Desmin-related cardiomyopathy presenting as restrictive cardiomyopathy: A case report with review of literature

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.