The Fabry Cardiomyopathy: Models for the Cardiologist

被引：25

作者：

Weidemann, Frank ^{[1
,2
]}

Niemann, Markus ^{[1
,2
]}

Warnock, David G. ^{[3
]}

Ertl, Georg ^{[1
,2
]}

Wanner, Christoph ^{[1
,2
]}

机构：

[1] Univ Hosp, Dept Med, Div Cardiol, Wurzburg, Germany

[2] Univ Hosp, Dept Med, Div Nephrol, Wurzburg, Germany

[3] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA

来源：

ANNUAL REVIEW OF MEDICINE, VOL 62, 2011 | 2011年 / 62卷

关键词：

echocardiography; Fabry disease; hypertrophy; ENZYME REPLACEMENT THERAPY; ALPHA-GALACTOSIDASE; AGALSIDASE-ALPHA; DISEASE; EFFICACY; MANIFESTATION; HYPERTROPHY; STORAGE; SAFETY; DEATH;

D O I：

10.1146/annurev-med-090910-085119

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Fabry disease is an X-linkal lysosomal storage disorder caused by alpha-galactosidase A deficiency. Intracellular accumulation of globotriaosylceramide starts in utero and progressively develops in various tissues and organs. Cardiac involvement is frequent, and its presentation as concentric nonobstructive left ventricular hypertrophy serves as a model for other hypertrophic cardiomyopathies. This review describes the Fabry cardiomyopathy, its treatment, and multidisciplinary patient care models. These models will help clinicians in diagnosing, assessing, and treating patients with Fabry disease. As the models can be extrapolated to other diseases, they might contribute to more optimal clinical management of patients with other cardiac disorders.

引用

页码：59 / 67

页数：9

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