Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging
Autor: | Prakash R Paliwal, Weiqin Lin, Ching Ching Ong, Kay Wei Ping Ng, Kong Bing Tan, Sarah Ming Li Tan, Hui-Lin Chin |
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Rok vydání: | 2021 |
Předmět: |
medicine.medical_specialty
Dysferlinopathy biology medicine.diagnostic_test business.industry Cardiomyopathy Muscle weakness General Medicine 030204 cardiovascular system & hematology medicine.disease Dysferlin 03 medical and health sciences 0302 clinical medicine Cardiac magnetic resonance imaging Internal medicine Myocardial scarring Cardiology medicine biology.protein Myocyte 030212 general & internal medicine medicine.symptom Muscular dystrophy Cardiology and Cardiovascular Medicine business |
Zdroj: | International Heart Journal. 62:186-192 |
ISSN: | 1349-3299 1349-2365 |
Popis: | 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, electrocardiography 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 gadolinium 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. |
Databáze: | OpenAIRE |
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