Please use this identifier to cite or link to this item: https://doi.org/10.1536/ihj.20-354
Title: Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging A Case for Routine Cardiac Screening?
Authors: Tan, Sarah Ming Li
Ong, Ching Ching 
Tan, Kong Bing 
Chin, Hui-Lin 
Paliwal, Prakash R 
Ng, Kay Wei Ping 
Lin, Weiqin 
Keywords: Cardiac imaging
Dysferlin
Dysferlinopathy
Myocardial fibrosis
Non-ischemic cardiomyopathy
Issue Date: 1-Jan-2021
Publisher: INT HEART JOURNAL ASSOC
Citation: Tan, Sarah Ming Li, Ong, Ching Ching, Tan, Kong Bing, Chin, Hui-Lin, Paliwal, Prakash R, Ng, Kay Wei Ping, Lin, Weiqin (2021-01-01). Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging A Case for Routine Cardiac Screening?. INTERNATIONAL HEART JOURNAL 62 (1) : 186-192. ScholarBank@NUS Repository. https://doi.org/10.1536/ihj.20-354
Abstract: Dysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy. Clinically, it manifests as early adulthood onset of muscle weakness with markedly elevated creatine kinase levels. The main phenotypes are limb-girdle muscular dystrophy type 2B (LGMD2B), affecting proximal muscles, and Miyoshi myopathy (MM), affecting distal muscles. Dysferlin is also present in cardiomyocytes, and case reports have emerged of cardiac abnormalities in dysferlinopathy. While routine methods of cardiac screening, namely, elec-trocardiography or echocardiography, are convenient and noninvasive, they often exhibit insufficient diagnostic sensitivity for detecting subclinical cardiac remodeling during early stages of cardiomyopathy. Cardiac magnetic resonance imaging though can provide accurate assessment of cardiac chamber sizes and function. With gad-olinium administration, it can also detect areas of myocardial scarring and fibrosis. Early diagnosis of neuromuscular disease-related cardiomyopathy is of clinical significance, as appropriate treatment can retard myocardial fibrosis, delaying cardiomyopathy progression. We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy.
Source Title: INTERNATIONAL HEART JOURNAL
URI: https://scholarbank.nus.edu.sg/handle/10635/228810
ISSN: 1349-2365
1349-3299
DOI: 10.1536/ihj.20-354
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