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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Protein Biomarkers of Adverse Clinical Features and Events in Sarcomeric Hypertrophic Cardiomyopathy

Usman A Tahir1, Paul Kolm2, Raymond Y Kwong3

  • 1Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, MA (U.A.T., S.D., E.A., G.T., R.E.G.).

Circulation. Heart Failure
|November 5, 2024
PubMed

Insights

Plasma proteomic profiling reveals biomarkers linked to varied hypertrophic cardiomyopathy (HCM) severity. These findings offer insights into HCM

Area of Science:

  • Cardiovascular Medicine
  • Proteomics
  • Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) presents diverse clinical outcomes, from mild impact to severe events like atrial fibrillation, heart failure, and sudden cardiac death.
  • The underlying mechanisms driving this phenotypic heterogeneity in HCM remain poorly understood.
  • Identifying reliable biomarkers is crucial for understanding and managing HCM's varied clinical trajectory.

Purpose of the Study:

  • To investigate plasma proteomic profiles in patients with sarcomeric hypertrophic cardiomyopathy (HCM).
  • To identify circulating protein biomarkers associated with clinical heterogeneity and adverse outcomes in HCM.
  • To explore novel pathways implicated in HCM pathophysiology through proteomic analysis.

Main Methods:

  • Utilized the Olink antibody-based proteomic platform to measure 275 plasma proteins in 701 patients with genotype-positive (sarcomeric) HCM.
  • Assessed associations between protein levels and clinical features, cardiac magnetic resonance imaging (CMR) metrics, and incident atrial fibrillation.
  • Correlated protein levels with established risk scores and imaging markers like late gadolinium enhancement (LGE).

Main Results:

  • Late gadolinium enhancement (LGE) showed associations with proteins involved in neurohormonal activation, including NT-proBNP and ACE2.
  • Left ventricular remodeling metrics were novelly linked to proteins in vascular development and homeostasis, such as VEGF-D and TM.
  • Incident atrial fibrillation was associated with inflammatory and fibrotic mediators, specifically MMP2 and SPON1.
  • The European Society of Cardiology sudden cardiac death risk score was inversely associated with stem cell factor (SCF).

Conclusions:

  • Plasma proteomic profiling in sarcomeric HCM identified biomarkers correlated with adverse imaging and clinical phenotypes.
  • Circulating proteins identified relate to known pathways (neurohormonal activation, fibrosis) and less characterized ones (endothelial function, inflammation) in HCM.
  • These findings underscore the utility of plasma profiling for discovering risk biomarkers and advancing the understanding of HCM pathophysiology.
Abstract

Keywords:
biomarkerscardiomyopathy, hypertrophiccoronary artery diseaseheart failureproteomics

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