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

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.

journal_name

Cardiol Young

journal_title

Cardiology in the young

authors

Nicolae MI,Summers KM,Radford DJ

doi

10.1017/S1047951107000996

subject

Has Abstract

pub_date

2007-10-01 00:00:00

pages

523-7

issue

5

eissn

1047-9511

issn

1467-1107

pii

S1047951107000996

journal_volume

17

pub_type

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