Related Experiment Video
Updated: May 2, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study
Steven M Schade van Westrum1, Lukas R C Dekker, Willem G de Voogt
1Department of Neurology, Academic Medical Centre, Meibergdreef 9, 1100 DD, Amsterdam, The Netherlands.
Introduction:
The aim of this study is to describe the frequency, nature, severity, and progression of cardiac abnormalities in a cohort of Dutch sarcoglycanopathy patients.
Methods:
In this cross-sectional cohort study, patients were interviewed using a standardized questionnaire and assigned a functional score. Electrocardiography (ECG), echocardiography, and 24-h ECG were performed.
Results:
Twenty-four patients with sarcoglycanopathy had a median age of 25 years (range, 8-59 years). Beta blockers were used by 13%, and 17% used angiotensin-converting enzyme inhibitors. ECG abnormalities were present in 5 (21%), and 4 (17%) fulfilled the criteria for dilated cardiomyopathy (DCM). There were no significant differences in median age or severity of disease between patients with or without DCM. Eleven patients were examined earlier. Median follow-up time was 10 years. Two of the 11 patients (18%) developed DCM during follow-up.
Conclusions:
Seventeen percent of the patients with sarcoglycanopathy were found to have dilated cardiomyopathy. We recommend biannual cardiac monitoring, including ECG and echocardiography.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Acute Coronary Syndrome III: Diagnostic Studies
Lysosomal Hydrolases

