Familial occurrence of isolated right ventricular hypoplasia

Am J Med Genet. 2000 Feb 28;90(5):356-7. doi: 10.1002/(sici)1096-8628(20000228)90:5<356::aid-ajmg2>3.0.co;2-c.

Abstract

Isolated right ventricular hypoplasia is a rare congenital anomaly. This condition is usually associated with a communication between the atria in the form of a patent foramen ovale or secondum atrial septal defect. We describe a familial occurrence of this rare disease. A 1-day-old male child and his 34-year-old father were found to have isolated right ventricular hypoplasia with atrial septal defect. An autosomal dominant mode of inheritance is likely for this rare congenital anomaly.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Heart Septal Defects, Atrial / genetics*
  • Heart Ventricles / abnormalities*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Pedigree