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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Article number21
JournalCardiovascular Ultrasound
Volume17
Issue number1
DOIs
Publication statusPublished - 2019 Oct 28

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Hypertrophic Cardiomyopathy
Genes
Mitochondrial DNA
Hypertrophy
Echocardiography
Hemodynamics
Magnetic Resonance Imaging
Phenotype
DNA

All Science Journal Classification (ASJC) codes

  • Radiology Nuclear Medicine and imaging
  • Cardiology and Cardiovascular Medicine

Cite this

Chung, H., Kim, Y., Park, C. H., Kim, J. Y., Min, P. K., Yoon, Y. W., ... Choi, E. Y. (2019). Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy. Cardiovascular Ultrasound, 17(1), [21]. https://doi.org/10.1186/s12947-019-0171-1
Chung, Hyemoon ; Kim, Yoonjung ; Park, Chul Hwan ; Kim, Jong Youn ; Min, Pil Ki ; Yoon, Young Won ; Kim, Tae Hoon ; Lee, Byoung Kwon ; Hong, Bum Kee ; Rim, Se Joong ; Kwon, Hyuck Moon ; Lee, Kyung A. ; Choi, Eui Young. / Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy. In: Cardiovascular Ultrasound. 2019 ; Vol. 17, No. 1.
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abstract = "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.",
author = "Hyemoon Chung and Yoonjung Kim and Park, {Chul Hwan} and Kim, {Jong Youn} and Min, {Pil Ki} and Yoon, {Young Won} and Kim, {Tae Hoon} and Lee, {Byoung Kwon} and Hong, {Bum Kee} and Rim, {Se Joong} and Kwon, {Hyuck Moon} and Lee, {Kyung A.} and Choi, {Eui Young}",
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Chung, H, Kim, Y, Park, CH, Kim, JY, Min, PK, Yoon, YW, Kim, TH, Lee, BK, Hong, BK, Rim, SJ, Kwon, HM, Lee, KA & Choi, EY 2019, 'Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy', Cardiovascular Ultrasound, vol. 17, no. 1, 21. https://doi.org/10.1186/s12947-019-0171-1

Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy. / Chung, Hyemoon; Kim, Yoonjung; Park, Chul Hwan; Kim, Jong Youn; Min, Pil Ki; Yoon, Young Won; Kim, Tae Hoon; Lee, Byoung Kwon; Hong, Bum Kee; Rim, Se Joong; Kwon, Hyuck Moon; Lee, Kyung A.; Choi, Eui Young.

In: Cardiovascular Ultrasound, Vol. 17, No. 1, 21, 28.10.2019.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

AU - Chung, Hyemoon

AU - Kim, Yoonjung

AU - Park, Chul Hwan

AU - Kim, Jong Youn

AU - Min, Pil Ki

AU - Yoon, Young Won

AU - Kim, Tae Hoon

AU - Lee, Byoung Kwon

AU - Hong, Bum Kee

AU - Rim, Se Joong

AU - Kwon, Hyuck Moon

AU - Lee, Kyung A.

AU - Choi, Eui Young

PY - 2019/10/28

Y1 - 2019/10/28

N2 - 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.

AB - 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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