Hereditary Atrial Septal Defect: Update of a Large Kindred

Henry T. Lynch, Kenneth Bachenberg, Randall E. Harris, William Becker

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


A large pedigree wherein members are predisposed to atrial septal defect (ASD) and associated cardiovascular anomalies has been studied. There were ten direct line relatives with ASD verified by cardiac catheterization and/or surgery and in one case by reliable medical history. The pedigree shows vertical transmission of ASD through four generations. Estimates of the genetic segregation ratio were near 50%, indicating that predisposition to ASD among family members was due to a deleterious autosomal dominant gene. Family members have also manifested other congenital heart anomalies, consistent with pleiotropic effects of the putative gene. Electrocardiograms in six ASD patients revealed an absence of prolonged P-R interval. In the light of prior studies showing prolonged P-R interval in familial ASD, we suggest the existence of at least two distinct hereditary varieties of ASD, one with and one without a prolonged P-R interval.

Original languageEnglish (US)
Pages (from-to)600-604
Number of pages5
JournalAmerican Journal of Diseases of Children
Issue number6
StatePublished - Jun 1978

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


Dive into the research topics of 'Hereditary Atrial Septal Defect: Update of a Large Kindred'. Together they form a unique fingerprint.

Cite this