIC. This process warrants searching for metastatic neoplasia. Due to the relatively low serum levels of circulating procoagulant factors (e.g. tissue factor), therapeutic dose of LMWH can be used with good efficiency in chronic DIC with low risk of bleeding. Severe DIC as a complication of metastatic prostate cancer can be treated by androgen deprivation therapy (ADT) or CAB in combination with ketokonazole and concomitant use of supportive treatment. Deme D, Ragán M, Kovács L, Kalmár K, Varga E, Varga T, Rakonczai E. Metastatic prostate cancer complicated with chronic disseminated intravascular coagulopathy causing acute renal failure mimicking thrombotic thrombocytopenic purpura and hemolytic uremic syndrome: pathomechanism, differential diagnosis and therapy related to a case.

[Hemolytic anemia and thrombocytopenia associated with anti-omeprazole antibody].

An 80-year-old woman was admitted with anemia, jaundice and a bleeding tendency about 5 weeks after starting omeprazole. On admission, the hemoglobin was 6.4 g/dl, platelets 0.1 x 10(4)/microliter, leukocyte count 7,500/microliter, and reticulocyte count 325/1000. The total bilirubin was 1.9 mg/dl, indirect bilirubin 0.6 mg/dl, lactate dehydrogenase 572 IU/l, and haptoglobin < 10 mg/dl. Both the direct and the indirect Coombs' tests were positive. The platelet-associated IgG (PAIgG) was 1,100.0 ng/10(7) cells. A decrease in the complement value was observed. There was an increase in the number of megakaryocytes and erythroblasts in the marrow film. After omeprazole administration was halted, her hemoglobin and platelet levels gradually returned to normal. On the 27th hospital day, the direct Coombs' test was positive but the indirect Coombs' test became negative. The PAIgG value also returned to normal, and she was discharged on the 59th hospital day. The acute phase of the drug-induced lymphocyte stimulation test was negative, however, we detected the IgG antibody to omeprazole. In the recovery phase, the IgG value decreased. Forty days after discharge, the direct Coombs' test had become negative. This is apparently the first report of a patient with acute hemolytic anemia and thrombocytopenia due to omeprazole through an immune complex mechanism.

[Autoimmune hemolytic anemia with eosinophilia in elderly patient].

A 70-year-old woman was admitted to our hospital in November 1992 for evaluation of anemia. Physical examination revealed anemia, jaundice, swelling of axial and inguinal lymph nodes, and splenomegaly. Abnormal hematological findings were as follows: Hb of 3.9 g/dl, reticulocyte count of 58.2% (61.7 x 10(4)/microliters), hyperplasia of normal erythroblasts in bone marrow, and eosinophilia (21.0%, 2352/microliters) in peripheral blood. Routine laboratory examinations revealed polycolonal hypergammaglobulinemia 3.0 g/dl, a high level of serum LDH (797 IU/I) and a total bilirubin of 2.4 mg/dl (indirect, 1.6 mg/dl). The serum haptoglobin level was very low (< 5 mg/dl). Results of serological examinations were as follows: IgG of 3366 mg/dl, CH50 of 16.0 U/ml, positive Coombs test 2+, and positive tests for antinuclear antibody, rheumatoid factor, and cold agglutinin. CRP was negative. PHA-stimulated lymphocyte blast formation, NK activity, and ADCC activity were found to be suppressed, and the percentage of CD4-positive lymphocytes in peripheral blood was also low. An axillary lymph node biopsy revealed reactive lymphadenitis. No signs or history suggested allergy, collagen disease, or parasitic infection. Autoimmune hemolytic anemia (AIHA) complicated by immunologic abnormalities and eosinophilia was diagnosed. Oral prednisolone markedly reduced the hemolytic anemia, eosinophilia, lymph node swelling, and splenomegaly, but NK activity remained low.

Et Tu, B12? Cobalamin Deficiency Masquerading As Pseudo-Thrombotic Microangiopathy.

Vitamin B12 deficiency is classically associated with megaloblastic anemia. Possible cobalamin deficiency is not investigated once hemolysis is seen. Around 2.5% of cases can present as pseudo-thrombotic microangiopathy (TMA). A swift identification of this means the difference between an easy solution and a protracted one for the patient. A 74-year-old man with no past medical history presented with exertional dyspnea, fatigue, and increasing anorexia over two weeks. Physical examination including a neurological examination was normal. Laboratory tests revealed pancytopenia, unconjugated hyperbilirubinemia, elevated LDH (lactate dehydrogenase), low haptoglobin, and fragmented red blood cells (RBCs) on the peripheral smear, but normal FDP (fibrinogen degradation product) and fibrinogen. The absolute reticulocyte count was reduced as opposed to the expected elevation. Vitamin B12 levels were undetectable, and severe cobalamin deficiency from pernicious anemia was found to be the paramount etiology. Cobalamin deficiency causing pseudo-TMA baffles most physicians. Advanced pernicious anemia is thought to cause intramedullary hemolysis, resulting in peripheral pancytopenia. The fragile RBCs are easily sheared, producing schistocytosis without platelet microthrombi. In contrast to hemolytic anemias, reticulocyte count is low given the unavailability of B12 for erythropoiesis. Reticulocytopenia is a universal finding in cases of pseudo-TMA. Around 38.8% of cases with pseudo-TMA are misdiagnosed as thrombotic thrombocytopenic purpura and treated with plasma product therapy. Keeping an eye out for reticulocytopenia in cases of hemolysis could mean a world of difference for the patient.

Thrombotic microangiopathy

Diagnosis CBC and blood film: decreased platelets and schistocytes PT, aPTT, fibrinogen: normal markers of hemolysis: increased unconjugated bilirubin, increased LDH, decreased haptoglobin negative Coombs test. Creatinine, urea, to follow renal function ADAMSTS-13 gene, activity or inhibitor testing (TTP).

Schistocyte

Schistocyte count A normal schistocyte count for a healthy individual is <0.5% although usual values are found to be <0.2%. A schistocyte count of >1% is most often found in thrombotic thrombocytopenic purpura, although they are more often seen within the range of 3–10% for this condition. A schistocyte count of <1% but greater than the normal value is suggestive of disseminated intravascular coagulation, but is not an absolute diagnosis. The standard for a schistocyte count is a microscopic examination of a peripheral blood smear.

Thrombotic Thrombocytopenic Purpura: Revisiting a Miss and an Inevitable Consequence.

Thrombotic thrombocytopenic purpura (TTP) is typically characterized by the symptomatic pentad of fever, thrombocytopenia, microangiopathic hemolytic anemia, neurologic abnormalities, and renal failure. Atypical TTP is the diagnosis used to describe the subset of patients with TTP who present with symptoms that deviate from the classic pentad. We report a case an 86-year-old woman who presented to the emergency department complaining of chest pain for one day. She was reportedly on antibiotics for sinus infection. Physical examination revealed multiple bilateral superficial hematomas, predominantly on her extremities. On admission, her lab values were as follows: platelet count of 6,000/cubic millimeter, hemoglobin of 10.4 grams/deciliter, leukocyte count of 5100 cells/cubic millimeter, total bilirubin of 2.3 milligrams/deciliter, and troponin-I of 5.190 nanograms/milliliter. Peripheral blood smear was normal and did not reveal any schistocytes. The patient was admitted to the intensive care unit with a diagnosis of a non-ST-elevation myocardial infarction and a presumed diagnosis of immune thrombocytopenic purpura from antibiotic use. She was treated with intravenous solumedrol and a high-intensity statin. On the third day of her admission, the patient's mental functioning deteriorated and was intubated to protect her airway. A second peripheral smear revealed schistocytes, and subsequent laboratory studies supported the diagnosis of TTP. Plasma exchange therapy was planned. However, the patient succumbed to cardiac arrest before it could be initiated. The diagnosis was later confirmed with an ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) assay.  This case serves as an example of one of the many ways in which TTP can present, and emphasizes the importance of considering TTP as a differential diagnosis.

[Hemolytic anemias in adults].

The erythrocyte lifespan in haemolytic anemia is shortened while erythropoesis is increased. Important labaratory findings are increased reticulocytes, LDH, indirect bilirubin and a decreased haptoglobin level. The most important diagnostic tool for further work up of hemolytic anemia is the direct antiglobulin test (DAT, Coombs test) to differentiate autoimmune hemolytic anemia (AIHA) from other causes. Another important group are fragmentation syndroms (hemolytic uremic syndrome and thrombotic thrombocytopenic purpura). In these forms of haemolytic anemia fragmented red blood cells can be found in the blood smear together with thrombocytopenia. A severe problem in paroxysmal nocturnal hematuria is the incidence of thrombosis. The following review describes the most important forms of hemolytic anemia in the adult and the diagnostic and therapeutic strategies.

Thrombotic thrombocytopenic purpura without schistocytes on the peripheral blood smear.

A hallmark of the clinical syndrome of thrombotic thrombocytopenic purpura (TTP) is evidence of microangiopathic hemolytic anemia. The presence of schistocytes on the peripheral blood smear, elevated plasma lactic dehydrogenase, and decreased haptoglobin concentration are used as evidence of microangiopathic hemolytic anemia to make a diagnosis of TTP. This report describes a case of recurrence of TTP in the absence of schistocytes in the peripheral blood smear during the recurrent episode. Although careful attention should be paid to microscopic examination of a blood smear in any patient presenting with acute renal failure and thrombocytopenia, this case emphasizes the need to consider TTP-hemolytic uremic syndrome in the differential diagnosis, even in the absence of peripheral schistocytosis.

