{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T06:21:35Z","timestamp":1792995695387,"version":"4.5.0"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["#82001836"],"award-info":[{"award-number":["#82001836"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Municipal Science and Technology","award":["20Y11912000"],"award-info":[{"award-number":["20Y11912000"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>This study aims to clarify the association between hypertrophic patterns and genetic variants in hypertrophic cardiomyopathy (HCM) patients, contributing to the advancement of personalized management strategies for HCM.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>A comprehensive evaluation of genetic mutations was conducted in 392 HCM-affected families using Whole Exome Sequencing. Concurrently, relevant echocardiographic data from these individuals were collected. Our study revealed an increased susceptibility to enhanced septal and interventricular septal thickness in HCM patients harbouring gene mutations compared with those without. Mid-septal hypertrophy was found to be associated predominantly with myosin binding protein C3 (MYBPC3) variants, while a higher septum-to-posterior wall ratio correlated with myosin heavy chain 7 (MYH7) variants. Mutations in MYH7, MYBPC3, and other sarcomeric or myofilament genes (troponin I3 [TNNI3], tropomyosin 1 [TPM1], and troponin T2 [TNNT2]) showed a relationship with increased hypertrophy in the anterior wall, interventricular septum, and lateral wall of the left ventricle. In contrast, alpha kinase 3 (ALPK3)-associated hypertrophy chiefly presented in the apical region, while hypertrophy related to titin (TTN) and obscurin (OBSCN) mutations exhibited a uniform distribution across the myocardium. Hypertrophic patterns varied with the type and category of gene mutations, offering valuable diagnostic insights.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our findings underscore a strong link between hypertrophic patterns and genetic variants in HCM, providing a foundation for more accurate genetic testing and personalized management of HCM patients. The novel concept of \u2018gene-echocardiography\u2019 may enhance the precision and efficiency of genetic counselling and testing in HCM.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjci\/jead200","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T14:17:02Z","timestamp":1691677022000},"page":"127-135","source":"Crossref","is-referenced-by-count":27,"title":["Gene-echocardiography: refining genotype\u2013phenotype correlations in hypertrophic cardiomyopathy"],"prefix":"10.1093","volume":"25","author":[{"given":"Nianwei","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haobo","family":"Weng","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weipeng","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhendan","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangyan","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangmin","family":"Meng","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7697-9970","authenticated-orcid":false,"given":"Cuizhen","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianhong","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Echocardiography, Zhongshan Hospital, Fudan University , Shanghai Institute of Cardiovascular Disease, Shanghai Institute of Medical Imaging, Fenglin Road 180, Xuhui District, Shanghai 200032 , China"},{"name":"Department of Echocardiography, Shanghai Xuhui District Central Hospital , Huaihai Middle Road 966, Xuhui District, Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"key":"2023122122000836900_jead200-B1","doi-asserted-by":"crossref","first-page":"e159","DOI":"10.1016\/j.jacc.2020.08.045","article-title":"2020 AHA\/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology\/American heart Association joint committee on clinical practice guidelines","volume":"76","author":"Ommen","year":"2020","journal-title":"J Am Coll Cardiol"},{"key":"2023122122000836900_jead200-B2","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.jacc.2021.12.002","article-title":"Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review","volume":"79","author":"Maron","year":"2022","journal-title":"J Am Coll 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