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Genetics of hypertrophic cardiomyopathy: A review of current state

M Sabater-Molina1,2, I Pérez-Sánchez1, J P Hernández Del Rincón2,3

  • 1Inherited Cardiac Disease Unit, University Hospital Virgen Arrixaca, Murcia, Spain.

Clinical Genetics
|April 4, 2017
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease caused by sarcomere gene mutations. Genetic testing offers prognostic value and aids in developing future therapies for this complex condition.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiovascular disorder.
  • It presents with significant heterogeneity in phenotype, symptom severity, and risk of complications like heart failure and sudden cardiac death.
  • HCM is recognized as a sarcomere disease, with mutations in sarcomere protein genes accounting for a majority of cases.

Purpose of the Study:

  • To review the genetic basis of HCM, including associated mutations and their impact.
  • To discuss the challenges in variant interpretation and the importance of genotype-phenotype correlations.
  • To explore the role of genetic testing in prognosis and the potential for genetic and environmental modifiers in therapy development.

Main Methods:

  • Literature review of genetic studies in Hypertrophic Cardiomyopathy.
  • Analysis of genotype-phenotype correlations and modifier effects.
  • Evaluation of current in silico tools for variant classification.

Main Results:

  • Sixty percent of HCM cases involve mutations in sarcomere protein genes, notably MYBPC3 and MYH7.
  • Incomplete penetrance and age/gender dependency characterize HCM.
  • Emerging insights from miRNA studies suggest potential biomarkers and therapeutic targets.

Conclusions:

  • Genetic testing provides significant prognostic value in HCM.
  • Understanding genotype-phenotype correlations is crucial for elucidating disease mechanisms.
  • Advances in genetic knowledge and functional studies are paving the way for novel therapeutic strategies for HCM.

Keywords:
cardiomyopathygeneticshypertrophysudden death

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