Document Detail

Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies.
MedLine Citation:
PMID:  8614119     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To characterize the presence and behavior of the dystrophinopathic myocardial damage in female carriers of a gene defect at the Xp21 locus of the X chromosome that causes Duchenne and Becker muscular dystrophies (DMD and BMD).
DESIGN: Cohort study from April 1, 1985, to April 30, 1995, with cardiologic follow-up performed yearly for a minimum of 3 to a maximum of 10 years.
SETTING: Counseling center for genetic muscular disorders.
PATIENTS: A total of 197 women and girls aged 5 to 60 years ascertained to be carriers of the DMD (n = 152) or BMD (n = 45) gene.
MAIN OUTCOME MEASURES: Cardiac status at yearly examinations as determined by 12-lead electrocardiogram (ECG), 24-hour ambulatory ECG, M-mode and 2-dimensional echocardiography, and carotid pulse tracing. Myocardial scintigram was performed on each individual at least twice during the study. Immunohistochemical analysis of dystrophin from myocardium and/or skeletal muscle biopsy was performed in 12 carriers.
RESULTS: Preclinical or clinically evident myocardial involvement was found in 166 cases (84.3%), without significant differences in percentage and behavior between DMD and BMD carriers. Its occurrence increased significantly with age, from 54.5% (18 cases) in carriers aged between 5 and 16 years to 90.2% (148 cases) in carriers older than 16 years. Dystrophin anomalies were detected at the membrane level of the myocardial fibers in all endomyocardial biopsy specimens.
CONCLUSIONS: Genetic anomalies can be considered the primary cause of myocardial damage in carriers of dystrophinopathic myopathies; myocardial damage shows the same behavior already described in DMD and BMD patients and progresses from preclinical to dilated cardiomyopathy, passing through stages of myocardial hypertrophy or dysrhythmias.
L Politano; V Nigro; G Nigro; V R Petretta; L Passamano; S Papparella; S Di Somma; L I Comi
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  JAMA     Volume:  275     ISSN:  0098-7484     ISO Abbreviation:  JAMA     Publication Date:  1996 May 
Date Detail:
Created Date:  1996-05-31     Completed Date:  1996-05-31     Revised Date:  2014-09-17    
Medline Journal Info:
Nlm Unique ID:  7501160     Medline TA:  JAMA     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1335-8     Citation Subset:  AIM; IM    
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MeSH Terms
Age Factors
Cardiomyopathies / genetics*,  physiopathology
Child, Preschool
Cohort Studies
Dystrophin / metabolism
Heart Function Tests
Middle Aged
Muscle, Skeletal / metabolism,  pathology
Muscular Dystrophies / genetics,  physiopathology*
Myocardium / metabolism,  pathology
Grant Support
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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