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Familial occurrence of pulmonary atresia with intact ventricular septum

✍ Scribed by Grossfeld, Paul D.; Lucas, Victor W.; Sklansky, Mark S.; Kashani, Iraj A.; Rothman, Abraham

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 20 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971031)72:3<294::aid-ajmg8>3.0.co;2-r

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✦ Synopsis

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.

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