title: Familial occurrence of pulmonary atresia with intact ventricular septum.
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.
authors.affiliation: Division of Pediatric Cardiology, University of California, San Diego Medical Center 92103, USA.
authors.forename: P D
authors.initials: PD
authors.lastname: Grossfeld
authors.forename: V W
authors.initials: VW
authors.lastname: Lucas
authors.forename: M S
authors.initials: MS
authors.lastname: Sklansky
authors.forename: I A
authors.initials: IA
authors.lastname: Kashani
authors.forename: A
authors.initials: A
authors.lastname: Rothman
mesh_terms: D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D006346:Heart Septum; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D018633:Pulmonary Atresia / Q000235:genetics*