JAPANESE CIRCULATION JOURNAL
Online ISSN : 1347-4839
Print ISSN : 0047-1828
ISSN-L : 0047-1828
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Familial Atrial Septal Defect and Atrioventricular Conduction Disturbance Associated With a Point Mutation in the Cardiac Homeobox Gene CSX/NKX2-5 in a Japanese Patient
Toru HosodaIssei KomuroIchiro ShiojimaYukio HiroiMiki HaradaYuji MurakawaYasunobu HirataYoshio Yazaki
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1999 Volume 63 Issue 5 Pages 425-426

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Abstract

Atrial septal defect (ASD) is the most common form of congenital cardiac defect in humans. Recently, point mutations in the cardiac homeobox gene CSX/NKX2-5 have been reported to cause the autosomal dominant form of familial ASD. Notably, all the affected patients exhibit atrioventricular conduction disturbance and some of them died suddenly. The first case of familial ASD with a mutation of the CSX/NKX2-5 gene in a Japanese patient is reported here. Identification of CSX/NKX2-5 mutations in ASD patients would be very important because the existence of such mutations may predict sudden cardiac death. (Jpn Circ J 1999; 63: 425 - 426)

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© 1999 THE JAPANESE CIRCULATION SOCIETY
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