Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits
Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits
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DOI：
10.1016/s0735-1097(98)00026-6
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发表时间：
1998-03-01
影响因子：
24
通讯作者：
Ferrans, VJ
中科院分区：
文献类型：
--
作者：
Arbustini, E;Morbini, P;Ferrans, VJ
目标.我们提供了一系列患者的临床资料和心脏及骨骼肌活检结果，这些患者的超微结构中有被鉴定为结蛋白的颗粒丝状物质积聚。结蛋白心肌病是一种以心肌和骨骼肌结蛋白异常沉积为特征的疾病。通过临床评估、肌内膜活检和骨骼肌活检、光镜和电镜以及免疫组织化学来确定结蛋白心肌病的存在。631例原发性心肌病患者接受了肌内膜活检（EMB）。在特发性限制性心肌病患者的12个活检样本中发现5个超微结构的颗粒丝状物质的积累，并通过免疫电子显微镜证明了与抗结蛋白抗体的特异性免疫反应性。免疫组化结果在光学显微镜下是非特异性的，因为弥漫性细胞内分布的结蛋白。所有5例患者均存在房室（AV）阻滞和轻度或亚临床肌病。在所有5例患者的骨骼肌活检样本中均存在颗粒丝状物质，与心脏活检样本不同，光镜免疫组化分析显示了特征性肌膜下结蛋白沉积。两名患者是一级亲属（母亲和儿子）;另一名儿子患有一度房室传导阻滞，但没有肌病或心肌病，表现出类似的骨骼肌光和超微结构的结果。电泳结果显示，在家族性病例的心肌和骨骼肌中，结蛋白有两种亚型，一种正常，另一种分子量较低。结蛋白心肌病在限制性心肌病的鉴别诊断中必须考虑，特别是在房室传导阻滞和肌病患者中。诊断依赖于EMB样本的超微结构检查或骨骼肌活检样本的光镜免疫组织化学研究。家族性结蛋白病可能表现为亚临床疾病，并可能与结蛋白亚型异常有关。(C)1998年，美国心脏病学会。
Objectives. We present clinical data and heart and skeletal muscle biopsy findings from a series of patients with ultrastructural accumulations of granulofilamentous material identified as desmin.Background. Desmin cardiomyopathy is a poorly understood disease characterized by abnormal desmin deposits in cardiac and skeletal muscle.Methods. Clinical evaluation, endomyocardial and skeletal muscle biopsy, light and electron microscopy and immunohistochemistry were used to establish the presence of desmin cardiomyopathy.Results. Six hundred thirty-one patients with primary cardiomyopathy underwent endomyocardial biopsy (EMB). Ultrastructural accumulations of granulofilamentous material were found in 5 of 12 biopsy samples from patients with idiopathic restrictive cardiomyopathy and demonstrated specific immunoreactivity with anti-desmin antibodies by immunoelectron microscopy. Immunohistochemical findings on light microscopy were nonspecific because of a diffuse intracellular distribution of desmin. All five patients had atrioventricular (AV) block and mild or subclinical myopathy. Granulofilamentous material was present in skeletal muscle biopsy samples in all five patients, and unlike the heart biopsy samples, light microscopic immunohistochemical analysis demonstrated characteristic subsarcolemmal desmin deposits. Two patients were first degree relatives (mother and son); another son with first-degree AV block but without myopathy or cardiomyopathy demonstrated similar light and ultrastructural findings in skeletal muscle. Electrophoretic studies demonstrated two isoforms of desmin-one of normal and another of lower molecular weight-in cardiac and skeletal muscle of the familial cases.Conclusions. Desmin cardiomyopathy must be considered in the differential diagnosis of restrictive cardiomyopathy, especially in patients with AV block and myopathy. Diagnosis depends on ultrastructural examination of EMB samples or light microscopic immunohistochemical studies of skeletal muscle biopsy samples. Familial desminopathy may manifest as subclinical disease and may be associated with abnormal isoforms of desmin. (C) 1998 by the American College of Cardiology.