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Updated: Jul 4, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy

Onur Akhan1, Mehmet Kış2, Tuncay Güzel3

  • 1Bilecik Training and Research Hospital - Cardiology, Bilecik - Turquia.

Arquivos Brasileiros De Cardiologia
|February 7, 2024
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are genetic conditions causing left ventricular hypertrophy (LVH). Specific biochemical, ECG, and echocardiographic findings can help differentiate between HCM and FD for earlier diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are inherited conditions characterized by left ventricular hypertrophy (LVH).
  • Both HCM and FD can lead to adverse cardiac outcomes.
  • Differentiating between HCM and FD is crucial for appropriate management.

Purpose of the Study:

  • To compare demographic, clinical, biochemical, electrocardiographic (ECG), and echocardiographic (ECHO) features of HCM and FD patients.
  • To identify distinguishing characteristics between these two conditions.

Main Methods:

  • Retrospective analysis of 60 HCM and 40 FD patients.
  • Exclusion of patients with arrhythmias or conduction blocks.
  • Univariate and multivariate statistical analyses were performed.

Main Results:

  • Male gender and creatinine levels were higher in FD patients.
  • HCM patients showed increased ST depression, QT duration, interventricular septum thickness (IVSd), posterior wall thickness (PWd), moderate-severe mitral regurgitation (MR), and LV mass index (LVMI).
  • Multivariate analysis confirmed creatinine and QT duration as significant differentiators.

Conclusions:

  • Distinct biochemical, ECG, and ECHO findings can differentiate between HCM and FD.
  • Early identification of these differentiating characteristics is key for diagnosis and management.
Abstract

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