[Emergency blood picture].

Assessment of peripheral blood counts and blood film analysis are frequently performed as diagnostic procedures in emergency medicine. Far fewer situations exist, however, in which these analyses are the main clue in establishing an emergency diagnosis. Artifacts can lead to wrong diagnosis, e.g. pseudo-thrombocytopenia, which is defined as a low platelet count resulting from a laboratory artifact. Severe neutropenia (agranulocytosis) and extreme hyperleukocytosis, as well as suspicion of acute leukemia, require a rapid diagnostic work-up. A newly detected anemia should not necessarily be treated by packed red cell transfusions. The decision whether an anemic patient ought to receive transfusions should be based on the speed with which the anemia has developed, as well as on clinical judgement. As a rule a chronic anemia patient with hemoglobin above 70 g/l does not need transfusions. An uncritical transfusion policy can even cause emergencies, e.g. in patients with megaloblastic anemia or in anemic multiple myeloma patients with a hyperviscosity syndrome. An elevated hematocrit requires prompt further investigations. This is of utmost importance if one considers the diagnosis of polycythemia vera rubra, a disease in which patients are particularly prone to thrombotic complications. Fragmented red cells (schistocytes) on peripheral blood smears constitute a cardinal diagnostic clue for the detection of microangiopathic hemolytic anemias (MAHA), in particular for the diagnosis of the life-threatening thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). Malaria is another example for a chief role of blood smears examination in achieving a rapid diagnosis. If one encounters an unexpected severe thrombocytopenia, a marrow examination reveals whether it is due to rapid peripheral destruction, or due to a marrow failure. Furthermore, in any patients with an unanticipated thrombocytopenia, a disseminated intravascular coagulation and a MAHA should be ruled out. Heparin-induced thrombocytopenia is a rare, but possibly fatal complication of therapy with heparins.

[Thrombotic thrombocytopenic pupura (TTP)--remission following treatment with high-dose immunoglobulin].

A 60-year-old man was admitted to our hospital because of fever, hemorrhagic tendency, anemia and neurological abnormality. A blood count revealed that the hemoglobin was 6.8 g/dl, the reticulocyte was 17.3 percent with 2 erythroblasts per 100 white cells, the white cell count was 7,100/microliters and the platelet count was 0.8 x 10(4)/microliters. Peripheral blood smear demonstrated marked fragmentation of red cells. Bone marrow examination disclosed the marked erythroid hyperplasia. Although the bleeding time was prolonged (14 minutes 30 seconds), the other hemostatic data were within normal limits. The serum bilirubin level was 1.57 mg/dl; LDH level, 1,437 U/l; creatinine level, 0.92 mg/dl; BUN level 14.7 mg/dl. Haptoglobin was below 10 mg/dl. Results of immunological tests were all negative except the result of PAIgG (576.6 ng/10(7) cells). The urinalysis showed proteinuria, microhematuria and trace granular and hyaline casts. A diagnosis of thrombotic thrombocytopenic purpura was made. The patient was initially treated with prednisolone (60 mg), aspirin (1,000 mg), dipyridamole (150 mg), gabexate mesilate (1.5 g), sodium oxagrel (80 mg) daily with little response. The thirty days after admission, infusion of gamma globulin (20 g, daily) was given for 3 days. The clinical state and laboratory findings became dramatically improved shortly after the administration of gamma globulin and the laboratory data came to be normalized after 1 month. After ten months of this treatment, the patient is remained asymptomatic and the hematological data are within normal range without using any drug. A trial seems justified to confirm the value of this mode of therapy.

Frequency and significance of schistocytes in TTP/HUS patients at the discontinuation of plasma exchange therapy.

Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS) is characterized by thrombocytopenia, a microangiopathic hemolytic anemia (presence of schistocytes) and elevated LDH without another likely explanation. Standard of care is daily plasma exchange, which is typically discontinued when the platelet count exceeds 100-150 x 10(9)/L for 2 days. However, residual schistocytosis, the presence of schistocytes at the time of discontinuation of plasma exchange therapy, is often disconcerting. We evaluated the frequency and significance of residual schistocytosis in TTP/HUS patients when the patients' platelet counts returned to normal levels (e.g., 100-150 x 10(9)/L). Retrospective review in our institution from 01/1999-03/2004 of all patients treated with plasma exchange for TTP/HUS with at least 2 months of follow-up for relapse was completed. Patients were excluded if the clinical course was complicated by HIV, stem cell/bone marrow and solid organ transplant, pregnancy and auto-immune disease. Schistocytes were documented on day of presentation and on the day the platelet count reached 150 x 10(9)/L. Grading scale (using 100 x objective-a high power field, with approximately 100 red blood cells per field) for schistocytes was as follows: rare for 1 schistocyte per every other other field, 1+ for 1-5%, 2+ for 6-15%, and 3+ for >15%. The frequency of schistocytes was compared to frequency of relapse within 2 months, using Fisher's exact test. We identified 57 patients with TTP/HUS who received plasma exchange therapy. Of these patients, 12 did not have a follow-up microscopic examination of a peripheral blood smear at discontinuation of plasma exchange therapy and were excluded from further analysis. Of the remaining 45 patients, 16 had residual schistocytosis (35.6%). There was no statistically significant difference in relapse rate with or without residual schistocytosis (P = 1.00, Fisher's Exact test, 2 sided). In this study, we found that the presence of residual schistocytosis is common (35.6%). The presence of residual schistocytosis, however, was not predictive of relapse.

Thrombotic Microangiopathy in a Severe Pediatric Case of COVID-19.

In this case report, we report a pediatric patient with COVID-19 and atypical hemolytic uremic syndrome (aHUS). A 3-year-old girl with fever and respiratory distress was admitted to the hospital. The patient tested positive for COVID-19 by a PCR test. As her respiratory distress increased and blood gas indicated deep respiratory acidosis on the third day of the pediatric intensive care unit follow-up, the patient was intubated and ventilated. Thorax computerized tomography (CT) showed bilateral effusion and atelectasis. During her follow-up, the pleural effusion resolved but there were marked consolidation areas and ground glass opacities compatible with COVID-19 on the follow-up CT. On the 10th day, she became anuric and developed progressive thrombocytopenia and persistent microangiopathic hemolytic anemia, which were suggestive of HUS given a high creatinine level (1.9 mg/dl), an undetectable haptoglobin level, reticulocytosis (8%), and an LDH level of 2540 U/l. Direct Coombs test returned negative. Examination of a peripheral blood smear revealed schistocytes. Disseminated intravascular coagulation was ruled out by normal INR and PTT. In the light of the available findings, we considered the patient to have thrombotic microangiopathy (TMA) triggered by COVID-19. It was not a TTP-form of TMA but rather an aHUS type, based on an ADAMTS13 activity level >5%. Hence, plasmapheresis was performed with fresh frozen plasma (FFP). After 4 weeks, she became completely asymptomatic, and her hemodynamic parameters normalized. COVID-19 induced uncontrolled complement activation leading to the development of aHUS. Early diagnosis and treatment may reduce morbidity and mortality since its treatment options.

Upshaw–Schulman syndrome

Diagnosis A diagnosis of TTP is based on the clinical symptoms with the concomitant presence of thrombocytopenia (platelet count below 100×109/L) and microangiopathic hemolytic anemia with schistocytes on the blood smear, a negative direct antiglobulin test (Coombs test), elevated levels of hemolysis markers (such as total bilirubin, LDH, free hemoglobin, and an unmeasurable haptoglobin), after exclusion of any other apparent cause. USS can present similar to the following diseases, which have to be excluded: fulminant infections, disseminated intravascular coagulation, autoimmune hemolytic anemia, Evans syndrome, the typical and atypical form of hemolytic uremic syndrome, HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome, pre-eclampsia, heparin-induced thrombocytopenia, cancer that is often accompanied with metastasis, kidney injury, antiphospholipid antibody syndrome, and side effects from hematopoietic stem cell transplantation.

[Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years].

A boy, aged 3 years and 8 months, had recurrent thrombocytopenia with hemolytic anemia for more than 3 years. The physical examination showed no enlargement of the liver, spleen, and lymph nodes or finger deformities. Laboratory results showed a negative result of the direct antiglobulin test, normal coagulation function, and increases in bilirubin, lactate dehydrogenase and reticulocytes. The results of von Willebrand factor-cleaving protease ADAMTS13 activity assay showed extreme deficiency, and antibody assay showed negative ADAMTS13 inhibitory autoantibodies. Next-generation sequence showed compound heterozygous mutation in the <iADAMTS13</i gene. The boy was diagnosed with congenital thrombotic thrombocytopenic purpura. This disease may be easily misdiagnosed as Evans syndrome and is difficult to diagnose in clinical practice. The child had developed the disease since birth, but it took 3 years to make a confirmed diagnosis. Therefore, congenital thrombotic thrombocytopenic purpura should be considered for children with jaundice at birth, recurrent thrombocytopenia with hemolytic anemia, and negative results of the direct antiglobulin test. The detection of ADAMTS13 activity and ADAMTS13 inhibitory autoantibodies should be performed as soon as possible for a definite diagnosis, and gene detection should be performed to make a confirmed diagnosis when necessary.

