Familial total anomalous pulmonary venous return: a large Utah-Idaho family.
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.
Bleyl
S
S
Department of Obstetrics and Gynecology, University of Utah Health Sciences Center, Salt Lake City.
Ruttenberg
H D
HD
Carey
J C
JC
Ward
K
K
D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007061:Idaho / Q000453:epidemiology; D007223:Infant; D008297:Male; D010375:Pedigree; D011667:Pulmonary Veins / Q000002:abnormalities*; D014589:Utah / Q000453:epidemiology