TY - JOUR
T1 - Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
AU - Politano, L.
AU - Nigro, V.
AU - Passamano, L.
AU - Petretta, V.
AU - Comi, L. I.
AU - Papparella, S.
AU - Nigro, G.
AU - Rambaldi, P. F.
AU - Raia, P.
AU - Pini, A.
AU - Mora, M.
AU - Giugliano, M. A M
AU - Esposito, M. G.
AU - Nigro, G.
PY - 2001
Y1 - 2001
N2 - Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called α-, β-, γ-, δ-and ε-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in δ-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 β-, γ- and δ-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in γ- and δ-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%.
AB - Sarcoglycanopathies constitute a subgroup of limb-girdle recessive muscular dystrophies due to defects in sarcoglycan complex that comprises five distinct transmembrane proteins called α-, β-, γ-, δ-and ε-sarcoglycans. As it is well known that sarcoglycans are expressed both in heart and in skeletal muscles and a complete deficiency in δ-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 β-, γ- and δ-sarcoglycanopathies, while initial signs of a dilated cardiomyopathy in γ- and δ-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%.
KW - Cardiac involvement
KW - Respiratory involvement
KW - Sarcoglycanopathy
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U2 - 10.1016/S0960-8966(00)00174-7
DO - 10.1016/S0960-8966(00)00174-7
M3 - Article
C2 - 11257475
AN - SCOPUS:0035097338
VL - 11
SP - 178
EP - 185
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 2
ER -