Familial pulmonary atresia. Its occurrence with a ventricular septal defect.
To our knowledge, this is the first reported case of pulmonary atresia with a ventricular septal defect that occurred in a father and his son. A multifactorial mode of determination that resulted from an interaction between genetic predisposition and environmental factors was assumed, since the family history did not show other members with congenital heart defects. Based on the background and on information from the multifactorial theory of inheritance, a counseling plan was formulated for these parents. A similar approach is recommended for the many surgical survivors of previously uncorrectable complex congenital heart defects as they approach reproductive age.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011664:Pulmonary Valve / Q000002:abnormalities*