Nemes Attila, Dézsi Lívia, Domsik Péter, Kalapos Anita, Forster Tamás, Vécsei László
2nd Department of Medicine and Cardiology Center, Albert Szent-Györgyi Clinical Center, Medical Faculty, University of Szeged, Szeged, Hungary.
Department of Neurology, Albert Szent-Györgyi Clinical Center, Medical Faculty, University of Szeged, Szeged, Hungary.
Quant Imaging Med Surg. 2017 Dec;7(6):685-690. doi: 10.21037/qims.2017.10.09.
Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the gene encoding calpain, a protein involved in muscle membrane remodeling and repair. This paper gives an overview of the genetic background, clinical course, and diagnosis of the disease, and presents the first case of calpainopathy in which cardiac deformation mechanics was investigated. Three-dimensional speckle-tracking echocardiography (3DSTE) demonstrated reduced left ventricular (LV) strains and increased LV apical rotation and twist, suggestive of asymptomatic subclinical LV dysfunction. Cardiac involvement has not been previously reported in calpainopathy.
钙蛋白酶病或2A型肢带型肌营养不良症（LGMD2A）是常染色体隐性遗传肢带型肌营养不良症中最常见的类型。该疾病由编码钙蛋白酶的基因突变引起，钙蛋白酶是一种参与肌肉膜重塑和修复的蛋白质。本文概述了该疾病的遗传背景、临床病程及诊断，并呈现了首例对心脏变形力学进行研究的钙蛋白酶病病例。三维斑点追踪超声心动图（3DSTE）显示左心室（LV）应变降低，左心室心尖旋转和扭转增加，提示无症状亚临床左心室功能障碍。此前钙蛋白酶病中尚未有心脏受累的报道。
