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

Jpn Circ J. 1999 May;63(5):425-6. doi: 10.1253/jcj.63.425.


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.

Publication types

  • Case Reports

MeSH terms

  • Heart Block / genetics*
  • Heart Block / physiopathology
  • Heart Septal Defects, Atrial / genetics*
  • Heart Septal Defects, Atrial / physiopathology
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Point Mutation
  • Transcription Factors / genetics*


  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • NKX2-5 protein, human
  • Transcription Factors