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European Heart Journal 2001 22(24):2284-2289; doi:10.1053/euhj.2001.2836
Copyright © 2001 by the European Society of Cardiology.
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Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population

Y. Miyamotoa, H. Akitab,f1, N. Shigaa, E. Takaia, C. Iwaia, K. Mizutania, H. Kawaia, A. Takaradac and M. Yokoyamaa

a Division of Cardiovascular and Respiratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan
b Division of General Medical Science, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan
c Himeji Cardiovascular Center, Himeji, Japan

revised June 15, 2001; accepted June 20, 2001

Abstract

Aims Dilated cardiomyopathy is partly caused by a mutation of some cytoskeletal or nuclear envelope proteins. It has been confirmed recently that a missense mutation of the gene encoding desmin, a cytoskeletal protein, can cause dilated cardiomyopathy. This study was aimed at elucidating the frequency and clinical characteristics of dilated cardiomyopathy caused by desmin mutation.

Methods and Results We examined 265 Japanese patients with dilated cardiomyopathy (217 sporadic cases and 48 probands of familial dilated cardiomyopathy). The exon 8 of the desmin gene, the critical region for the pathogenesis of dilated cardiomyopathy, was analysed by polymerase chain reaction, single-strand conformation polymorphism and sequencing. The same missense mutation (Ile451Met) as reported previously was detected in three patients (1·1%). All these patients were male and sporadic, and more likely to be accompanied by characteristics such as younger age at diagnosis, lower fractional shortening and ejection fraction than each mean value of sporadic cases. The chronological changes in cardiac function were inconsistent in the three patients.

Conclusion The missense mutation (Ile451Met) of the desmin gene can be the genetic cause of dilated cardiomyopathy, although with very low frequency. The ages at diagnosis were younger and the cardiac function had deteriorated further than general cases of sporadic dilated cardiomyopathy.

Key Words: Dilated cardiomyopathy, desmin, mutation, genetics

f1 Correspondence: Hozuka Akita, MD, Division of General Medical Science, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe 650-0017 Japan.

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