S.P.26 Frequency, nature, severity and progression of cardiac involvement in sarcoglycanopathies

Abstract Objective: To describe the frequency, nature, severity and progression of cardiac abnormalities in a cohort of Dutch sarcoglycanopathypatients. Twenty-four patients with sarcoglycanopathy(8 alpha, 9 beta, 7 gamma; 75% females) were interviewed by standardized questionnaires and assigned a functional score. Electrocardiography, echocardiography and 24-h electrocardiographywere performed. Eleven of them were examined earlier, median follow-up time was 9 years. Median age of the patients was 25 years (range 8–59 years). Hypertension was present in 4%, exertion induced dyspnoea in 25%. One had an implantable cardioverter defibrillator(ICD) implanted because of sustained ventricular tachycardia. Beta blockerswere used by 13% of the patients and 17% used ACE-inhibitors. Eighty-seven percent had cardiac abnormalities. ECG abnormalities were present in 10 (50%) and echocardiographic abnormalities, including dilated cardiomyopathy (DCM) or decreased left ventricular function, were present in 13 (54%). Diastolic dysfunction was found in 46% of the patients. There were no significant differences in demographic parameters or ECG abnormalities between patients with or without DCM. Autopsy in one patient showed cardiac enlargement with patchy fibrosis and inflammation. Two out of 11 previously examined patients developed DCM during follow-up. Because of the observed cardiac abnormalities which have a serious impact on these patients we recommend regular cardiac monitoringincluding ECG and ECHO in sarcoglycanopathies.