Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families
10.3760/cma.j.issn.0253-3758.2010.05.010
- VernacularTitle:结蛋白基因突变相关性心肌病五家系临床和遗传特点
- Author:
Dao-Jun HONG
1
;
Wei ZHANG
;
Teng-Yong JIANG
;
Lei FENG
;
Zhao-Xia WANG
;
Yun YUAN
Author Information
1. 北京大学第一医院
- Keywords:
Cardiomyopathies;
Heart block;
Mutation;
Desminopathy
- From:
Chinese Journal of Cardiology
2010;38(5):420-424
- CountryChina
- Language:Chinese
-
Abstract:
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 cardiomyopahty 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.