[Successful delivery following treatment with plasma exchange in a female patient with thrombotic thrombocytopenic purpura].

We report here on a case of a 27-year-old woman in her first pregnancy. She was diagnosed with idiopathic thrombocytopenic purpura (ITP) at the age of 14 years. At 36 weeks of gestation, she was admitted to our hospital due to thrombocytopenia. We initially suspected ITP exacerbated by pregnancy. Laboratory results revealed mild anemia, thrombocytopenia (5.0×10(9)/l), and slightly elevated liver enzymes and lactate dehydrogenase. The next day, hemoglobin fell to 6.6 g/dl. Thrombotic thrombocytopenic purpura (TTP) was suspected on the basis of hemolytic anemia with schistocytes and a negative Coombs' test. Plasma exchange and methylprednisolone were initiated immediately. ADAMTS13 analysis showed a severe deficiency in ADAMTS13 activity but no inhibitors. At Day 6, the platelet count rose to 223×10(9)/l and she delivered a live baby by cesarean section. Currently, the patient receives fresh frozen plasma infusions every 2 weeks due to suspected Upshaw-Schulman syndrome.

Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia.

<iIntroduction</i. Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported. <iCase Report</i. A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests' results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear. Low ADAMTS13 activity (<10%) with elevated ADAMTS13 antibody clinched the diagnosis of severe acquired TTP, and plasmapheresis was started. There was an initial improvement in his hematological markers, which were however not sustained on discontinuation of plasmapheresis. For his refractory TTP, he was resumed on daily plasmapheresis and Rituximab was started. Furthermore, the initial serum Vitamin B12 and reticulocyte index were low in the presence of anti-intrinsic factor antibody. So with the concomitant diagnosis of pernicious anemia, Vitamin B12 was supplemented. The rest of the immunological workups were negative. Subsequently, his symptoms resolved and his hematological parameters improved. <iDiscussion</i. While pernicious anemia can masquerade as TTP, an actual association between the two can also occur and needs further evaluation and characterization.

InternalMed_Harrison

TTP is a devastating disease if not diagnosed and treated promptly. In patients presenting with new thrombocytopenia, with or without evidence of renal insufficiency and other elements of classic TTP, laboratory data should be obtained to rule out DIC and to evaluate for evidence of microangiopathic hemolytic anemia. Findings to support the TTP diagnosis include an increased lactate dehydrogenase and indirect bilirubin, decreased haptoglobin, and increased reticulocyte count, with a negative direct antiglobulin test. The peripheral smear should be examined for evidence of schistocytes (Fig. 140-1D). Polychromasia is usually also present due to the increased number of young red blood cells, and nucleated RBCs are often present, which is thought to be due to infarction in the micro-circulatory system of the bone marrow.

InternalMed_Harrison

Platelet count < 150,000/˜L Hemoglobin and white blood count Normal Abnormal Bone marrow examination Peripheral blood smear Platelets clumped: Redraw in sodium citrate or heparin Fragmented red blood cells Normal RBC morphology; platelets normal or increased in size Microangiopathic hemolytic anemias (e.g., DIC, TTP) Consider: Drug-induced thrombocytopenia Infection-induced thrombocytopenia Idiopathic immune thrombocytopenia Congenital thrombocytopenia first appear in areas of increased venous pressure, the ankles and feet in an ambulatory patient. Petechiae are pinpoint, nonblanching hemorrhages and are usually a sign of a decreased platelet number and not platelet dysfunction. Wet purpura, blood blisters that form on the oral mucosa, are thought to denote an increased risk of life-threatening hemorrhage in the thrombocytopenic patient. Excessive bruising is seen in disorders of both platelet number and function.

[Idiopathic thrombocytopenic purpura in children].

Idiopathic (immune) thrombocytopenic purpura (ITP) is the most frequent hemorrhagic disease in children. It represents the acquired megakaryocytic thrombocytopenia with the shortened life of platelets because of immunologic damage (antibodies absorbed by platelets). In the case of this acquired hemorrhagic disorder, in spite of compensatory increased function of the bone marrow, there is a reduced number of platelets because of their increased destruction by the reticuloendothelial system (destructive thrombocytopenia). There are three forms of ITP: acute, chronic and intermittent. The acute form occurs in 80-90% of cases with bleeding episodes lasting a few days or weeks, but no longer than 6 months. The chronic form occurs in 10-15% of children, while the rarest-intermittent form is characterized by periods of normalization in regard to the number of platelets but also with relapse in intervals of 1-3 months. The disease is caused by an immunological disorder in the sense of an imbalanced immune response. Immunologic damages of platelets cause shortening of the opsonized platelets life span. The most frequent platelet opsonins are the immumoglobulin G (IgG) antibodies directed at the platelet membrane in the form of autoantibodies, alloantibodies or possibly absorbed antigen caused by microorganism infection or drug intake. It is typical for the phenomenon of bleeding that it starts suddenly and without any other sign of illness. The most frequent acute form appears between the second and fourth year, and is characterized by seasonal occurrence usually after acute viral infections. Children older than 10 years of age, like adults, often have the chronic form associated with other immunologic disorders. The disease affects girls more often than boys (about three times more often) with moderate and constant increase of antiplatelet antibodies. Hemorrhagic manifestations include: petechiae, purpura, epistaxis, gastrointestinal and genitourinary bleeding. They depend on the grade of thrombocytopenia, although there is no strict correlation between the number of platelets and volume of bleeding. Low mortality of the acute ITP is almost exclusively due to intracranial hemorrhage. LABORATORY STUDIES: Thrombocytopenia represents a decrease in the number of blood platelets being a basic abnormality of the blood count. The half-life of platelets in ITP is shortened. Detection of antiplatelet antibodies is connected with technical difficulties, so they are established in about 30% of cases. Bleeding time is prolonged and so is the coagulum retraction which may be completely missed. The Rumpel-Leede test is positive. Clinical differentiation of drug-induced thrombocytopenia is not possible. However, other differential diagnostic possibilities are thrombotic-thrombocytopenic purpura and hemolytic-uremic syndrome. A child with aplastic anemia or acute leukemia, beside thrombocytopenia, has a characteristic finding of white and red blood cell count. Thrombocytopenia with absent radii syndrome is associated with skeletal system abnormalities. New knowledge about the role of the immune system in ITP determines the modern therapeutic modalities. In cases of acute ITP in children, there are two therapeutic options or therapies of choice: corticosteroids and high doses of intravenous immunoglobulin. Immunosupressive therapy means anti Rh(D) immunoglobulin, cyclosporine, cytostatics, danazol, loaded platelets. In cases of distinctive hemorrhagic syndrome there are also indications for platelet transfusion. Nowadays splenectomy is more restricted, because one third of cases is unsuccessful, whereas plasmapheresis is rarely used in children because of possible complications. ITP is the most frequent hemorrhagic disease in children. The disease is basically caused by an immunologic disorder with platelet destruction due to increased immunoglobulin on their membrane. (ABSTRACT TRUNCATED)

Hemolytic anemia

suggest paroxysmal nocturnal haemoglobinuria. Direct examination of blood under a microscope in a peripheral blood smear may demonstrate red blood cell fragments called schistocytes, red blood cells that look like spheres (spherocytes), and/or red blood cells missing small pieces (bite cells). An increased number of newly made red blood cells (reticulocytes) may also be a sign of bone marrow compensation for anemia. Laboratory studies commonly used to investigate hemolytic anemia include blood tests for breakdown products of red blood cells, bilirubin and lactate dehydrogenase, a test for the free hemoglobin binding protein haptoglobin, and the direct Coombs test to evaluate antibody binding to red blood cells suggesting autoimmune hemolytic anemia.

Immune Thrombocytopenia Purpura Secondary to COVID-19.

A 73-year-old female with past medical history of essential hypertension, hyperlipidemia, seasonal allergies, and chronic back pain presented to the hospital with complaints of headaches, fevers, fatigue, generalized body aches, shortness of breath, and diarrhea. Initial complete blood count was remarkable for leukopenia with an absolute lymph count of 0.60 K/µL and severe thrombocytopenia (platelet count < 3 K/µL). She was tested for COVID-19 via nasopharyngeal swab polymerase chain reaction (PCR) testing and found positive. Additional labs showed an elevated D-dimer, C-reactive protein, fibrinogen, and lactate dehydrogenase. Vitamin B12 and folate levels were obtained and found to be normal. Peripheral smear showed no schistocytes or additional hematologic abnormalities apart from thrombocytopenia. The patient was transfused one unit of platelets with no improvement in platelet count. Fibrinogen count was obtained and found in normal range at 458 mg/dL. Prothrombin time (PT), activated partial thromboplastin time (aPTT), and international normalized ratio (INR) were all found to be normal. Immune thrombocytopenia purpura (ITP) was suspected and intravenous immunoglobulin (IVIG) was administered at a dose of 1 g/kg/day for two doses. By day 4, the patient had marked response to treatment with platelet recovery to 105 K/µL and subsequently discharged by day 5 with complete resolution of symptoms and platelet count of 146 K/µL. Twenty-eight days after discharge, she presented to hematology clinic with platelet count of 8 K/µL. Repeat nasopharyngeal swab PCR COVID testing was negative and she was treated with IVIG and pulse dexamethasone with prompt response, confirming suspicion of underlying, undiagnosed ITP prior to COVID infection.

