Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy
Background 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. Reco...
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Wiley
2025-03-01
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| Series: | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
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| Online Access: | https://www.ahajournals.org/doi/10.1161/JAHA.124.038208 |
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| author | Kenta Sugiura Toru Kubo Shunsuke Inoue Seitaro Nomura Takanobu Yamada Takashige Tobita Yuki Kuramoto Yohei Miyashita Yoshihiro Asano Yuri Ochi Kazuya Miyagawa Yuichi Baba Tatsuya Noguchi Takayoshi Hirota Naohito Yamasaki Hiroyuki Morita Issei Komuro Hiroaki Kitaoka |
| author_facet | Kenta Sugiura Toru Kubo Shunsuke Inoue Seitaro Nomura Takanobu Yamada Takashige Tobita Yuki Kuramoto Yohei Miyashita Yoshihiro Asano Yuri Ochi Kazuya Miyagawa Yuichi Baba Tatsuya Noguchi Takayoshi Hirota Naohito Yamasaki Hiroyuki Morita Issei Komuro Hiroaki Kitaoka |
| author_sort | Kenta Sugiura |
| collection | DOAJ |
| description | Background 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. Methods 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. Results 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, P<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%; P=0.005). Conclusions 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. |
| format | Article |
| id | doaj-art-d3e922dcf8264c2e8167b3fa5263d661 |
| institution | OA Journals |
| issn | 2047-9980 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Wiley |
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| series | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease |
| spelling | doaj-art-d3e922dcf8264c2e8167b3fa5263d6612025-08-20T02:34:35ZengWileyJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease2047-99802025-03-0114610.1161/JAHA.124.038208Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic CardiomyopathyKenta Sugiura0Toru Kubo1Shunsuke Inoue2Seitaro Nomura3Takanobu Yamada4Takashige Tobita5Yuki Kuramoto6Yohei Miyashita7Yoshihiro Asano8Yuri Ochi9Kazuya Miyagawa10Yuichi Baba11Tatsuya Noguchi12Takayoshi Hirota13Naohito Yamasaki14Hiroyuki Morita15Issei Komuro16Hiroaki Kitaoka17Department of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiovascular Medicine, Graduate School of Medicine The University of Tokyo JapanDepartment of Cardiovascular Medicine, Graduate School of Medicine The University of Tokyo JapanDepartment of Cardiovascular Medicine, Graduate School of Medicine The University of Tokyo JapanDepartment of Cardiology Tokyo Women’s Medical University Tokyo JapanDepartment of Cardiovascular Medicine Osaka University Graduate School of Medicine Suita JapanDepartment of Cardiovascular Medicine Osaka University Graduate School of Medicine Suita JapanDepartment of Cardiovascular Medicine Osaka University Graduate School of Medicine Suita JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanDepartment of Cardiovascular Medicine, Graduate School of Medicine The University of Tokyo JapanDepartment of Frontier Cardiovascular Science The University of Tokyo Graduate School of Medicine Tokyo JapanDepartment of Cardiology and Geriatrics, Kochi Medical School Kochi University Kochi JapanBackground 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. Methods 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. Results 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, P<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%; P=0.005). Conclusions 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.https://www.ahajournals.org/doi/10.1161/JAHA.124.038208apical hypertrophic cardiomyopathy (ApHCM)geneticshypertrophic cardiomyopathy (HCM)phenotypeprognosis |
| spellingShingle | Kenta Sugiura Toru Kubo Shunsuke Inoue Seitaro Nomura Takanobu Yamada Takashige Tobita Yuki Kuramoto Yohei Miyashita Yoshihiro Asano Yuri Ochi Kazuya Miyagawa Yuichi Baba Tatsuya Noguchi Takayoshi Hirota Naohito Yamasaki Hiroyuki Morita Issei Komuro Hiroaki Kitaoka Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease apical hypertrophic cardiomyopathy (ApHCM) genetics hypertrophic cardiomyopathy (HCM) phenotype prognosis |
| title | Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy |
| title_full | Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy |
| title_fullStr | Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy |
| title_full_unstemmed | Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy |
| title_short | Unveiling Clinical and Genetic Distinctions in Pure‐Apical Versus Distal‐Dominant Apical Hypertrophic Cardiomyopathy |
| title_sort | unveiling clinical and genetic distinctions in pure apical versus distal dominant apical hypertrophic cardiomyopathy |
| topic | apical hypertrophic cardiomyopathy (ApHCM) genetics hypertrophic cardiomyopathy (HCM) phenotype prognosis |
| url | https://www.ahajournals.org/doi/10.1161/JAHA.124.038208 |
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