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.
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Bleyl et al. (1994) studied this question.
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