First_Aid_Step2

A clinical syndrome characterized by f ve signs/symptoms: low platelet count, microangiopathic hemolytic anemia, neurologic changes (delirium, seizure, stroke), impaired renal function, and fever. Diagnosis is largely clinical. It is rare for all signs to be present, but the presence of schistocytes (broken RBCs) on peripheral smear with low platelets and rising creatinine is highly suggestive. Nucleated RBCs are also often seen in the peripheral smear. Hemolytic anemia labs include elevated indirect bilirubin, LDH, and AST along with low haptoglobin. Coagulation factors are normal. TABLE 2.7-3. Laboratory Values in DIC Overlapping conditions are HUS, HELLP syndrome, and DIC. HUS: Characterized by renal failure, hemolytic anemia, and low platelets. Severe elevations in creatinine are more typical of HUS than of TTP. HELLP syndrome: Affects pregnant women, often occurring in conjunction with preeclampsia (see the Obstetrics chapter).

InternalMed_Harrison

Thrombotic thrombocytopenic microangiopathies are a group of disorders characterized by thrombocytopenia, a microangiopathic hemolytic anemia evident by fragmented RBCs (Fig. 140-1D) and laboratory evidence of hemolysis, and microvascular thrombosis. They include thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS), as well as syndromes complicating bone marrow transplantation, certain medications and infections, pregnancy, and vasculitis. In DIC, although thrombocytopenia and microangiopathy are seen, a coagulopathy predominates, with consumption of clotting factors and fibrinogen resulting in an elevated prothrombin time (PT) and often activated partial thromboplastin time (aPTT). The PT and aPTT are characteristically normal in TTP or HUS.

Immune Thrombocytopenic Purpura -- Evaluation -- Initial Evaluation

In ITP, the white blood count, hemoglobin concentration, red cell indices, and differential are usually normal, and the only abnormality seen is a platelet count of less than 100,000/microL. [15] If considerable blood loss has occurred, microcytic anemia can be seen on the CBC. If a patient had a recent infection, the white cell count could be high or low depending on the cause of the infection (i.e., bacterial cause showing high WBC vs. viral cause showing low WBC). The reticulocyte count is usually normal unless the patient presents with significant acute blood loss anemia. [15] On the peripheral blood smear, white and red blood cells typically have a normal appearance with a decreased number of platelets, and the platelets will be normal to increased size. [15]

Thrombotic Thrombocytopenic Purpura -- Evaluation

Laboratory evaluation plays a critically important role in diagnosing TTP because signs and symptoms are variable, and end-organ damage can be delayed. For diagnosis, the laboratory data must show anemia and thrombocytopenia along with an indication of active hemolysis, such as the presence of schistocytes, increased unconjugated bilirubin, increased reticulocyte count and increased lactate dehydrogenase. [23] [24] [25] As with any hemolysis in general, the serum haptoglobin decreases as it combines with the free hemoglobin released from the destroyed erythrocytes.

Thrombotic thrombocytopenic purpura

TTP is characterized by thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body, which can lead to microangiopathic hemolytic anemia and thrombocytopenia. This characteristic is shared by two related syndromes, hemolytic-uremic syndrome (HUS) and atypical hemolytic uremic syndrome (aHUS). Consequently, differential diagnosis of these TMA-causing diseases is essential. In addition to TMA, one or more of the following symptoms may be present in each of these diseases: neurological symptoms (e.g. confusion, cerebral convulsions seizures,); kidney impairment (e.g. elevated creatinine, decreased estimated glomerular filtration rate [eGFR], abnormal urinalysis); and gastrointestinal (GI) symptoms (e.g. diarrhea nausea/vomiting, abdominal pain, gastroenteritis. Unlike HUS and aHUS, TTP is known to be caused by an acquired defect in the ADAMTS13 protein, so a lab test showing ≤5% of normal ADAMTS13 levels is indicative of TTP. ADAMTS13 levels

Acute Anemia -- Histopathology

When examining a peripheral blood smear under a microscope, specific findings can provide valuable information about the underlying condition. The following are some observations related to certain types of anemia: Microangiopathic Hemolysis (TTP, ITP, HUS, DIC): In conditions characterized by microangiopathic hemolysis, such as thrombotic thrombocytopenic purpura (TTP), immune thrombocytopenic purpura (ITP), hemolytic-uremic syndrome (HUS), and disseminated intravascular coagulation (DIC), several abnormal RBC shapes may be observed. These include helmet cells (schistocytes), fragmented RBCs, and other RBC fragments. Spherocytes (small, round RBCs lacking central pallor) can also be seen in some cases.

Hematologic disease

Direct physical damage to RBCs Microangiopathic hemolytic anemia Secondary to artificial heart valve(s) Aplastic anemia Fanconi anemia Diamond–Blackfan anemia (inherited pure red cell aplasia) Acquired pure red cell aplasia Decreased numbers of cells Myelodysplastic syndrome Myelofibrosis Neutropenia (decrease in the number of neutrophils) Agranulocytosis Glanzmann's thrombasthenia Thrombocytopenia (decrease in the number of platelets) Idiopathic thrombocytopenic purpura (ITP) Thrombotic thrombocytopenic purpura (TTP) Heparin-induced thrombocytopenia (HIT) Myeloproliferative disorders (Increased numbers of cells) Polycythemia vera (increase in the number of cells in general) Erythrocytosis (increase in the number of red blood cells) Leukocytosis (increase in the number of white blood cells) Thrombocytosis (increase in the number of platelets) Myeloproliferative disorder Transient myeloproliferative disease Coagulopathies (disorders of bleeding and coagulation)

InternalMed_Harrison

Shiga toxin produced by S. dysenteriae type 1 has been linked countries, where enterohemorrhagic E. coli (EHEC) predominates as the etiologic agent of this syndrome. HUS is an early complication that most often develops after several days of diarrhea. Clinical examination shows pallor, asthenia, and irritability and, in some cases, bleeding of the nose and gums, oliguria, and increasing edema. HUS is a nonimmune (Coombs test–negative) hemolytic anemia defined by a diagnostic triad: microangiopathic hemolytic anemia (hemoglobin level typically <80 g/L [<8 g/dL]), thrombocytopenia (mild to moderate in severity; typically <60,000 platelets/μL), and acute renal failure due to thrombosis of the glomerular capillaries (with markedly elevated creatinine levels). Anemia is severe, with fragmented red blood cells (schizocytes) in the peripheral smear, high serum concentrations of lactate dehydrogenase and free circulating hemoglobin, and elevated reticulocyte counts. Acute renal failure occurs


If he has a pediatric murmur, I'm thinking congenital. Hepatomegaly, malleolar edema and BRD, something that overloads the right heart. So we rule out aortic and mitral stenosis. A patent ductus would give cyanosis: ruled out. VSD or ASD? If I am told that he has AF, it is because the atria are of size XL, and a VSD does not produce atrial dilatation.

If he has a pediatric murmur, I'm thinking congenital. Hepatomegaly, malleolar edema and BRD, something that overloads the right heart. So we rule out aortic and mitral stenosis. A patent ductus would give cyanosis: [HIDDEN]. VSD or ASD? If I am told that he has AF, it is because the atria are of size XL, and a VSD does not produce atrial dilatation.

A 45-year-old woman with a history of heart murmur detected in childhood. She is admitted to the emergency department for palpitations, easy fatigue and malleolar edema. Physical examination revealed absence of cyanosis. Oxygen saturation by pulse oximeter 97% BP 120/80 mmHg. Irregular heart rhythm at 100 bpm. Ejective systolic murmur (2/6) in pulmonary focus. 2nd unfolded noise, wide and fixed. No rales. Slight hepatomeglaia (2-3 cm). Slight malleolar edema. ECG: complete arrhythmia due to atrial fibrillation at 100 bpm. QRS +120º. Conduction disorder of the right bundle branch of the His bundle. What is its diagnostic orientation?

Natural history of atrial septal defect in the sixth decade : study of 5 cases.

Atrial septal defect (ASD) is one of the most common causes of congenital heart disease manifested in adulthood. To describe clinical and likelihood picture of adults over 60 years born with an ASD type II. We performed a retrospective study of adult'sASD referred toourinstitutionfrom 1985 through 2010. Clinical, electrocardiographic, echocardiographic and hemodynamic data were reviewed. On follow up study, patients were investigated by echocardiography, ECG and assessed for quality of life by a questionnaire Among forty ASD type II manifested in adulthood which were referred to our department of cardiology five cases of ASD manifested in the sixth decades (2 men and 3 women). Complaints were dyspnea and palpitations in 4 cases and chest pain in only one patient. Slight anterior chest deformity was present in the older patient. Systolic murmur was found in the 3rd left intercostals space and the pulmonary second heart sound was accentuated in all patients. Complete right bundle branch block and right ventricular hypertrophy were found in all cases. Three patients presented atrial fibrillation. There was marked cardiomegaly in four patients. The pulmonary arteries were markedly enlarged and the peripheral vascular markings were increased. Echocardiographic data revealed large secundum ASD (mean 20 mm, ranged between 10 and 30mm), severe systolic pulmonary pressure in two cases (>5O mmhg). MeanQP/QS was 2.2 and contrast revealed bidirectional shunt in one patient. All patients were studied by venous cardiac catheterization. They showed a significant increase in the oxygen content of right atrial blood. Three patients underwent surgical atrial septal defect closure under general anesthesia. There were no operative or peri operative deaths. At mean follow up of 50±75 months, there was one late death from heart failure in a patient with advanced preoperative heart failure. The oldest patient is in the medical group and he is 75years old. Most survival patients remain in good clinical condition. Some of them were symptomatic at the last follow up and complained of shortness of breath on effort and palpitations in two cases. Two patients were in chronic atrial fibrillation developed during follow up. However, chest RX showed reduction in cardiothoracic ratio postoperatively. Echocardiographic examination confirmed that there was no residual shunt in across the atrial septum in any patient. Systolic pulmonary pressure felled only in 2 patients in the surgery group. To our knowledge, thesepatients havealongue life span, although survivors with ASD described in the world. There is a lack of evidence regarding treatment options for adults with an ASD aged more than 60years. Given the higher risks of surgery in advanced age, the defect should be repaired as early as possible to prevent hemodynamic complications.

