Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction
Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction
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伴有心室中段梗阻的肥厚型心肌病的临床和遗传背景
DOI：
10.1038/s10038-018-0509-9
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发表时间：
2018
影响因子：
3.5
通讯作者：
Kimura Akinori
中科院分区：
文献类型：
--
作者：
Inagaki Natsuko;Hayashi Takeharu;Takei Yasuyoshi;Tanimoto Kousuke;Chikamori Taishiro;Kimura Akinori
肥厚型心肌病（HCM）的特征是原因不明的左心室肥厚。本研究旨在揭示HCM伴心室中部梗阻（HCM-MVO）亚型的临床和遗传背景。我们在我们的队列中确定了34例HCM-MVO患者，其中约一半（47%）的患者发生了不良事件。我们分析了患者中的67个心肌病相关基因。总的来说，44%的HCM-MVO患者在14个基因中携带心肌病相关遗传变异（CAGV）。只有21%的患者在主要肌节编码基因中携带HCM相关CAGV，而18%的患者在扩张型心肌病/致炎性右心室心肌病相关基因中携带CAGV。CAGV在非对称性室间隔肥厚（ASH）患者中比在无ASH患者中更常见。这些发现表明，HCM-MVO是一个高危人群，可能有不同的病因从典型的HCM。
Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. This study aimed to reveal the clinical and genetic backgrounds of the unique HCM with mid-ventricular obstruction (HCM-MVO) subtype. We identified 34 patients with HCM-MVO in our cohort, and about half (47%) of these patients experienced adverse events. We analyzed 67 cardiomyopathy-associated genes in the patients. In total, 44% of patients with HCM-MVO carried the cardiomyopathy-associated genetic variant (CAGV) in 14 genes. Only 21% of patients carried HCM-associated CAGVs in major sarcomere-encoding genes, while 18% of patients carried CAGVs in dilated cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy-associated genes. CAGVs were more frequent in patients with asymmetric septal hypertrophy (ASH) than in those without ASH. These findings suggest that HCM-MVO is a high-risk group and may have different etiologies from typical HCM.