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Murine Fetal Echocardiography
08:04

Murine Fetal Echocardiography

Published on: February 15, 2013

Familial muscular ventricular septal defects and aneurysms of the muscular interventricular septum

Mugur I Nicolae1, Kim M Summers, Dorothy J Radford

  • 1Department of Cardiology, The Prince Charles Hospital, Brisbane, Australia.

Cardiology in the Young
|July 20, 2007
PubMed

Insights

Familial clustering of ventricular septal defects (VSDs) suggests autosomal dominant inheritance. This uncommon occurrence in VSDs may indicate a larger genetic component in other families with congenital heart defects.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatric Medicine

Background:

  • Ventricular septal defects (VSDs) are common congenital heart defects.
  • Familial clustering of VSDs is considered uncommon.
  • Genetic factors are implicated in congenital heart disease.

Observation:

  • A family presented with multiple affected members across generations with muscular VSDs.
  • Affected individuals included siblings, offspring, and paternal cousins.
  • Congenital aneurysm of the muscular ventricular septum was noted in one offspring.

Findings:

  • Two siblings required surgical closure for muscular VSDs.
  • One offspring had a congenital aneurysm of the muscular ventricular septum requiring surgery.
  • Another offspring had a small muscular VSD that closed spontaneously.
  • Paternal relatives had a history of VSD, hypertrophic cardiomyopathy, and tetralogy of Fallot.
  • No evidence of 22q11 deletion was found.
  • The familial distribution suggests autosomal dominant inheritance.

Implications:

  • The findings suggest a significant genetic component in VSDs, potentially with autosomal dominant inheritance.
  • Echocardiography and precise diagnosis of VSD closure may reveal a larger genetic influence in other families.
  • This study highlights the importance of family history in diagnosing congenital heart defects.

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