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Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

DC FieldValueLanguage
dc.contributor.author권혁문-
dc.contributor.author김종윤-
dc.contributor.author김태훈-
dc.contributor.author민필기-
dc.contributor.author박철환-
dc.contributor.author윤영원-
dc.contributor.author이병권-
dc.contributor.author임세중-
dc.contributor.author최의영-
dc.contributor.author홍범기-
dc.contributor.author김윤정-
dc.contributor.author이경아-
dc.date.accessioned2019-12-18T00:56:48Z-
dc.date.available2019-12-18T00:56:48Z-
dc.date.issued2019-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/173291-
dc.description.abstractBACKGROUND: 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. METHODS: Anterior mitral leaflet (AML) lengths were measured in HCM patients (n = 211) and age- and sex-matched controls (n = 30) 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. RESULTS: Average indexed AML was significantly longer for HCM than for controls (17.2 ± 2.3 vs. 13.3 ± 1.6 mm/m2, P <  0.001). Average AML length correlated with body surface area (BSA), left ventricular (LV) end-systolic volume (P <  0.001) and LV mass by CMR (P < 0.001). Average indexed AML by BSA of pure-apical HCM was significantly shorter than other typed HCM (16.6 ± 2.0 vs. 17.4 ± 2.4 mm/m2, P = 0.025). Indexed AML was independently correlated with left atrial wall stress. The thin filament mutation group showed larger average AML (31.9 ± 3.8 vs. 29.6 ± 3.8 mm, P = 0.045), 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 (P > 0.05). CONCLUSION: 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.-
dc.description.statementOfResponsibilityopen-
dc.formatapplication/pdf-
dc.languageEnglish-
dc.publisherBioMed Central-
dc.relation.isPartOfCARDIOVASCULAR ULTRASOUND-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleGenetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학교실)-
dc.contributor.googleauthorHyemoon Chung-
dc.contributor.googleauthorYoonjung Kim-
dc.contributor.googleauthorChul-Hwan Park-
dc.contributor.googleauthorJong-Youn Kim-
dc.contributor.googleauthorPil-Ki Min-
dc.contributor.googleauthorYoung Won Yoon-
dc.contributor.googleauthorTae Hoon Kim-
dc.contributor.googleauthorByoung Kwon Lee-
dc.contributor.googleauthorBum-Kee Hong-
dc.contributor.googleauthorSe-Joong Rim-
dc.contributor.googleauthorHyuck Moon Kwon-
dc.contributor.googleauthorKyung-A Lee-
dc.contributor.googleauthorEui-Young Choi-
dc.identifier.doi10.1186/s12947-019-0171-1-
dc.contributor.localIdA00260-
dc.contributor.localIdA00926-
dc.contributor.localIdA00926-
dc.contributor.localIdA01086-
dc.contributor.localIdA01086-
dc.contributor.localIdA01412-
dc.contributor.localIdA01412-
dc.contributor.localIdA01722-
dc.contributor.localIdA01722-
dc.contributor.localIdA02580-
dc.contributor.localIdA02580-
dc.contributor.localIdA02793-
dc.contributor.localIdA02793-
dc.contributor.localIdA03372-
dc.contributor.localIdA03372-
dc.contributor.localIdA04165-
dc.contributor.localIdA04165-
dc.contributor.localIdA04394-
dc.contributor.localIdA04394-
dc.relation.journalcodeJ00466-
dc.identifier.eissn1476-7120-
dc.identifier.pmid31660989-
dc.subject.keywordGene-
dc.subject.keywordHypertrophic cardiomyopathy-
dc.subject.keywordMitral leaflet-
dc.subject.keywordMitral valve-
dc.contributor.alternativeNameKwon, Hyuck Moon-
dc.contributor.affiliatedAuthor권혁문-
dc.contributor.affiliatedAuthor김종윤-
dc.contributor.affiliatedAuthor김종윤-
dc.contributor.affiliatedAuthor김태훈-
dc.contributor.affiliatedAuthor김태훈-
dc.contributor.affiliatedAuthor민필기-
dc.contributor.affiliatedAuthor민필기-
dc.contributor.affiliatedAuthor박철환-
dc.contributor.affiliatedAuthor박철환-
dc.contributor.affiliatedAuthor윤영원-
dc.contributor.affiliatedAuthor윤영원-
dc.contributor.affiliatedAuthor이병권-
dc.contributor.affiliatedAuthor이병권-
dc.contributor.affiliatedAuthor임세중-
dc.contributor.affiliatedAuthor임세중-
dc.contributor.affiliatedAuthor최의영-
dc.contributor.affiliatedAuthor최의영-
dc.contributor.affiliatedAuthor홍범기-
dc.contributor.affiliatedAuthor홍범기-
dc.citation.volume17-
dc.citation.number1-
dc.citation.startPage21-
dc.identifier.bibliographicCitationCARDIOVASCULAR ULTRASOUND, Vol.17(1) : 21, 2019-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers

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