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Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

Hyemoon Chung1, Yoonjung Kim2, Chul-Hwan Park3

  • 1Division of Cardiology, Department of Internal Medicine, Kyung Hee University School of Medicine, 23 Kyung Hee Dae-ro, Seoul, Dongdaemun-gu, 02447, Republic of Korea.

Cardiovascular Ultrasound
|October 30, 2019
PubMed

Insights

Anterior mitral leaflet (AML) elongation is a unique finding in hypertrophic cardiomyopathy (HCM). However, AML size in HCM is primarily linked to heart structure and hypertrophy patterns, not specific genetic factors.

Area of Science:

  • Cardiology
  • Genetics
  • Cardiovascular Imaging

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart disease.
  • The role of mitral leaflet elongation as a primary HCM phenotype remains debated.
  • Investigating genetic relevance and determinants of mitral leaflet size in HCM is crucial.

Purpose of the Study:

  • To determine if anterior mitral leaflet (AML) elongation is a unique phenotype in HCM.
  • To investigate the genetic relevance and determinants of mitral leaflet size in HCM patients.
  • To correlate AML size with cardiac geometry, hemodynamics, and genetic variations.

Main Methods:

  • Echocardiography was used to measure AML lengths in 211 HCM patients and 30 controls.
  • Extensive gene analyses (82 nuclear DNA genes, mitochondrial DNA) were performed.
  • Cardiac magnetic resonance imaging (CMR) assessed chamber geometry and LV mass in 132 HCM patients.

Main Results:

  • Indexed AML length was significantly greater in HCM patients compared to controls (17.2 ± 2.3 vs. 13.3 ± 1.6 mm/m², P < 0.001).
  • AML length correlated with body surface area, LV end-systolic volume, and LV mass.
  • Indexed AML was shorter in pure-apical HCM and independently correlated with left atrial wall stress; no significant differences were found based on sarcomere protein or mitochondria-related gene variants.

Conclusions:

  • AML elongation is a distinct characteristic observed in HCM.
  • Mitral leaflet size in HCM is predominantly influenced by chamber geometry and hypertrophy patterns.
  • Genetic factors did not show a significant direct correlation with AML size within the studied HCM cohort.
Abstract

Keywords:
GeneHypertrophic cardiomyopathyMitral leafletMitral valve

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