{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T14:15:55Z","timestamp":1780755355505,"version":"3.54.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T00:00:00Z","timestamp":1572220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","award":["2014R1A1A2055872"],"award-info":[{"award-number":["2014R1A1A2055872"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cardiovasc Ultrasound"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n              <jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Whether mitral leaflet elongation is a primary phenotype of hypertrophic cardiomyopathy (HCM) is controversial. We investigated the genetic relevance and determinants of mitral leaflet size by performing extensive gene analyses in patients with HCM.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Anterior mitral leaflet (AML) lengths were measured in HCM patients (<jats:italic>n<\/jats:italic>\u2009=\u2009211) and age- and sex-matched controls (<jats:italic>n<\/jats:italic>\u2009=\u200930) using echocardiography with hemodynamic and chamber geometric assessments. We analyzed 82 nuclear DNA (8 sarcomeric genes, 74 other HCM-associated genes) and mitochondrial DNA. Cardiac magnetic resonance imaging (CMR) was performed in the 132 HCM patients.<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Average indexed AML was significantly longer for HCM than for controls (17.2\u2009\u00b1\u20092.3 vs. 13.3\u2009\u00b1\u20091.6\u2009mm\/m<jats:sup>2<\/jats:sup>, <jats:italic>P\u2009&lt;\u2009\u00a00.001<\/jats:italic>). Average AML length correlated with body surface area (BSA), left ventricular (LV) end-systolic volume (<jats:italic>P\u2009&lt;\u2009\u00a00.001<\/jats:italic>) and LV mass by CMR <jats:italic>(P\u2009&lt;\u20090.001)<\/jats:italic>. Average indexed AML by BSA of pure-apical HCM was significantly shorter than other typed HCM (16.6\u2009\u00b1\u20092.0 vs. 17.4\u2009\u00b1\u20092.4\u2009mm\/m<jats:sup>2<\/jats:sup>, <jats:italic>P\u2009=\u20090.025<\/jats:italic>). Indexed AML was independently correlated with left atrial wall stress. The thin filament mutation group showed larger average AML (31.9\u2009\u00b1\u20093.8 vs. 29.6\u2009\u00b1\u20093.8\u2009mm, <jats:italic>P\u2009=\u20090.045<\/jats:italic>), but this was not significant with the indexed value. No difference in AML size among subgroups was observed based on the presence of sarcomere protein or mitochondria-related gene variants (<jats:italic>P\u2009&gt;\u20090.05<\/jats:italic>).<\/jats:p>\n              <\/jats:sec>\n              <jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>AML elongation was a unique finding of HCM. However, the leaflet size was more related to chamber geometry and hypertrophy pattern rather than genetic factors within overt HCM.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12947-019-0171-1","type":"journal-article","created":{"date-parts":[[2019,10,28]],"date-time":"2019-10-28T17:05:08Z","timestamp":1572282308000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy"],"prefix":"10.1186","volume":"17","author":[{"given":"Hyemoon","family":"Chung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoonjung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chul-Hwan","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Youn","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pil-Ki","family":"Min","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Won","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae Hoon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byoung Kwon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bum-Kee","family":"Hong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Se-Joong","family":"Rim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyuck Moon","family":"Kwon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung-A","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3732-0190","authenticated-orcid":false,"given":"Eui-Young","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,10,28]]},"reference":[{"issue":"2","key":"171_CR1","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1161\/01.CIR.88.2.548","volume":"88","author":"HG Klues","year":"1993","unstructured":"Klues HG, Proschan MA, Dollar AL, Spirito P, Roberts WC, Maron BJ. 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