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

• HOSODA Toru

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• KOMURO Issei

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• SHIOJIMA Ichiro

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• HIROI Yukio

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• HARADA Miki

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• MURAKAWA Yuji

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• HIRATA Yasunobu

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

• YAZAKI Yoshio

  Departments of Cardiovascular Medicine, University of Tokyo Graduate School of Medicine

抄録

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.

収録刊行物

• Japanese circulation journal

  Japanese circulation journal 63 (5), 425-426, 1999-04-20

  社団法人日本循環器学会

キーワード

• Atrial septal defect
• CSX
• NKX2-5
• Homebox
• Sudden cardiac death

詳細情報

• CRID: 1573105976903388032
• NII論文ID: 110002608513
• NII書誌ID: AA00690731
• ISSN: 00471828
• Web Site: https://search.jamas.or.jp/link/ui/1999215420
• 本文言語コード: en
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