Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
Naohito TASAKI, Kunihiro YOSHIDA, Sei-ichi HARUTA, Hiroki KOUNO, Hiroyuki ICHINOSE, Yoshihisa FUJIMOTO, Nobuyuki URASAWA, Tohru KAWAKAMI, Manabu TANIGUCHI, Shu-ji KURUSHIMA, Tadayuki SHIMAKURA
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Keywords: dystrophinopathy, congestive heart failure, creatine phosphokinase, genetic analysis
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2001 Volume 40 Issue 12 Pages 1215-1221

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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 β-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.
(Intenal Medicine 40: 1215-1221, 2001)

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