Sugiura Kenta, Kubo Toru, Inoue Shunsuke, Nomura Seitaro, Yamada Takanobu, Tobita Takashige, Kuramoto Yuki, Miyashita Yohei, Asano Yoshihiro, Ochi Yuri, Miyagawa Kazuya, Baba Yuichi, Noguchi Tatsuya, Hirota Takayoshi, Yamasaki Naohito, Morita Hiroyuki, Komuro Issei, Kitaoka Hiroaki
Department of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi Japan.
Department of Cardiovascular Medicine, Graduate School of Medicine The University of Tokyo Japan.
J Am Heart Assoc. 2025 Mar 18;14(6):e038208. doi: 10.1161/JAHA.124.038208. Epub 2025 Mar 7.
Original apical hypertrophic cardiomyopathy was characterized by left ventricular hypertrophy confined to the apex below the papillary muscle level. In contrast, apical hypertrophic cardiomyopathy in Western countries often includes hypertrophy extending to the midventricular septum. Recognizing these phenotypic differences is essential as they may influence the clinical prognosis. The aim of this study was to delineate the clinical and genetic disparities between the pure-apical form, according to the original definition, and the distal-dominant form, in which hypertrophy extends to the ventricular septum without basal septal hypertrophy.
A retrospective analysis was conducted for 111 consecutive patients with apical hypertrophic cardiomyopathy with assessment of hypertrophic cardiomyopathy-related adverse events including hypertrophic cardiomyopathy-related death, heart failure admission, embolic stroke admission, and sustained ventricular tachycardia with hemodynamic instability or appropriate implantable cardioverter-defibrillator discharge. Genetic testing for hypertrophic cardiomyopathy-associated genes was performed in 72 patients.
Among the patients, 60 were classified as pure-apical form, and 51 were classified as distal-dominant form. The median age at diagnosis was 63 years, with a predominance of men in both groups. Over a follow-up period of 11.0 years, the incidence of hypertrophic cardiomyopathy-related adverse events was significantly higher in the distal-dominant group than in the pure-apical group (log-rank, <0.001). The detection rate of pathogenic or likely pathogenic variants was also significantly higher in the distal-dominant group than in the pure-apical group (26% versus 3%; =0.005).
Distinct clinical and genetic profiles of the 2 apical hypertrophic cardiomyopathy phenotypes warrant their recognition and differentiation in clinical practice due to distinct prognoses and genetic backgrounds.
原发性心尖肥厚型心肌病的特征是左心室肥厚局限于乳头肌水平以下的心尖部。相比之下，西方国家的心尖肥厚型心肌病常包括延伸至心室间隔中部的肥厚。认识到这些表型差异至关重要，因为它们可能影响临床预后。本研究的目的是根据原始定义，描绘纯心尖型与远端优势型（肥厚延伸至心室间隔而无基底间隔肥厚）之间的临床和遗传差异。
对111例连续的心尖肥厚型心肌病患者进行回顾性分析，评估肥厚型心肌病相关不良事件，包括肥厚型心肌病相关死亡、心力衰竭住院、栓塞性卒中住院以及伴有血流动力学不稳定或适当植入式心律转复除颤器放电的持续性室性心动过速。对72例患者进行了肥厚型心肌病相关基因的基因检测。
在这些患者中，60例被分类为纯心尖型，51例被分类为远端优势型。诊断时的中位年龄为63岁，两组均以男性为主。在11.0年的随访期内，远端优势组肥厚型心肌病相关不良事件的发生率显著高于纯心尖组（对数秩检验，<0.001）。远端优势组致病或可能致病变异的检出率也显著高于纯心尖组（26%对3%；P = 0.005）。
两种心尖肥厚型心肌病表型具有不同的临床和遗传特征，鉴于其不同的预后和遗传背景，在临床实践中需要对其进行识别和区分。