[Right ventricular dysplasia: clinical characteristics of five patients].

The purpose of this study was to elucidate the clinical features of right ventricular (RV) dysplasia, a recently described clinical entity characterized by RV myopathic changes and ventricular tachycardia of left bundle branch block morphology. Five cases were reported, in which the diagnosis was established according to the criteria of Marcus. Case 1, a 33-year-old man, was referred to us for evaluation of his paroxysmal ventricular tachycardia of five years duration. Case 2, a 38-year-old man, was admitted because of shock caused by ventricular tachycardia. In both cases, the QRS configurations during ventricular tachycardia were those of the left bundle branch block pattern, and electrocardiograms during sinus rhythm showed T wave inversions in the right precordial leads and late ventricular potentials. Two-dimensional echocardiography, radionuclide angiography and contrast angiography disclosed RV dilatation and dysfunction with normal left ventricular (LV) function. The biopsied myocardium from the right and left ventricles in Case 2 revealed myocytolysis, a paucity of myofibrils and proliferation of collagen fibers. Case 3, a 73-year-old woman began to experience exertional dyspnea since 16 years of age. Her treatment consisted of bed rest, diuretics and digitalis. In December 1983, her New York Heart Association functional class was III, and physical examinations disclosed a Levine III/VI systolic murmur suggestive of tricuspid regurgitation, jugular vein dilatation, hepatomegaly, and pretibial edema. Electrocardiogram showed atrial fibrillation, incomplete right bundle branch block and T wave inversions in the precordial leads. Chest radiograph revealed marked cardiomegaly (cardiothoracic ratio of 92%). Echocardiography, radionuclide angiography and contrast angiography revealed marked RV dilatation, depressed ejection fraction (RV end-diastolic volume index of 342 ml/m2, and RV ejection fraction of 28%). Case 4, a 20-year-old man, was admitted with a chief complaint of palpitation. Case 5, a 19-year-old man, was referred to us for the evaluation of asymptomatic cardiomegaly, and his cardiothoracic ratio was 54%. A 12-lead electrocardiogram showed right bundle branch block and T wave inversions in the right precordial leads. Ambulatory electrocardiography revealed frequent premature ventricular complexes of the left bundle branch block pattern. Echocardiography, radionuclide angiography, and contrast angiography disclosed RV dilatation and dysfunction in both cases, and mild LV dilatation and dysfunction (LV end-diastolic volume index of 149 ml/m2, LV ejection fraction of 48%) in Case 4.(ABSTRACT TRUNCATED AT 400 WORDS)

Pentology of Fallot's presenting with complete heart block.

A 17-year-old male patient presented with cyanosis, repeated squatting since childhood and haemoptysis since the past 1 month. He had central cyanosis with clubbing. Cardiovasular examination revealed ejection systolic murmur in the pulmonary area with single S2. ECG showed right ventricular hypertrophy (RVH) with right atrial enlargement and first-degree heart block. Two-dimensional echo showed ventricular septal defect, overriding aorta, RVH, right ventricular enlargement (RVE) and right atrial enlargement with infundibular and valvular pulmonary stenosis and 1.9 cm ostium secondum atrial septal defect. There was no evidence of atrioventricular canal defect. The patient was diagnosed with pentology of Fallots. Follow-up ECG showed complete heart block (CHB) that again reverted to first-degree heart block. A diagnosis of pentology of Fallot with intermittent CHB was made with an awake heart rate of 50/min. This case report shows association of CHB with tetralogy of Fallot.

[Combined heart defects: tetralogy of Fallot, common atrium and a single atrioventricular valve diagnosed by echocardiography].

We present a case of the rare coincidence of three mechanisms leading to development of congenital heart disease in intrauterine life: intrinsic defect of the development of the cardiac loop (dextrocardia), failure of normal expansion of the subpulmonary infundibulum (Fallot syndrome) and endocardial cushion defect (common atrium and common atrioventricular valve ). It was associated with partial viscera inversion. A 31-year old man with congenital cyanotic heart disease, and Blalock-Taussig anastomosis was admitted to the hospital due to symptoms of severe cardiac failure. On physical examination: systolic murmur, hepatomegaly, ascites, leg's edema and cyanosis were found. In ECG--atrial fibrillation with 3-d degree a-v block. Standard echocardiography revealed: dextrocardia, a large single atrium with ostia of pulmonary and systemic veins, single atrio-ventricular valve , large ventricular, Fallot-like septal defect. The papillary muscles were not visible in the left ventricle. Aorta and pulmonary trunk arose from morphological right ventricle. The patient died on the 3-rd day of hospitalization in the course of cardiac and respiratory insufficiency. Postmorten examination confirmed the diagnosis.

Unoperated tetralogy of Fallot in a 68-year-old patient.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease, generally treated with total correction within the first two years of life. Occasionally, some unoperated cases can reach older ages. A 68-year-old woman with diabetes mellitus presented with swelling in legs and abdomen, weakness, exertional dyspnea, and orthopnea. On physical examination, she had mild cyanosis with clubbing. Her blood pressure was 110/60 mmHg and pulse rate was 79 beat/min. She had a systolic ejection murmur and bilateral rales on basal lung areas. Massive edema was noted in both lower limbs. Electrocardiography showed atrial fibrillation with normal ventricular response. Chest radiography showed an increased cardiothoracic ratio and bilateral minimal pleural effusion. Echocardiography showed biatrial dilatation (right atrium 62 mm, left atrium 49 mm) and thickening of left ventricular walls. There was right ventricular hypertrophy with decreased systolic function. A very large ventricular septal defect and severe pulmonary stenosis were noted. The patient did not accept any interventional procedure. To our knowledge, this is the oldest unoperated TOF case reported from our country.

Cor triatriatum sinistrum: a rare congenital cardiac anomaly presenting in an adult with chronic atrial fibrillation.

Cor triatriatum is a rare congenital cardiac anomaly in which the left atrium is divided into proximal (dorsal or upper) and distal (ventral or lower) chambers by a fibromuscular septum. The upper chamber receives the pulmonary veins and the lower chamber contains the atrial appendage and the mitral valve. The 2 chambers communicate through a defect in the membrane. Cor triatriatum is often associated with other congenital cardiac anomalies. Most frequently, the upper chamber communicates with the right atrium through a patent foramen ovale or atrial septal defect, and the clinical symptoms simulate anomalous pulmonary venous return. Less commonly, the foramen ovale communicates with the distal chamber and the clinical features mimic mitral stenosis. When cor triatriatum is the only abnormality, the clinical findings are also similar to mitral stenosis with development of pulmonary hypertension and subsequent right ventricular hypertrophy and atrial enlargement. The diagnosis is usually made in infancy or childhood, and the lack of treatment results in death in 75% of patients. We report the case of a woman who presented much later in life. The patient was a 57-year-old female with a clinical history of chronic atrial fibrillation who presented to the emergency department because of a "funny sensation" in her chest, though she denied chest pain, nausea, vomiting, or diaphoresis. EKG revealed atrial fibrillation with a rapid ventricular response and a tachycardic rate of 157. She had a therapeutic level of digoxin, and cardiac enzymes were normal. The patient was admitted and placed on Cardizem drip. Serial EKGs remained normal and heart rate control was achieved. On hospital day 2, the patient became dyspneic and cyanotic. She went into cardiac arrest and died.Autopsy revealed cardiomegaly (610 g) with 4-chamber dilatation. A septum divided the left atrium into 2 chambers. The defect in the dividing membrane measured 1 cm in diameter. No other congenital defects were noted. The large size of the defect in the membrane likely accounted for the late onset of symptoms that allowed this patient to survive into adulthood without previous diagnosis or surgical intervention (which is usually required in childhood).

Palpitation -- History and Physical

Positive orthostatic vital signs may indicate dehydration or an electrolyte abnormality. A midsystolic click and murmur may indicate mitral valve prolapse.  A harsh holosystolic murmur best heard at the left sternal border which increases with Valsalva may indicate hypertrophic obstructive cardiomyopathy. Fixed splitting of the S2 throughout the cardiac cycle and a right ventricular heave are characteristic clinical features of the atrial septal defect. An irregular rhythm indicates atrial fibrillation or atrial flutter. Evidence of cardiomegaly and peripheral edema may indicate heart failure and ischemia or a valvular abnormality. [1] [2] [6]

Heart sounds

Splitting of S2, also known as physiological split, normally occurs during inhalation because the decrease in intrathoracic pressure increases the time needed for pulmonary pressure to exceed that of the right ventricular pressure. A widely split S2 can be associated with several different cardiovascular conditions, and the split is sometimes wide and variable whereas, sometimes wide and fixed. The wide and variable split occurs in Right bundle branch block, pulmonary stenosis, pulmonary hypertension and ventricular septal defects. The wide and fixed splitting of S2 occurs in atrial septal defect. Pulmonary S2 (P2) will be accentuated (loud P2) in pulmonary hypertension and pulmonary embolism. S2 becomes softer in aortic stenosis. Extra heart sounds The rarer extra heart sounds form gallop rhythms and are heard in both normal and abnormal situations.

