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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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MYH6 Variants Are Associated with Atrial Dysfunction in Neonates with Hypoplastic Left Heart Syndrome.

Melissa Quintanilla Anfinson1, Sara Creighton2, Pippa M Simpson3

  • 1Department of Surgery, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Genes
|November 27, 2024
PubMed
Summary

MYH6 gene variants, a risk factor for hypoplastic left heart syndrome (HLHS), impair right atrial (RA) contractility and function. This RA dysfunction may contribute to RV failure and worse outcomes in HLHS patients with MYH6 variants.

Keywords:
MYH6atrial straincongenital heart diseasehypoplastic left heart syndromespeckle-tracking echocardiography

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Area of Science:

  • Cardiology
  • Genetics
  • Echocardiography

Background:

  • MYH6 variants are a significant genetic risk factor for hypoplastic left heart syndrome (HLHS), impacting cardiac transplant-free survival.
  • MYH6 encodes alpha-myosin heavy chain (α-MHC), a key contractile protein in neonatal heart atria.

Purpose of the Study:

  • To assess atrial function in HLHS patients carrying MYH6 variants.
  • To investigate the functional consequences of MYH6 variants on cardiac performance in HLHS.

Main Methods:

  • Retrospective, blinded analysis of pre-stage I atrial function using 2D speckle-tracking echocardiography (2D-STE).
  • Measurement of right atrial (RA) and right ventricular (RV) strain and strain rate (SR).
  • Control-matching of variant carriers based on AV valve anatomy, sex, and birth year.

Main Results:

  • HLHS patients with MYH6 variants showed significantly decreased RA active strain (ASct) compared to controls.
  • No significant differences in RV strain were observed between MYH6 variant carriers and controls.
  • RA reservoir (ASr) and conduit strain (AScd) correlated with heart rate (HR) in variant carriers, while RV function correlated with HR in controls.

Conclusions:

  • MYH6 variants are associated with impaired RA contractility, reservoir, and conduit function in HLHS patients.
  • Despite preserved RV function, RA dysfunction and reduced atrial 'kick' may contribute to RV failure and adverse outcomes in these patients.