HCM Institute, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts.
HCM Institute, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts.
Am J Cardiol. 2020 Jul 15;127:135-138. doi: 10.1016/j.amjcard.2020.04.020. Epub 2020 Apr 23.
A unique clinical circumstance involving middle-aged male identical twins with obstructive hypertrophic cardiomyopathy (HC) is reported. The concordance of morphologic (i.e., phenotype) findings and clinical course between the 2 patients is remarkable, including timing of the onset and progression of heart failure due to left ventricular outflow tract obstruction, frequency of paroxysmal atrial fibrillation and beneficial response to surgical myectomy and Cox-Maze IV procedure (performed 14 days apart). Histopathology of resected ventricular septal muscle showed identical hallmarks of HC including myocyte disorganization, small vessel disease, and myocardial fibrosis. A missense variant of the CRYAB gene was identified as potentially relevant to the pathogenesis of HC in the twins. Taken together, these observations support a powerful genetic determinant for the morphologic and clinical expression of HC, with little or no environmental influence.
现报道一对患有梗阻性肥厚型心肌病（HC）的中年男性同卵双胞胎的独特临床情况。这 2 名患者在形态学（即表型）发现和临床病程方面具有显著一致性，包括左心室流出道梗阻性心力衰竭的发病时间和进展情况、阵发性心房颤动的发生频率以及对手术心肌切除术和 Cox-Maze IV 手术的有益反应（相隔 14 天进行）。切除的室间隔心肌的组织病理学显示出 HC 的相同特征，包括肌细胞排列紊乱、小血管疾病和心肌纤维化。在双胞胎中发现 CRYAB 基因突变，该突变可能与 HC 的发病机制有关。综上所述，这些观察结果支持 HC 的形态和临床表达具有强大的遗传决定因素，几乎没有或没有环境影响。
