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The genetics of hypertrophic cardiomyopathy

Mohammed Akhtar1, Perry Elliott1

  • 1Bart's Heart Centre, St Bartholomew's Hospital, London & University College London.

Global Cardiology Science & Practice
|November 6, 2018
PubMed

Insights

Genetic testing for hypertrophic cardiomyopathy (HCM) aids in identifying at-risk relatives and diagnosing other conditions. Future applications include disease stratification and targeted therapies for HCM.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
  • Autosomal dominant inheritance due to sarcomere protein gene mutations is common.
  • Other genetic factors involve calcium handling and cytoskeleton proteins.

Purpose of the Study:

  • To review the current and emerging roles of genetic testing in HCM.
  • To highlight the utility of genetic testing for familial screening and diagnosis of genocopies.
  • To discuss the future potential of genetic information in disease management.

Main Methods:

  • Literature review of genetic testing applications in HCM.
  • Analysis of current clinical guidelines and emerging research.
  • Synthesis of data on genetic basis, diagnosis, and therapeutic implications.

Main Results:

  • Genetic testing is crucial for identifying at-risk individuals in HCM families.
  • It aids in differentiating HCM from other genetic disorders (genocopies) with distinct prognoses.
  • Current prognostic predictive value is limited, but evolving.

Conclusions:

  • Genetic testing is essential for HCM diagnosis and family screening.
  • Emerging data indicate a growing role in disease stratification.
  • Genetic insights are paving the way for future disease-modifying therapies.

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