Abstract | OBJECTIVE: To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes. DESIGN: In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic strictly defined patients with limb girdle muscular dystrophy, cardiac evaluation included history, physical examination, chest x ray, electrocardiography, 24 hour ECG Holter monitoring, and echocardiography. In 35 of the 71 autosomal recessive and sporadic cases muscle biopsies were available for sarcoglycan analysis. MAIN RESULTS:
Dilated cardiomyopathy was present in one autosomal dominant case and in three advanced autosomal recessive or sporadic patients, of whom two were found to have alpha sarcoglycan deficiency. Two of these three patients and three other cases showed ECG abnormalities known to be characteristic of the dystrophinopathies. A strong association between the absence of alpha sarcoglycan and the presence of dilated cardiomyopathy was found (p = 0.04). In six autosomal dominant cases there were atrioventricular (AV) conduction disturbances, increasing in severity with age and in concomitant presence of muscle weakness. Pacemaker implantation was necessary in four. CONCLUSIONS:
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Authors | A J van der Kooi, W G de Voogt, P G Barth, H F Busch, F G Jennekens, P J Jongen, M de Visser |
Journal | Heart (British Cardiac Society)
(Heart)
Vol. 79
Issue 1
Pg. 73-7
(Jan 1998)
ISSN: 1355-6037 [Print] England |
PMID | 9505924
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Cytoskeletal Proteins
- Dystrophin
- Membrane Glycoproteins
- Sarcoglycans
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Topics |
- Adolescent
- Adult
- Aged
- Cardiomyopathy, Dilated
(etiology)
- Child
- Cross-Sectional Studies
- Cytoskeletal Proteins
(deficiency, genetics)
- Dystrophin
(genetics)
- Echocardiography
- Electrocardiography, Ambulatory
- Female
- Genes, Dominant
- Genes, Recessive
- Genotype
- Humans
- Male
- Membrane Glycoproteins
(deficiency, genetics)
- Middle Aged
- Muscle, Skeletal
(physiopathology)
- Muscular Dystrophies
(complications, genetics)
- Sarcoglycans
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