Objective: To investigate the clinical and myopathological characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families.
Methods: Thirty-six individuals (18 male, 18 female) were from 4 autosomal dominant inherited families and 1 sporadic case. Nineteen patients manifested myopathy followed by cardiomyopathy; 13 patients presented with isolated cardiomyopathy; 1 patient had isolated myopathy; 3 patients died of cardiac diseases without detailed clinical information. Out of the 23 patients underwent electrocardiogram examinations, 20 patients showed kinds of abnormalities in cardiac conduction block. Echocardiogram revealed dilated cardiomyopathy in one case, hypertrophic cardiomyopathy in one case, and restrictive cardiomyopathy in two cases. Muscle specimens from 7 different patients were performed for histological, immunohistochemistry and ultrastructural examinations. All exons of the desmin gene were screened in 21 patients, 17 asymptomatic family individuals and 50 Chinese controls.
Results: Muscle biopsies revealed multiple proteins aggregated in muscle fibers, also supported by immunostaining and electroscopic examinations. Five novel heterogeneous mutations were identified in 4 families and one sporadic case.
Conclusions: Novel mutations of desmin gene were linked with cardiomyopathy in patients from 5 Chinese families with desminopathy.