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Updated: Sep 21, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Significance of α-Myosin Heavy Chain (MYH6) Variants in Hypoplastic Left Heart Syndrome and Related Cardiovascular

Melissa Anfinson1,2, Robert H Fitts3, John W Lough1

  • 1Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

Journal of Cardiovascular Development and Disease
|May 27, 2022
PubMed

Insights

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect. Rare MYH6 gene variants are linked to HLHS and impact patient survival, underscoring the need for genetic testing.

Area of Science:

  • Cardiology
  • Genetics
  • Developmental Biology

Background:

  • Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with complex genetic underpinnings.
  • HLHS often co-occurs with other left ventricular outflow tract (LVOT) malformations, presenting as an isolated condition or part of a broader genetic disorder.
  • The multifactorial cause of HLHS complicates the interpretation of genetic variant significance.

Purpose of the Study:

  • To review identified MYH6 variants associated with HLHS.
  • To discuss the role of bioinformatic and functional studies in interpreting genetic variants for HLHS.
  • To emphasize the importance of genetic testing in managing HLHS patients.

Main Methods:

  • Literature review of MYH6 variants in HLHS.
  • Analysis of bioinformatic and functional study data.
  • Clinical significance assessment of genetic variants.

Main Results:

  • Rare, predicted damaging MYH6 variants are found in over 10% of HLHS patients.
  • MYH6 variants are associated with reduced transplant-free survival in HLHS.
  • MYH6 variants may provide a genetic link between HLHS and other LVOT malformations.

Conclusions:

  • MYH6 variants are significantly implicated in HLHS.
  • Genetic testing and functional studies are crucial for understanding HLHS etiology and patient outcomes.
  • Further research into MYH6 variants can inform clinical decision-making for congenital heart disease.

Keywords:
cardiac myosin heavy chaincongenital heart diseasehypoplastic left heart syndromerare variant analysis

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