Hypertrophic cardiomyopathy in Friedreich's ataxia

被引：5

作者：

Fayssoil, A. ^{[1
]}

Nardi, O. ^{[2
]}

Orlikowski, D. ^{[2
]}

Annane, D. ^{[2
]}

机构：

[1] Hop Europeen Georges Pompidou, Serv Cardiol 3, Paris, France

[2] Hop Raymond Poincare, Serv Reanimat Med, Garches, France

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2008年 / 127卷 / 03期

关键词：

Friedreich's ataxia; frataxin; hypertrophic cardiomyopathy; echocardiography;

D O I：

10.1016/j.ijcard.2007.04.109

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Friedreich's ataxia is an autosomal recessive disorder characterized by spinocerebellar degeneration. It is caused by a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9 (9q13). We reported a case of hypertrophic cardiomyopathy associated with Friedreich's ataxia in a twenty year old patient. (C) 2007 Elsevier Ireland Ltd. All rights reserved.

引用

页码：E122 / E123

页数：2

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