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Familial occurrence of pulmonary atresia with intact ventricular septum
P D Grossfeld1, V W Lucas, M S Sklansky
1Division of Pediatric Cardiology, University of California, San Diego Medical Center 92103, USA.
American Journal of Medical Genetics
|October 23, 1997
Abstract:
Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance. The study of such families should ultimately lead to the identification of the gene(s) that cause congenital heart disease.