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Updated: Nov 6, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

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Clinical prediction of genotypes in hypertrophic cardiomyopathy: A systematic review

Amir Aziz1, Szymon K Musiol2, William E Moody3

  • 1Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, AB, Canada.

European Journal of Clinical Investigation
|May 5, 2021
PubMed

Insights

Identifying clinical predictors for hypertrophic cardiomyopathy (HCM) genetic testing can improve diagnostic efficiency. Younger age, family history, and specific cardiac features predict informative genetic results, aiding clinical decisions.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition and a leading cause of sudden cardiac death (SCD) in young adults.
  • Genetic testing is crucial for HCM diagnosis, but its correlation with clinical presentation is complex.
  • Identifying predictors for informative genetic testing can enhance cost-effectiveness and streamline patient care.

Purpose of the Study:

  • To review the current literature on clinical predictors of informative genetic testing in hypertrophic cardiomyopathy.
  • To identify factors associated with a higher likelihood of a positive genetic test for HCM.

Main Methods:

  • A systematic review of five literature databases was conducted.
  • Studies correlating clinical and radiological parameters with positive genetic test results for HCM were included.

Main Results:

  • Twenty-nine observational studies involving 9,486 patients were analyzed.
  • Key predictors of informative genetic testing included younger age, increased septal thickness, reverse septal curvature, family history of HCM/SCD, and absence of hypertension.
  • The Mayo and Toronto scores are validated scoring systems, with novel imaging markers and algorithmic models emerging as potential predictors.

Conclusions:

  • Utilizing clinical predictors to guide genetic testing in HCM is a potential alternative to universal testing.
  • Current evidence is insufficient to definitively recommend this strategy.
  • Further validation of existing predictors and discovery of new ones are necessary research areas.
Abstract

Keywords:
genotypehypertrophic cardiomyopathy

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