Valvular heart disease

Medical signs of aortic regurgitation include increased pulse pressure by increased systolic and decreased diastolic blood pressure, but these findings may not be significant if acute. The patient may have a diastolic decrescendo murmur best heard at left sternal border, water hammer pulse, Austin Flint murmur, and a displaced apex beat down and to the left. A third heart sound may be present Mitral stenosis Patients with mitral stenosis may present with heart failure symptoms, such as dyspnea on exertion, orthopnea and paroxysmal nocturnal dyspnea, palpitations, chest pain, hemoptysis, thromboembolism, or ascites and edema (if right-sided heart failure develops). Symptoms of mitral stenosis increase with exercise and pregnancy

Paroxysmal Atrial Fibrillation -- History and Physical

All patients presenting with the above symptoms should have a detailed history, including past medical/cardiac history. On physical examination, patients should be examined for an irregularly irregular pulse, signs of heart failure like jugular vein distension (JVD), pedal edema, and lung crackles. In valvular AF, mitral stenosis/regurgitation murmur can be heard. A history of prior investigation of underlying causes, anticoagulation choices, and previously attempted methods for rate/rhythm control is important.

List of ICD-9 codes 390–459: diseases of the circulatory system

Secondary cardiomyopathy unspecified Conduction disorders Atrioventricular block, third degree Atrioventricular block, first degree Atrioventricular block, Mobitz II Atrioventricular block, Wenckebach's Bundle branch block, left Bundle branch block, right Sinoatrial heart block Atrioventricular excitation, anomalous Wolff-Parkinson-White syndrome Cardiac dysrhythmias Tachycardia, paroxysmal supraventricular Atrial fibrillation and flutter Atrial fibrillation Atrial flutter Ventricular fibrillation and flutter Ventricular fibrillation Cardiac arrest Premature beats, unspec. Other specified cardiac dysrhythmias Sick sinus syndrome Sinus bradycardia, NOS Cardiac dysrhythmia unspecified Gallop rhythm Heart failure Congestive heart failure unspecified Left heart failure Pulmonary edema, acute Systolic heart failure Diastolic heart failure Heart failure, combined, unspec.

[Mitral valve prolapse as an initial clinical feature of dilated cardiomyopathy: report of two cases].

Two cases with mitral valve prolapse (MVP), without any other cardiac abnormalities at the initial evaluation, developed the clinical features mimic to dilated cardiomyopathy (DCM) during follow-up period. Case 1. A 40-year-old man visited our hospital in May 1982 to evaluate a heart murmur. A standard 12-lead electrocardiogram (ECG) showed an abnormal Q wave in lead III. Echocardiography revealed MVP, but neither dilatation nor wall motion abnormality of the left ventricle (LV) were observed. Thallium-201 scintigraphy revealed an abnormal thallium uptake at the apex and inferior wall. He had no episode of acute myocardial infarction or myocarditis, but complete right bundle branch block developed, thus, he was hospitalized in October 1984. He had no coronary artery lesions, and had only mild mitral regurgitation on left ventriculography. The motion of the interventricular septum and apex was reduced on echocardiogram and a persistent perfusion defect was observed at the inferior wall and the interventricular septum on Tl-201 scintigrams. In December 1985, he experienced an Adams-Stokes attack due to complete atrioventricular block. Echocardiographically, the left ventricle enlarged, and the wall motion abnormalities and a perfusion defect on Tl-201 scintigrams were relatively severe. Case 2. A 46-year-old woman occasionally experienced palpitation of short duration and chest oppression since 1977. She was admitted to our hospital because of cardiac symptoms in 1982. A heart murmur of Levine II was heard and a standard 12-lead ECG showed single supraventricular extrasystole and T wave inversion in lead III and aVF. Echocardiography revealed MVP and mild mitral regurgitation, but neither dilatation nor wall motion abnormality of the LV was observed. During 6-year follow-up period, permanent atrial fibrillation developed and LV developed dilatation and wall motion abnormalities progressed. Thus, during follow-up periods, DCM-like features developed in two cases who had had MVP as a sole echocardiographic abnormality with systolic murmur and non-specific ECG changes. We consider that these two may be important cases who may show a relation between cardiomyopathic process and MVP.

Mitral stenosis

Almost all signs increase with exercise and pregnancy. Other peripheral signs include: Malar flush - due to back pressure and buildup of carbon dioxide (CO2). CO2 is a natural vasodilator. Atrial fibrillation - irregular pulse and loss of 'a' wave in jugular venous pressure Left parasternal heave - presence of right ventricular hypertrophy due to pulmonary hypertension Tapping apex beat that is not displaced Medical signs of atrial fibrillation include: Heart rate is about 100-150/min. Irregularly irregular pulse with a pulse deficit>10. Varying first heart sound intensity. Opening snap is not heard sometimes. Absent a waves in the neck veins. Presystolic accentuation of diastolic murmur disappears. Embolic manifestations may appear.

Pulse

Rhythm A normal pulse is regular in rhythm and force. An irregular pulse may be due to sinus arrhythmia, ectopic beats, atrial fibrillation, paroxysmal atrial tachycardia, atrial flutter, partial heart block etc. Intermittent dropping out of beats at pulse is called "intermittent pulse". Examples of regular intermittent (regularly irregular) pulse include pulsus bigeminus, second-degree atrioventricular block. An example of irregular intermittent (irregularly irregular) pulse is atrial fibrillation. Volume The degree of expansion displayed by artery during diastolic and systolic state is called volume. It is also known as amplitude, expansion or size of pulse. Hypokinetic pulse A weak pulse signifies narrow pulse pressure. It may be due to low cardiac output (as seen in shock, congestive cardiac failure), hypovolemia, valvular heart disease (such as aortic outflow tract obstruction, mitral stenosis, aortic arch syndrome) etc.

Cardiac Sarcoidosis -- History and Physical -- Physical examination

General physical examination may reveal tachycardia, bradycardia, irregular pulse (atrial fibrillation or variable block), pedal edema, or raised jugular venous pulse. In addition, a third or fourth heart sound can indicate left ventricular dysfunction; systolic or diastolic murmurs at the apex can be found in mitral valve involvement; and a loud second heart sound can occur in pulmonary hypertension. [20]

Ventricular Septal Defect -- History and Physical

The presentation of unrepaired VSDs is largely dependent on the presence of hemodynamically significant shunt; hence it is directly related to the size of the defect. Small VSDs only lead to the minimal left-to-right shunt without left ventricular (LV) fluid overload or PAH; they are usually asymptomatic or found incidentally on physical exam. Medium size VSDs result in a moderate LV volume overload and absent to mild PAH; they present late in childhood with mild congestive heart failure (CHF). Those with large defects develop CHF early in childhood due to the severe LV overload and severe PAH. The murmur of VSD is typically pan-systolic best heard in the left lower sternal border; it is harsh and loud in small defects but softer and less intense in large ones. Handgrips increase afterload, increasing the strength of the murmur. Infundibular defects are best heard in the pulmonic area. A diastolic decrescendo murmur and wide pulse pressure can be detected in the setting of aortic regurgitation. Increased LV flow may result in the mid-diastolic rumble in the lower left sternal border. A systolic click of a septal aneurysm can be appreciated sometimes in membranous defects. Eisenmenger syndrome manifests in cyanosis, desaturation, dyspnea, syncope, secondary erythrocytosis, and clubbing; in such cases, the typical murmur of VSD can be absent and accentuated pulmonic component of the second heart sound may be heard.

Heart murmur

Harsh holosystolic (pansystolic) murmur at the left lower sternal border Classic for a ventricular septal defect. It is in these children that the delayed-onset cyanotic heart disease occurs known as Eisenmenger syndrome, which is a reversal of the left-to-right heart shunt as the right ventricle hypertrophies, causing a right-to-left shunt and resulting cyanosis. Widely split fixed S2 and systolic ejection murmur at the left upper sternal border Classically due to a patent foramen ovale or atrial septal defect, which is lack of closure of the foramen ovale. This produces a left-to-right shunt initially, thus does not produce cyanosis, but causes pulmonary hypertension. Longstanding uncorrected atrial septal defects can also result in Eisenmenger's syndrome with resultant cyanosis.

[Possible mechanisms of false positive results of averaged ECG].

