[Characteristics of cardiomyopathy in recessive X-linked myodystrophy with a rapid and slow course].
OBJECTIVE
To specify cardiomyopathy development in two types of myodystrophy--with complete and partial absence of dystrophin--for detection of the role of genetic and environmental impacts.


METHODS
Clinical, genetic and electrophysiological examinations, test for creatinphosphokinase (CPK) were made in 113 patients with recessive X-linked Duchenne myodystrophy (DMD) aged 7 to 20 years and with Bekker's myodystrophy (BMD) aged 18 to 60 years. The control group consisted of 112 males matched by age and antropometric parameters.


RESULTS
The patients were diagnosed to have left ventricular (LV) diastolic dysfunction of pseudonormal or restrictive type (in BMD patients dystrophy was less severe) without changes in LV geometry. There was dissociation between the lesion of the skeletal muscles and myocardial dystrophy showing a special role of dystrophin in the myocardium. Echocardiographic examination revealed early signs of heart trouble.


CONCLUSIONS
Development of cardiomyopathy is characterized by development of diastolic dysfunction, then addition of excentric hypertrophy, later systolic dysfunction arises and growing dilation. Partial absence of dystrophin in BMD patients explains less severe structural and functional cardiac affection. The main marker of the course of myodystrophy is CPK. This parameter helps to evaluate the progress of the pathological processes in the skeletal muscles and myocardium. Electrocardiographic examination of these patients must be supplemented with echocardiography.
Vikent'ev
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D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001794:Blood Pressure / Q000502:physiology; D009202:Cardiomyopathies / Q000000981:diagnostic imaging / Q000453:epidemiology*; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D018450:Disease Progression; D016189:Dystrophin / Q000378:metabolism; D004452:Echocardiography; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000453:epidemiology* / Q000235:genetics* / Q000378:metabolism; D018487:Ventricular Dysfunction, Left / Q000453:epidemiology / Q000503:physiopathology
D016189:Dystrophin