UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate, Inc. and/or its affiliates. All Rights Reserved.

Medline ® Abstract for Reference 11

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

11
TI
Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?
AU
Chitayat D, McIntosh N, Fouron JC
SO
Am J Med Genet. 1992;42(3):304.
 
We report on 2 sisters with hypoplastic right heart and pulmonary atresia. The first sib was found to have pulmonary atresia, intact ventricular septum, and hypoplastic right heart after delivery. Fetal echocardiography at 22 weeks of gestation during the second pregnancy documented the same cardiac abnormalities. Autopsy findings in the fetus confirmed the echocardiographic findings. No other malformations were detected in either case, and no other affected relatives were identified. We suggest that this rare congenital heart defect may, in some cases, be an autosomal recessive trait.
AD
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
PMID