The objective of this retrospective study was to investigate the causes of high amplification (HA) ECG abnormalities detected in apparently healthy subjects. This study was based on 14 patients derived from a population of 167 admitted for assessment of malaise or supraventricular tachycardia and who had no apparent heart disease. The surface ECG showed fine QRS complexes (< 120 ms) with no left hemiblock on ECG. All of these subjects underwent a complete electrophysiological study and high amplification ECG using a 40 Hertz high-pass filter. For these 14 patients, the amplitude of the last 40 milliseconds (ms) of the mean QRS (RMS 40) was less than or equal to 20 microvolts (microV). Eight of them also had a duration of the terminal part of the QRS complex less than 40 microV (LAS) greater than 40 ms and 6 others had and LAS greater than 35 ms. The mean QRS interval was normal in all patients (< 120 ms). The usual causes for reduction of the RMS 40-were eliminated: programmed ventricular pacing using 3 extrastimuli under basal conditions and with isuprel remained negative. E chocardiography and the right ventricular angiography were normal. The surface ECG showed slight abnormalities: absence of Q wave in V6 without delay of the intrinsic-like deflection in 3 subjects, increased R wave in V1 in 2 subjects and especially deep S wave in V5-V6 with no left axis deviation in 10 patients. Programmed or increasing frequency atrial pacing induced RBB or LBB in 13 of these 14 subjects (RBB: 7, LBB : 3, RBB and LBB:3). Follow-up, ranging from 6 months to 3 years, did not reveal any cardiac events, but signs of RBB appeared in 3 patients and signs of LBB were observed in 1 patient. an abnormal high amplification ECG in apparently healthy subjects could be explained by minor conduction disorders essentially in the right branch. The presence of a deep S wave (> 2 mm) in V5-V6 is the commonest ECG sign in these subjects. This diagnosis can only be proposed after exclusion of right ventricular dysplasia in symptomatic patients.

[A case of sick sinus syndrome, considered to develop to atrial standstill].

A 25 year old man was admitted to our hospital because of dizziness and bradycardia. Physical examination was normal except for an irregular pulse of 90 beats/min. Chest X-ray film showed no cardiomegaly and no pulmonary congestive changes. ECG showed 2:1 or 3:1 atrial flutter on admission. After atrial flutter was terminated spontaneously, ECG revealed absent P waves, a QRS interval of 0.10 seconds, and A-V junctional rhythm with irregular R-R interval ranging from 1.20 to 2.12 seconds. At times, cardiac arrest was noted. Esophageal electrocardiogram also failed to demonstrate atrial activity while A-V junctional rhythm continued. Mitral valve echocardiogram lacked A point, and then ä waves were absent in both the right atrial and pulmonary capillary pressure recordings. Transient atrial standstill was suspected from these findings, so that electrophysiological study was performed. Right atrial electrogram revealed complete absence of atrial activity. His bundle electrogram revealed H-V prolongation [80-83 msec]. Right atrial pacing was attempted at several atrial sites, including the high lateral, middle lateral, low lateral right atrium, and low right atrial septum. Atrial activity could be elicited with stimulus strength of 3 to 5 volts. These atrial pacing thresholds were mild or moderately higher than usual. After the cessation of atrial pacing at 90 beats for two minutes, the recovery time of the first beat prolonged to 8.46 second. We considered that this case was sick sinus syndrome in young adult which revealed generalized disturbance of conduction system including the atrial muscle, and would develop to atrial standstill in the near future.

Tricuspid atresia

A combined atrial septal defect (ASD) and a ventricular septal defect (VSD) can be present to maintain blood flow-from the right atrium, the blood must flow through the ASD to the left atrium to the left ventricle and through the VSD to the right ventricle to allow access to the lungs. Alternatively, an atrial septal defect (ASD) with a patent ductus arteriosus may also be present, thus causing blood flow from the right atrium to the left atrium to the left ventricle to the aorta and then to the pulmonary artery. In these cases, prostaglandin E1 is used to maintain patency of the ductus arteriosus until emergency corrective surgery can be completed. Presentation progressive cyanosis poor feeding tachypnea over the first 2 weeks of life holosystolic murmur due to the VSD left axis deviation on electrocardiography and left ventricular hypertrophy (since it must pump blood to both the pulmonary and systemic systems) Normal or mildly enlarged heart

[Bifascicular block: long-term follow-up. Report of 40 cases].

A total of 14,500 E.C.G. tracings were reviewed to determine the incidence of bifascicular block and those patients were followed up to assess prognosis. Forty patients with bifascicular block (complete right bundle branch block associated with left anterior hemiblock), diagnosed with standard E.C.G., according to Medrano's criteria from January 1978 to September 1980 were studied in our Service. The incidence of this intraventricular conduction defect was 0.0033 (3.3 per thousand). Males predominated over females at a rate of 2.4 to 1. This block was more frequent from the sixth to the ninth decades of life. Thirty five percent of the patients had no evidence of cardiovascular pathology; 32.5 percent had high blood pressure, 2.5 percent had coronary heart disease, 2.5 percent rheumatic heart disease, 5 percent chronic pulmonale, and 37.5 percent had diabetes mellitus as an associated finding. During the follow up which covered 20.2 months/patient, only one patient developed junctional rhythm and periods of asystolia and syncope; this case was treated with a permanent pacemaker with good results. Two patients died, one from digitalis intoxication and the other at home, the cause was not determined. It is necessary to study this conduction defect with longer follow up periods and according to the underlying heart disease, in order to assess properly the prognosis and behavior of this conduction defect.

List of circulatory system conditions

Congenital heart diseaseSee also :Category:Congenital heart defects Aortic coarctation (Aortic coarctation) Acyanotic heart defect Atrial septal defect Cor triatriatum Dextro-Transposition of the great arteries Double aortic arch Double inlet left ventricle Double outlet right ventricle Ebstein's anomaly GUCH Cyanotic heart defect Tetralogy of Fallot (ToF) Total anomalous pulmonary venous connection Hypoplastic left heart syndrome (HLHS) Transposition of the great arteries (d-TGA) Truncus arteriosus (Persistent) Tricuspid atresia Interrupted aortic arch Coarctation of aorta Pulmonary atresia (PA) Pulmonary stenosis (critical) Non-cyanotic heart defects Atrial septal defect Ventricular septal defect Patent ductus arteriosus and Coarctation of aorta (may cause cyanosis in some cases) Ischemic heart diseasesSee also :Category:Ischemic heart diseases Angina pectoris Acute coronary syndrome Acute myocardial infarction

List of circulatory system conditions

Cardiovascular Angina Acute coronary syndrome Anomic aphasia Aortic dissection Aortic regurgitation Aortic stenosis Apoplexy Apraxia Arrhythmias Asymmetric septal hypertrophy (ASH) Atherosclerosis Atrial flutter Atrial septal defect Atrioventricular canal defect Atrioventricular septal defect Avascular necrosis'Cardiac electrophysiologySee also :Category:Cardiac electrophysiology AV nodal reentrant tachycardia (Atrioventricular nodal reentrant tachycardia) Accelerated idioventricular rhythm Andersen–Tawil syndrome (Andersen cardiodysrhythmic periodic paralysis, Andersen syndrome, Long QT syndrome 7; Periodic paralysis, potassium-sensitive cardiodysrhythmic type) Ashman phenomenon (Ashman beats) Atrial fibrillation Atrial fibrillation with rapid ventricular response Atrial flutter Atrial tachycardia Bifascicular block Brugada syndrome (Sudden Unexpected Death Syndrome) Bundle branch block Cardiac dysrhythmia (Cardiac arrhythmia)

Case 288.

History A 46-year-old woman was admitted to our hospital with decompensated congestive heart failure and pericardial effusion diagnosed on echocardiography. She had no family history of sudden cardiac death. She was born at term and experienced no cardiac events until 4 years of age, at which point she was hospitalized because of three syncopal episodes that were not related to exercise. Over the next 10 years, she experienced two additional episodes of syncope not related to exercise. She had another hospital admission at 12 years of age. Clinical examination did not reveal cyanosis or clubbing, peripheral pulses were normal, and blood pressure was 90/60 mmHg. Her venous pressure was elevated, but the liver was not enlarged, and the lung fields were clear. Electrocardiography showed sinus rhythm, right bundle branch block, T-wave inversion in V6, and evidence of right atrial dilatation. Two-dimensional echocardiography showed normal intracardiac connections, with the tricuspid valve in the normal position and normal size of the left atrium and left ventricle with a normal ejection fraction. The right ventricle was dilated without evidence of right ventricular outflow tract obstruction. Implantation of an implantable cardioverter-defibrillator was considered but was ultimately contraindicated because of right ventricle anatomy. Thus, the patient received conservative care and was started on digoxin and diuretics. At 32 years of age, she experienced an episode of atrial flutter that was treated with electrical cardioversion. As stated earlier, at 46 years of age, she was admitted to our hospital with decompensated heart failure to be evaluated for a heart transplant. She underwent electrocardiography, echocardiography, cardiac MRI with and without administration of contrast media, and non-cardiac-gated multidetector CT with and without contrast media to rule out pulmonary embolism. The following quantitative results were obtained with MRI: Left ventricular end-diastolic volume (LVDV) was 40 mL (LVDV per body surface area [BSA], 25 mL/m<sup2</sup); left ventricular end-systolic volume (LVSV), 21 mL (LVSV/BSA, 13 mL/m<sup2</sup); stroke volume (SV), 19 mL (SV/BSA, 12 mL/m<sup2</sup); and ejection fraction, 47%. Right ventricular end-diastolic volume (RVDV) was 262 mL (RVDV/BSA, 164 mL/m<sup2</sup); right ventricular end-systolic volume (RVSV), 198 mL (RVSV/BSA, 124 mL/m<sup2</sup); stroke volume (SV), 64 mL (SV/BSA, 40 mL/m<sup2</sup); and ejection fraction, 24%. Phase contrast sequences in the aorta and pulmonary artery showed systemic output of 20 mL and pulmonary output of 18 mL. Tricuspid regurgitation was massive (46 mL) (Figs 1-4).

