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 Hosoda; Issei Komuro; Ichiro Shiojima; Yukio Hiroi; Miki Harada; Yuji Murakawa; Yasunobu Hirata; Yoshio Yazaki

doi:10.1253/jcj.63.425

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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 Hosoda, Issei Komuro, Ichiro Shiojima, Yukio Hiroi, Miki Harada, Yuji Murakawa, Yasunobu Hirata, Yoshio Yazaki

Author information

Toru Hosoda
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Issei Komuro
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Ichiro Shiojima
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Yukio Hiroi
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Miki Harada
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Yuji Murakawa
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Yasunobu Hirata
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine
Yoshio Yazaki
Department of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

Keywords: Atrial septal defect, Homeobox, Sudden cardiac death

JOURNAL FREE ACCESS

1999 Volume 63 Issue 5 Pages 425-426

DOI https://doi.org/10.1253/jcj.63.425

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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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