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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy

Lanlan Zhang1, Yanmin Zhang2, Jing Wang3

  • 1Department of Cell Biology, School of Life Sciences, Northwest University, Xi'an, Shanxi 710000, China; Department of Ultrasound, Xijing Hypertrophic Cardiomyopathy Center, Xijing Hospital, Fourth Military Medical University, Xi'an, Shanxi 710000, China.

Current Problems in Cardiology
|October 31, 2023
PubMed

Insights

This study identifies the MYH7-R143Q variant in 2.54% of hypertrophic cardiomyopathy (HCM) patients. This genetic factor is linked to moderate hypertrophy, specific fibrosis patterns, and a moderate risk of sudden cardiac death (SCD).

Area of Science:

  • Cardiovascular Genetics
  • Inherited Cardiac Diseases
  • Molecular Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition with frequent familial aggregation.
  • Limited pedigree data hinders comprehensive analysis of clinical characteristics in HCM.
  • Understanding genetic variants is crucial for diagnosing and managing inherited cardiomyopathies.

Purpose of the Study:

  • To investigate the clinical phenotypes and genetic characteristics of the MYH7-R143Q variant in hypertrophic cardiomyopathy (HCM) patients.
  • To provide a theoretical basis for genetic counseling in clinical practice concerning the MYH7-R143Q variant.
  • To analyze clinical data from a large cohort of unrelated HCM probands carrying the MYH7-R143Q variant.

Main Methods:

  • Collected clinical data from 1023 unrelated HCM probands.
  • Conducted Sanger sequencing to detect the MYH7-R143Q variant.
  • Analyzed clinical characteristics, including age at diagnosis, hypertrophy, fibrosis patterns, and risk of sudden cardiac death (SCD).

Main Results:

  • The MYH7-R143Q variant was detected in 2.54% (26/1023) of HCM probands.
  • Patients with the MYH7-R143Q variant were typically diagnosed between 31-40 years old.
  • Observed moderate hypertrophy and fibrosis, primarily in the anterior and inferior septum, indicating a moderate risk of SCD.
  • Identified genetic characteristics including incomplete penetrance, autosomal dominant inheritance, and polygenic cumulative effects.

Conclusions:

  • The MYH7-R143Q variant is a significant genetic factor in HCM, associated with specific clinical and pathological features.
  • This study provides the first investigation into clinical phenotypes across multiple families with the MYH7-R143Q variant.
  • Findings support the need for genetic counseling and personalized risk assessment for HCM patients carrying this variant.

Keywords:
Clinical phenotypeGenetic characteristicsHypertrophic cardiomyopathyMYH7-R143Q

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