X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene

Intern Med. 2001 Dec;40(12):1215-21. doi: 10.2169/internalmedicine.40.1215.

Abstract

A 36-year-old Japanese man was hospitalized with coughing and exertional dyspnea (NYHA class I). He was diagnosed as having congestive heart failure, and was treated with diuretics and a beta-adrenergic blocking agent. He responded well to the treatment and his symptoms completely disappeared within a few days. Based on his clinical, laboratory, and molecular genetic findings, he was diagnosed as having X-linked dilated cardiomyopathy (XLDCM). He was found to have a large deletion in the dystrophin gene, involving exons 45-55. This is the first report on a Japanese XLDCM patient with a mutation in the central hot-spot region of this gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated / diagnosis*
  • Cardiomyopathy, Dilated / genetics*
  • Diagnosis, Differential
  • Dystrophin / genetics*
  • Electrocardiography
  • Gene Deletion*
  • Genetic Linkage / genetics
  • Humans
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • X Chromosome / genetics*

Substances

  • Dystrophin