Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

Thorough nan-invasive cardiovascular studies were conducted in a series of ten gamma-sarcoglycanopathy Gypsy patients with the founder C283Y mutation in 13q12. Results were compared with those obtained in an age-matched group of normal boys and girls. The studies included electrocardiographic and ec hocardiographic evaluations using pulsed wave Doppler tissue imaging to ass ess regional diastolic function and myocardial velocities at various levels . This study confirms the significant electrocardiographic abnormalities de scribed in previous studies. Furthermore, measurement of myocardial velocit y at different levels demonstrated an abnormal relaxation pattern in the tr icuspid annulus in four of the oldest patients, which strongly suggests int rinsic myocardial involvement of the right ventricle. To our knowledge, the se specific studies have not been previously performed in a clinically and genetically homogeneous group of gamma-sarcoglycanopathy patients and sugge st primary myocardial involvement probably due to gamma -sarcoglycan defici ency in cardiac muscle fibres. Our results could be of interest in the foll ow-up of these patients and the prevention and treatment of late cardiologi cal complications. (C) 2000 Elsevier Science B.V. All rights reserved.