| RESEARCH LETTER |
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| Year : 2016 | Volume
: 2
| Issue : 2 | Page : 128-130 |
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Desmin-related cardiomyopathy presenting as restrictive cardiomyopathy: A case report with review of literature
Kalpana Kumari1, Sudheer Arava1, TC Nag2, Ruma Ray1
1 Department of Pathology, All Institute of Medical Sciences, New Delhi, India
2 Department of Anatomy, All Institute of Medical Sciences, New Delhi, India
Correspondence Address:
Sudheer Arava
Department of Pathology, All India Institute of Medical Sciences, Academic Building, Ansari Nagar, New Delhi - 110 029
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2395-5414.191522
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Isolated cardiac involvement due to deposition of desmin is a rare cause of restrictive cardiomyopathy due to pathogenic mutation in desmin related genes. A 25 year female presented with clinical diagnosis of restrictive cardiomyopathy for which an endomyocardial biopsy was performed. Histology including ultrastructural examination showed features of desmin cardiomyopathy. |
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