Logo
Journal of Rare Cardiovascular Diseases
ISSN: 2299-3711 (Print)
e-ISSN: 2300-5505 (Online)
Menu
Desmin – related restrictive cardiomyopathy (RCD code: III-3E)
Jakub Stępniewski
,  
Grzegorz Kopeć
,  
Piotr Wilkołek
,  
Paweł Rubiś
,  
Bartosz Sobień
,  
Piotr Podolec
Show More
Full Text
PDF
Abstract
Desmin – related myopathy is a chronic neuromuscular disorder caused by a mutation of desmin, an intermediate filament of the myocardial, skeletal, and smooth muscles. Clinical manifestations include skeletal myopathy, cardiac abnormalities, conduction disorders, or various types of arrhythmias. We present a case of a 33‑year‑old male with an end – stage restrictive cardiomyopathy and peripheral muscles myopathy caused by desmin mutation. JRCD 2013; 1 (5): 20–24
Journal Help
User
Username:
Password:
Remember
Keywords
Classification of Rare Cardiovascular Diseases anticoagulation atrial fibrillation atrial septal defect cardiomyopathy computed tomography congenital heart disease echocardiography electrocardiogram electrocardiography heart failure implantable cardioverter‑defibrillator magnetic resonance imaging pregnancy pulmonary arterial hypertension pulmonary hypertension rare cardiovascular disease rare disease right heart catheterization right ventricular failure
Journal Content
Search:
Browse
Instruction for authors
pdf
Submit an article
pdf
Logo
Copyright © Copyright © 2025 Journal of Rare Cardiovascular Diseases