Indian Journal of Pathology and Microbiology
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Year : 2013  |  Volume : 56  |  Issue : 4  |  Page : 402-404

Desmin-related restrictive cardiomyopathy in a pediatric patient: A case report

Departments of Pathology and Cardiology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Ruma Ray
Departments of Pathology and Cardiology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110 029
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.125349

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Restrictive cardiomyopathies in the pediatric population have diverse etiologies, including storage diseases like hemosiderosis, glycogenoses and desmin with its associated proteins. Desmin-related myopathy is a rare familial disorder of the cardiac and skeletal muscle characterized by intrasarcoplasmic accumulation of desmin-reactive deposits in the muscle cells. The patients commonly present with cardiac involvement such as conduction blocks and/or restrictive cardiomyopathy. Diagnosis of desmin cardiomyopathy depends on light microscopic evaluation of endomyocardial biopsy, where abnormal deposition of desmin can be documented on immunohistochemistry and ultrastructural examination. The index report presents the clinical, light microscopic and ultrastructural findings of desmin cardiomyopathy.

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