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Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies can be defined as structural or functional anomalies (e.g. metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth or later in life.
Congenital heart defect (CHD), also known as a congenital heart anomaly or congenital heart disease, is a problem in the structure of the heart that is present at birth.Signs and symptoms depend on the specific type of problem.ost of the known causes of congenital heart disease are sporadic genetic changes, either focal mutations or deletion or addition of segments of DNA. Large chromosomal abnormalities such as trisomies 21, 13, and 18 cause about 5â8% of cases of CHD, with trisomy 21 being the most common genetic cause.