| Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. | |
| | |
MedLine Citation:
|
PMID: 8614119 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
L Politano; V Nigro; G Nigro; V R Petretta; L Passamano; S Papparella; S Di Somma; L I Comi |
Related Documents
:
|
438049 - Myocarditis of probable viral origin in pups of weaning age. 9821079 - Myocarditis: a review. 17700279 - Mr-relaxometry of myocardial tissue: significant elevation of t1 and t2 relaxation time... 11665789 - Transient ventricular wall thickening in acute myocarditis: a serial echocardiographic ... 1803049 - A case of primary hypoparathyroidism complicated by heart failure. 20067169 - Cardiac involvement in myasthenia gravis--is there a specific pattern? 7782139 - Biochemical diagnosis of myocardial infarction within the thrombolytic time window. 9507439 - Fast-tracking of myocardial infarction by paramedics. 12417359 - Stroke vs. chronic progressive cerebrovascular disease: a magnetic resonance imaging st... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: JAMA : the journal of the American Medical Association 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: 2012-02-27 |
Medline Journal Info:
|
Nlm Unique ID: 7501160 Medline TA: JAMA Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 1335-8 Citation Subset: AIM; IM |
Affiliation:
|
Department of Internal and Experimental Medicine, Second Naples University, Italy. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Age Factors Cardiomyopathies / genetics*, physiopathology Child Child, Preschool Cohort Studies Dystrophin / metabolism Female Heart Function Tests Heterozygote Humans Immunohistochemistry Middle Aged Muscle, Skeletal / metabolism, pathology Muscular Dystrophies / genetics, physiopathology* Myocardium / metabolism, pathology |
| Grant Support | |
ID/Acronym/Agency:
|
287//Telethon |
| Chemical | |
Reg. No./Substance:
|
0/Dystrophin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Survival from early, intermediate, and late stages of HIV infection.
Next Document: Use of terfenadine and contraindicated drugs.