Politano L, Nigro V, Passamano L, Petretta V, Comi L I, Papparella S, Nigro G, Rambaldi P F, Raia P, Pini A, Mora M, Giugliano M A, Esposito M G, Nigro G
Dipartimento di Internistica Clinica e Sperimentale, Sezione di Cardiomiologia e Genetica Medica, Seconda Università di Napoli, I Policlinico, Piazza Miraglia, 80138, Naples, Italy.
Neuromuscul Disord. 2001 Mar;11(2):178-85. doi: 10.1016/s0960-8966(00)00174-7.
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%.
肌聚糖病是肢带型隐性肌营养不良症的一个亚组，其病因是肌聚糖复合物存在缺陷，该复合物由五种不同的跨膜蛋白组成，分别称为α-、β-、γ-、δ-和ε-肌聚糖。众所周知，肌聚糖在心脏和骨骼肌中均有表达，δ-肌聚糖的完全缺失是叙利亚仓鼠BIO.14心肌病的病因，我们通过临床、心电图、超声心动图、闪烁扫描和肺活量测定评估，对20例肌聚糖病患者的心脏和呼吸受累情况进行了研究。在所有患者中，31.3%的患者心脏功能正常；43.7%的患者存在临床前心肌病；6.3%的患者存在致心律失常性心肌病；18.7%的患者出现扩张型心肌病的初始体征。1例患者的数据为回顾性检查。未发现心脏和骨骼肌受累之间存在相关性。关于肌聚糖病的类型，β-、γ-和δ-肌聚糖病出现了缺氧性心肌损伤的体征，而γ-和δ-肌聚糖病则发现了扩张型心肌病的初始体征。在所有患者中，23.5%的患者呼吸功能正常，35.4%的患者有轻度损害，29.4%的患者有中度损害，11.7%的患者有重度损害。
