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Medline ® Abstract for Reference 12

of 'Pulmonary atresia with intact ventricular septum (PA/IVS)'

12
TI
Familial occurrence of pulmonary atresia with intact ventricular septum.
AU
Grossfeld PD, Lucas VW, Sklansky MS, Kashani IA, Rothman A
SO
Am J Med Genet. 1997 Oct;72(3):294-6.
 
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.
AD
Division of Pediatric Cardiology, University of California, San Diego Medical Center 92103, USA.
PMID