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

Published online by Cambridge University Press:  01 October 2007

Mugur I. Nicolae ,
Kim M. Summers  and
Dorothy J. Radford
Mugur I. Nicolae
Affiliation:
Department of Cardiology, The Prince Charles Hospital, Brisbane, Australia
Kim M. Summers
Affiliation:
School of Molecular and Microbial Sciences, The University of Queensland, Brisbane, Australia
Dorothy J. Radford*
Affiliation:
Department of Cardiology, The Prince Charles Hospital, Brisbane, Australia
*
Correspondence to: Dorothy Radford MD, Department of Cardiology, The Prince Charles Hospital, Rode Rd., Chermside, QLD 4032, Australia. Tel: +61 7 3139 4000; Fax: +61 7 3139 4715; E-mail: Dorothy_Radford@health.qld.gov.au
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Abstract

We describe 3 siblings with muscular ventricular septal defects, two requiring surgical closure. One of their offspring had a rare congenital aneurysm of the muscular ventricular septum, also requiring surgery. Another had a small muscular ventricular septal defect which closed spontaneously. Their father had echocardiographic evidence suggestive of a closed muscular defect. Paternal cousins have had ventricular septal defect, hypertrophic cardiomyopathy, and tetralogy of Fallot. There was no evidence of 22q11 deletion.

Although ventricular septal defects are the most common congenital heart defect, such familial clustering is uncommon. The distribution of cases in this family suggests autosomal dominant inheritance. With echocardiography, and more precise diagnosis of defects which close, a larger genetic component may be revealed in other families.

Keywords

Cardiac geneticsinterventricular communicationsspontaneous closuredominant mendelian inheritance
Type
Original Article
Information
Cardiology in the Young , Volume 17 , Issue 5 , October 2007 , pp. 523 - 527
Copyright
Copyright © Cambridge University Press 2007

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