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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hypertrophic Cardiomyopathy in the Absence of "Hypertrophy": A Precision Medicine Reappraisal

Julian Vega-Adauy1, Jesús Urbina2

  • 1Cardiovascular Diseases Division, Clinica Alemana Santiago, Chile; Clinica BUPA Santiago, Chile; Cardiac Imaging Program, Complejo Asistencial Dr Sotero del Rio, Santiago, Chile; Chilean Institute of Cardiac Imaging (INCIC), Santiago 8320000, Chile.

Heart Failure Clinics
|October 13, 2025
PubMed

Insights

Traditional hypertrophic cardiomyopathy (HCM) diagnosis misses subtle cases. A precision medicine approach using cardiac MRI and individualized metrics improves early detection and care for diverse HCM patients.

Area of Science:

  • Cardiology
  • Medical Imaging
  • Genetics

Background:

  • Current hypertrophic cardiomyopathy (HCM) diagnosis relies on fixed wall thickness criteria.
  • These criteria may fail to identify early, subtle, or segmental HCM, particularly in specific demographics like women or those with apical variants.
  • This diagnostic rigidity can lead to delayed recognition and suboptimal patient management.

Purpose of the Study:

  • To examine the limitations of absolute diagnostic thresholds in hypertrophic cardiomyopathy (HCM).
  • To advocate for a precision medicine framework for HCM diagnosis.
  • To improve the early recognition and management of the heterogeneous spectrum of HCM.

Main Methods:

  • Review of current diagnostic criteria for hypertrophic cardiomyopathy (HCM).
  • Discussion of the role of cardiac magnetic resonance imaging (CMR) in HCM assessment.
  • Integration of individualized metrics and architectural markers for enhanced diagnostic accuracy.

Main Results:

  • Fixed diagnostic thresholds for HCM can lead to underdiagnosis of subthreshold phenotypes.
  • Cardiac MRI, combined with personalized metrics, offers superior accuracy in identifying HCM.
  • This approach can detect nonclassical presentations and facilitate earlier disease recognition.

Conclusions:

  • Absolute diagnostic cutoffs for HCM are insufficient for comprehensive diagnosis.
  • A precision medicine approach integrating advanced imaging and individualized markers is crucial.
  • Enhanced diagnostic strategies will improve care for the diverse population of HCM patients.

Keywords:
Apical hypertrophic cardiomyopathyCardiac magnetic resonance imagingHypertrophic cardiomyopathyLeft ventricular hypertrophyPrecision medicine

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