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Familial total anomalous pulmonary venous return: A large Utah-Idaho family
Authors:Steven Bleyl  Herbert D. Ruttenberg  John C. Carey  Kenneth Ward
Affiliation:Departments of Obstetrics and Gynecology, University of Utah Health Sciences Center, Salt Lake City, Utah
Abstract:
Total anomalous pulmonary venous return (TAPVR) is a rare form of cyanotic congenital heart disease which, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history, and is generally thought to have a low recurrence risk. However, 15 instances of familial TAPVR have been reported previously, suggesting a genetic cause in some cases. We report on a large family in which TAPVR appears to be determined multifactorially or as an autosomal dominant trait with variable expressivity and reduced penetrance. © 1994 Wiley-Liss, Inc.
Keywords:anomalous pulmonary veins  congenital heart disease  autosomal dominant transmission  reduced penetrance  genetic counseling
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