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Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

 Hyemoon Chung  ;  Yoonjung Kim  ;  Chul-Hwan Park  ;  Jong-Youn Kim  ;  Pil-Ki Min  ;  Young Won Yoon  ;  Tae Hoon Kim  ;  Byoung Kwon Lee  ;  Bum-Kee Hong  ;  Se-Joong Rim  ;  Hyuck Moon Kwon  ;  Kyung-A Lee  ;  Eui-Young Choi 
Journal Title
Issue Date
Gene ; Hypertrophic cardiomyopathy ; Mitral leaflet ; Mitral valve
BACKGROUND: 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.
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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
Yonsei Authors
Kwon, Hyuck Moon(권혁문) ORCID logo https://orcid.org/0000-0001-9901-5015
Kim, Yoon Jung(김윤정) ORCID logo https://orcid.org/0000-0002-4370-4265
Kim, Jong Youn(김종윤) ORCID logo https://orcid.org/0000-0001-7040-8771
Kim, Tae Hoon(김태훈) ORCID logo https://orcid.org/0000-0003-3598-2529
Min, Pil Ki(민필기) ORCID logo https://orcid.org/0000-0001-7033-7651
Park, Chul Hwan(박철환) ORCID logo https://orcid.org/0000-0002-0004-9475
Yoon, Young Won(윤영원) ORCID logo https://orcid.org/0000-0002-0907-0350
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Byoung Kwon(이병권) ORCID logo https://orcid.org/0000-0001-9259-2776
Rim, Se Joong(임세중) ORCID logo https://orcid.org/0000-0002-7631-5581
Choi, Eui Young(최의영) ORCID logo https://orcid.org/0000-0003-3732-0190
Hong, Bum Kee(홍범기) ORCID logo https://orcid.org/0000-0002-6456-0184
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