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
收藏
页码：E122 / E123
页数：2
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