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May 1980

Familial Pulmonary Atresia: Its Occurrence With a Ventricular Septal Defect

Author Affiliations

From the Edward C. Lambert Department of Cardiology (Mr DiChiara, Drs Pieroni, Gingell, and Vlad) and the Division of Human Genetics (Dr Bannerman), the Children's Hospital of Buffalo, and the Department of Pediatrics, State University of New York at Buffalo.

Am J Dis Child. 1980;134(5):506-508. doi:10.1001/archpedi.1980.02130170056019

• 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.

(Am J Dis Child 134:506-508, 1980)