Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: A single gene disorder?

Authors

  • Dr. David Chitayat,

    Corresponding author
    1. Department of Pediatrics, Division of Medical Genetics, Montreal, Quebec, Canada
    2. The Montreal Children's Hospital, and The Center for Human Genetics, McGill University, Montreal, Quebec, Canada
    • Division of Medical Genetics, The Montreal Children's Hospital, 2300 Tupper St., Montreal, Quebec, H3H 1P3, Canada
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  • Nathalie McIntosh,

    1. Department of Pediatrics, Division of Medical Genetics, Montreal, Quebec, Canada
    2. The Montreal Children's Hospital, and The Center for Human Genetics, McGill University, Montreal, Quebec, Canada
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  • Jean-Claude Fouron

    1. Department of Pediatrics, Division of Cardiology, Université de Montréal and Hǒpital Ste. Justine, Montreal, Quebec, Canada
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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.

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