Magrì Damiano, Mastromarino Vittoria, Gallo Giovanna, Zachara Elisabetta, Re Federica, Agostoni Piergiuseppe, Giordano Dario, Rubattu Speranza, Forte Maurizio, Cotugno Maria, Torrisi Maria Rosaria, Petrucci Simona, Germani Aldo, Savio Camilla, Maruotti Antonello, Volpe Massimo, Autore Camillo, Piane Maria, Musumeci Beatrice
Department of Clinical and Molecular Medicine, Sapienza University, 00100 Rome, Italy.
Unit of Pediatric Cardiology and Cardiac Surgery, Sant'Orsola Hospital, 40100 Bologna, Italy.
J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636.
The role of genetic testing over the clinical and functional variables, including data from the cardiopulmonary exercise test (CPET), in the hypertrophic cardiomyopathy (HCM) risk stratification remains unclear. A retrospective genotype-phenotype correlation was performed to analyze possible differences between patients with and without likely pathogenic/pathogenic (LP/P) variants. A total of 371 HCM patients were screened at least for the main sarcomeric genes (myosin binding protein C), (β-myosin heavy chain), (cardiac troponin I) and (cardiac troponin T): 203 patients had at least an LP/P variant, 23 patients had a unique variant of uncertain significance (VUS) and 145 did not show any LP/P variant or VUS. During a median 5.4 years follow-up, 51 and 14 patients developed heart failure (HF) and sudden cardiac death (SCD) or SCD-equivalents events, respectively. The LP/P variant was associated with a more aggressive HCM phenotype. However, left atrial diameter (LAd), circulatory power (peak oxygen uptake*peak systolic blood pressure, CP%) and ventilatory efficiency (C-index = 0.839) were the only independent predictors of HF whereas only LAd and CP% were predictors of the SCD end-point (C-index = 0.738). The present study reaffirms the pivotal role of the clinical variables and, particularly of those CPET-derived, in the HCM risk stratification.
基因检测在肥厚型心肌病（HCM）风险分层中相对于临床和功能变量（包括心肺运动试验[CPET]数据）的作用仍不明确。进行了一项回顾性基因型-表型相关性分析，以分析有和没有可能致病/致病（LP/P）变异的患者之间的可能差异。总共对371例HCM患者至少进行了主要肌节基因（肌球蛋白结合蛋白C）、（β-肌球蛋白重链）、（心肌肌钙蛋白I）和（心肌肌钙蛋白T）的筛查：203例患者至少有一个LP/P变异，23例患者有一个意义未明的独特变异（VUS），145例患者未显示任何LP/P变异或VUS。在中位5.4年的随访期间，分别有51例和14例患者发生心力衰竭（HF）和心源性猝死（SCD）或SCD等效事件。LP/P变异与更具侵袭性的HCM表型相关。然而，左心房直径（LAd）、循环功率（峰值摄氧量*峰值收缩压，CP%）和通气效率（C指数=0.839）是HF的唯一独立预测因素，而只有LAd和CP%是SCD终点的预测因素（C指数=0.738）。本研究重申了临床变量，特别是那些源自CPET的变量在HCM风险分层中的关键作用。
