Isolated Left Ventricular Apical Hypoplasia with Infundibular Pulmonary and Aortic Stenosis: a Rare Combination
A 33-year-old male patient was referred to our hospital for evaluation of a cardiac murmur. The cardiac murmur was found incidentally during a preoperative evaluation for hemorrhoids. He had no history of congenital heart disease, and there was no family history of premature coronary artery disease, cardiomyopathy or sudden cardiac death. A continuous cardiac murmur was heard during the entire heartbeat. A chest radiograph showed no abnormalities. An electrocardiogram (ECG) indicated a normal sinus rhythm, right axis deviation, incomplete right bundle branch block, right atrial enlargement and right ventricular (RV) hypertrophy. Transesophageal and transthoracic echocardiography showed a spherically shaped LV and dilation of all cardiac chambers with good global LV systolic function (). They also revealed heavily calcified aortic valve with moderate to severe stenosis (), mild mitral regurgitation and RV outflow tract acceleration due to infundibular hypertrophy (). Grade II diastolic dysfunction was also noted (E/A ratio, 1.9; isovolumic relaxation, 90 ms; deceleration time, 210 ms).\nCardiac magnetic resonance imaging (MRI) was performed using a 1.5-T scanner with standard ECG-based referencing (Siemens Symphony, Erlangen, Germany), and the findings supported and better defined the echocardiographic results. The MRI sequences were as follows: Anatomical evaluation was performed with transverse dark-blood HASTE (repetition time [TR]/echo time [TE], 700/27; matrix size, 256 × 123; slice thickness, 8 mm) with or without fat saturation. Dynamic evaluation was done with an echo-planar cine true fast imaging with steady-state precession (TR/TE, 66.2/1.3; matrix size, 192 × 113; slice thickness, 5 mm) in two-, three-, four-chamber and short axis views. Phase-sensitive inversion recovery turbo FLASH pulse sequence was also performed for the detection of LV myocardial scar (TR/TE, 826.4/3.3; matrix, 256 × 156; slice thickness, 6 mm) 10 minutes after intravenous injection of gadobutrol (0.2 mmol/kg). The LV exhibited a truncated and spherical configuration with rightward bulging of the interventricular septum and elongation of the RV. The papillary muscles originated from the flattened anterior apex (). Quantitative RV ejection fraction was normal (52%). Transverse HASTE images outlined fat within the myocardium at the LV apex (). There was no delayed enhancement of the myocardium to indicate myocardial fibrosis. Further, there was also infundibular pulmonary stenosis and aortic stenosis () without an atretic mitral valve. These echocardiographic and cardiac MRI anatomic features were consistent with isolated LV apical hypoplasia combined with infundibular pulmonary stenosis and aortic stenosis.