[Complete D-transposition of the great vessels diagnosed late in a 10-month infant. Rashkind manoeuvre].

We report a first documented case in Senegal with simple transposition of the great arteries diagnosed in a 2 months old girl treated by Rashkind atrioseptostomy. Our patient benefited from clinical examination, ECG (15 derivations), chest X ray and standard laboratory tests. Pulsed-Doppler, two dimensional and TM echocardiography have been performed with an ATL MK 600 echocardiograph. Cardiac catheterism, angiocardiography and Rashkind procedure have been realized in our Department. These data are discussed and compared to the literature. At admission this patient presents with major cyanosis and polypnea. At examination, there is a 3/6 murmur at the left sternal border and a subclavicular continuous murmur. Laboratory tests showed metabolic acidosis and severe hypoxemia. Chest x-ray showed a cardio-thoracic ratio at 0.64 with increased pulmonary vascular markings. ECG showed right ventricular hypertrophy. Echocardiography-Doppler revealed ventriculo-arterial discordance with restrictive atrial septal defect and persistent ductus arteriosus. Rashkind procedure was followed by an increased aortic saturation. After 6 weeks there was an improvement of cyanosis and cardiac failure. Diagnosis of transposition of the great arteries is actually easier with development of ultrasonography which is useful when performed by experienced cardiologist. Spontaneous prognosis of this malformation is very poor. Rashkind atrioseptostomy is an important step for the initial treatment of transposition of the great arteries in terms of survival before open heart surgery.

First-Degree Heart Block -- History and Physical

First-degree AV block is almost universally without associated symptoms. Patients will frequently be unaware of the condition until it appears on routine electrocardiography. Upon recognition of the PR interval prolongation, a thorough history should be obtained, with a specific focus on any history of congenital or acquired heart disease, risk factors for heart disease, family history of cardiac disease, the presence of neuromuscular disease, or family history of neuromuscular disease. In higher-grade first-degree block (PR interval greater than 0.30 seconds), patients may develop symptoms similar to pacemaker syndrome: dyspnea, malaise, lightheadedness, chest pain, or even syncope due to poor synchronization of atrial and ventricular contractions. [8] With the delay in ventricular contraction, patients will experience discomfort as the atria contracts against closed atrioventricular valves. Similarly, the physical exam will typically be normal, and there are no common physical exam findings suggestive of first-degree AV block. It is sensible to conduct a general assessment for signs of cardiac diseases, such as auscultation for murmurs or additional heart sounds, palpation for JVD and peripheral edema, and a skin evaluation for cyanosis, clubbing, or other signs of chronic cardiac disease.

Alagille syndrome

Heart Common signs of Alagille syndrome include congenital heart problems varying from heart murmurs to significant structural abnormalities, such as Tetralogy of Fallot. Pulmonary Stenosis, overriding aorta, ventricular septal defect, and right ventricular hypertrophy are common amongst Alagille patients. Patients may also present with Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, and Coarctation of the aorta. The mortality rate of Tetralogy of Fallot when untreated ranges from 70% by age 10 to 95% by age 40. However, complete surgical repair can significantly improve both longevity and quality of life in patients with Alagille syndrome.

Continuous murmurs

Heart murmurs are most frequently organized by timing, into systolic heart murmurs and diastolic heart murmurs. However, continuous murmurs can not be directly placed into either category. These murmurs are due to blood flow from a high pressure chamber or vessel to a lower pressure system. Patent ductus arteriosus . Patent ductus arteriosus (PDA) is an abnormal connection between the aorta and the pulmonary artery, which normally should be closed in infancy. Since aortic pressure is higher than pulmonary pressure, a continuous murmur occurs. This murmur is often described as a machinery murmur, or Gibson's murmur. This is named for George Alexander Gibson, who characterised it in 1898. Aortopulmonary window. Shunts. Usually a left to right shunt through a small atrial septal defect in the presence of mitral valve obstruction. References Heart murmurs Turbulence

Case 288: Uhl Anomaly.

History A 46-year-old woman was admitted to our hospital with decompensated congestive heart failure and pericardial effusion diagnosed at echocardiography. She had no family history of sudden cardiac death. She was born at term and experienced no cardiac events until 4 years of age, at which point she was hospitalized because of three syncopal episodes that were not related to exercise. Over the next 10 years, she experienced two additional episodes of syncope not related to exercise. She had another hospital admission at 12 years of age. Clinical examination did not reveal cyanosis or clubbing, peripheral pulses were normal, and blood pressure was 90/60 mmHg. Her venous pressure was elevated, but the liver was not enlarged, and the lung fields were clear. Electrocardiography showed sinus rhythm, right bundle branch block, T-wave inversion in V6, and evidence of right atrial dilatation. Two-dimensional echocardiography showed normal intracardiac connections, with the tricuspid valve in the normal position and normal size of the left atrium and left ventricle with a normal ejection fraction. The right ventricle (RV) was dilated, without evidence of RV outflow tract obstruction. Implantation of an implantable cardioverter-defibrillator was considered but was ultimately contraindicated because of RV anatomy. Thus, the patient received conservative care and was started on digoxin and diuretics. At 32 years of age, she experienced an episode of atrial flutter that was treated with electrical cardioversion. As stated earlier, at 46 years of age, she was admitted to our hospital with decompensated heart failure to be evaluated for a heart transplant. She underwent electrocardiography, echocardiography, cardiac MRI with and without administration of contrast media, and non-cardiac-gated multidetector CT (MDCT) with and without contrast media to rule out pulmonary embolism. The following quantitative results were obtained with MRI: Left ventricular end-diastolic volume (LVDV) was 40 mL (LVDV per body surface area [BSA], 25 mL/m<sup2</sup); left ventricular end-systolic volume (LVSV), 21 mL (LVSV/BSA, 13 mL/m<sup2</sup); left ventricular stroke volume (SV), 19 mL (SV/BSA, 12 mL/m<sup2</sup); and left ventricular ejection fraction, 47%. RV end-diastolic volume (RVDV) was 262 mL (RVDV/BSA, 164 mL/m<sup2</sup); RV end-systolic volume (RVSV), 198 mL (RVSV/BSA, 124 mL/m<sup2</sup); RV stroke volume (SV), 64 mL (SV/BSA, 40 mL/m<sup2</sup); and RV ejection fraction, 24%. Phase contrast sequences in the aorta and pulmonary artery showed systemic output of 20 mL and pulmonary output of 18 mL. Tricuspid regurgitation was massive (46 mL).

Mitral Stenosis -- History and Physical

Mitral stenosis presents 20 to 40 years after an episode of rheumatic fever. The most common symptoms are orthopnea and paroxysmal nocturnal dyspnea. Patients may have symptoms of palpitations, chest pain, hemoptysis, thromboembolism when the left atrial volume is increased, ascites, edema, and hepatomegaly (if right-side heart failure develops). There is also an increase in symptoms of fatigue and weakness with exercise and pregnancy. On auscultation, the first heart sound is usually loud and maybe palpable due to increased force in closing the mitral valve. The P2 (pulmonic) component of the second heart sound (S2) will be loud if severe pulmonary hypertension is due to mitral stenosis.

Congenital heart defect

Defects Aortic stenosis Arrhythmogenic right ventricular cardiomyopathy Atrial septal defect (ASD) Atrioventricular septal defect (AVSD) Bicuspid aortic valve Cardiomyopathy Complete heart block (CHB) Dextrocardia Double inlet left ventricle (DILV) Double outlet right ventricle (DORV) Ebstein's anomaly Early Repolarization Syndrome Hypoplastic left heart syndrome (HLHS) Hypoplastic right heart syndrome (HRHS) Mitral stenosis Persistent truncus arteriosus Pulmonary atresia Pulmonary stenosis Rhabdomyomas (Tumors of the Heart) Transposition of the great vessels dextro-Transposition of the great arteries (d-TGA) levo-Transposition of the great arteries (l-TGA) Tricuspid atresia Ventricular septal defect (VSD) Wolff-Parkinson-White syndrome (WPW)

[Electrocardiographic diagnosis of left ventricular hypertrophy accompanied by complete right bundle branch block].

The new electrocardiographic criteria for diagnosing left ventricular hypertrophy (LVH) were evaluated in patients with complete right bundle branch block (CRBBB) based on the relationships between left ventricular mass and multiple electrocardiographic variables obtained from 12-lead electrocardiograms. The subjects consisted of 88 patients with CRBBB, whose ages ranged from 18 to 86 years. Patients with histories of myocardial infarction, moderate to severe pericardial effusion and an undetermined axis were excluded from the study. LVH was defined as left ventricular mass (LVmass) > or = 215 g calculated from the Penn method using standard M-mode echo measurements. All electrocardiograms were interpreted by one investigator who had no knowledge of the echocardiographic results. Items calculated were the amplitude of Q, R, and S waves and their A/R, R/S, and S/A ratios, the mean frontal QRS axis, ventricular activation time in lead V5, the Morris' index, ST-T segment depression in leads V5,6, and negative U waves in leads V5,6. We selected 22 items for our criteria according to their sensitivity and specificity, and added to the 11 previously reported ones determined. LV wall thickness correlated best with R I (r = 0.57, p < 0.01), LV diastolic dimension with RV5 (r = 0.48, p < 0.01), and LV mass with R I+S III (r = 0.60, p < 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)