Cardiac Magnetic Resonance Imaging in Danon Disease

被引：19

作者：

Nucifora, Gaetano ^{[1
]}

Miani, Daniela ^{[1
]}

Piccoli, Gianluca ^{[2
]}

Proclemer, Alessandro ^{[1
]}

机构：

[1] Univ Hosp Santa Maria della Misericordia, Div Cardiol, IT-33100 Udine, Italy

[2] Univ Hosp Santa Maria della Misericordia, Div Diagnost Angiog & Intervent Radiol, IT-33100 Udine, Italy

来源：

CARDIOLOGY | 2012年 / 121卷 / 01期

关键词：

Danon disease; Hypertrophic cardiomyopathy; Magnetic resonance imaging; LATE GADOLINIUM ENHANCEMENT; HYPERTROPHIC CARDIOMYOPATHY; DILATED CARDIOMYOPATHY; FIBROSIS;

D O I：

10.1159/000336448

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Danon disease is a rare X-linked dominant metabolic disorder caused by a primary deficiency in lysosome-associated membrane protein 2. It is characterized by the development of cardiac disease, skeletal myopathy and cognitive disorder. Due to the rarity of Danon disease, physicians may be unfamiliar with the phenotype, confusing it with hypertrophic cardiomyopathy or other causes of left ventricular hypertrophy. The present report demonstrates the clinical value of cardiac magnetic resonance imaging for the diagnostic work-up of Danon disease. Copyright (c) 2012 S. Karger AG, Basel

引用

页码：27 / 30

页数：4

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