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Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
- Source :
- Neuromuscular Disorders. 11:178-185
- Publication Year :
- 2001
- Publisher :
- Elsevier BV, 2001.
-
Abstract
- Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called alpha-, beta-, gamma-, delta-and epsilon-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in delta-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy, we studied cardiac and respiratory involvement in 20 patients with sarcoglycanopathies by clinical, electrocardiographic, echocardiographic, scintigraphic and spirometric assessments. A normal heart function was found in 31.3% of all patients; a preclinical cardiomyopathy in 43.7%; an arrhythmogenic cardiomyopathy in 6.3% and initial signs of dilated cardiomyopathy in 18.7%. In one patient the data were examined retrospectively. No correlation was found between cardiac and skeletal muscle involvement. With reference to the type of sarcoglycanopathy, signs of hypoxic myocardial damage occurred in beta-, gamma- and delta-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in gamma- and delta-sarcoglycanopathies were found. A normal respiratory function was observed in 23.5% of all patients, a mild impairment in 35.4%, a moderate impairment in 29.4%, and a severe impairment in 11.7%.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
DNA Mutational Analysis
Cardiomyopathy
Alpha (ethology)
Muscular Dystrophies
Sarcoglycans
Internal medicine
Humans
Medicine
Respiratory system
Child
Muscle, Skeletal
Genetics (clinical)
Tomography, Emission-Computed, Single-Photon
Membrane Glycoproteins
business.industry
Myocardium
Skeletal muscle
Dilated cardiomyopathy
Middle Aged
medicine.disease
Immunohistochemistry
Respiratory Function Tests
Cytoskeletal Proteins
Phenotype
medicine.anatomical_structure
Sarcoglycanopathy
Neurology
Child, Preschool
Mutation
Pediatrics, Perinatology and Child Health
Cardiology
Female
Neurology (clinical)
Cardiomyopathies
Respiratory Insufficiency
business
Sarcoglycanopathies
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi.dedup.....eb8f0a2e5f90bb6597a6c1a92eaf0273