title: Heart involvement in muscular dystrophies due to sarcoglycan gene mutations.
abstract: Mutations in the sarcoglycan genes cause autosomal-recessive muscular dystrophies. Because sarcoglycan genes and their protein products are highly expressed both in skeletal and cardiac muscle, patients with these mutations might be expected to be at risk to develop dilated cardiomyopathy. We therefore studied 13 patients with alpha-, beta-, gamma-sarcoglycan gene mutations by thorough cardiological assessment. Electrocardiographic or echocardiographic abnormalities were observed in about 30% of cases showing a severe course of muscular dystrophy. No correlation was found between the presence of cardiac abnormalities and the type of mutation or sarcoglycan gene involved. The cardiac involvement was never severe, but it may be detected in early stages of the muscle disease. The absence of overt cardiac dysfunction may be due to lower sarcoglycan protein expression in cardiac than skeletal muscle or to less sarcolemmal instability at the myocardial level, possibly related to the different distribution of forces generated by contraction of the myocardium with respect to proximal limb-girdle muscles.
authors: Department of Cardiology, University of Padua, Italy.
authors: P
authors: P
authors: Melacini
authors: M
authors: M
authors: Fanin
authors: D J
authors: DJ
authors: Duggan
authors: M P
authors: MP
authors: Freda
authors: A
authors: A
authors: Berardinelli
authors: G A
authors: GA
authors: Danieli
authors: A
authors: A
authors: Barchitta
authors: E P
authors: EP
authors: Hoffman
authors: S
authors: S
authors: Dalla Volta
authors: C
authors: C
authors: Angelini
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006321:Heart / Q000502:physiology*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins