title: Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: a single gene disorder?
abstract: 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.
authors.affiliation: Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: N
authors.initials: N
authors.lastname: McIntosh
authors.forename: J C
authors.initials: JC
authors.lastname: Fouron
mesh_terms: D000328:Adult; D004452:Echocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006346:Heart Septum / Q000033:anatomy & histology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011664:Pulmonary Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal