Related Experiment Video
Updated: Oct 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Restrictive cardiomyopathy: A rare presentation of gaucher disease
Soumi Kundu1, Malay Kumar Dasgupta1, Biswajit Majumder2
1Department of Pediatrics, R. G. Kar Medical College, Kolkata, West Bengal, India.
Abstract:
Restrictive cardiomyopathy is an unusual form of cardiomyopathy accounting only for 2%-5% of all pediatric cardiomyopathies. It is mostly idiopathic. Gaucher disease in association with restrictive cardiomyopathy is extremely rare. We herein report a case of cardiac failure in an 8-year-old male child caused by restrictive cardiomyopathy. Pathogenesis of which was attributed to Gaucher disease. In any case of restrictive cardiomyopathy, Gaucher disease should be included in differential diagnosis and investigated accordingly.
Related Concept Videos
Cardiomyopathy IV: Restrictive Cardiomyopathy
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy II: Dilated Cardiomyopathy
Rheumatic Heart Disease I: Introduction
Cardiomyopathy V: Interprofessional Care

