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Echocardiographic and Histological Examination of Cardiac Morphology in the Mouse
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Echocardiographic features of Fabry cardiomyopathy-Comparison with hypertrophy-matched sarcomeric hypertrophic

Sebastian Militaru1,2,3, Ruxandra Jurcuț1,2, Robert Adam1,2

  • 1Department of Cardiology, Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute of Cardiovascular Diseases "Prof. Dr. C. C. Iliescu", Bucharest, Romania.

Echocardiography (Mount Kisco, N.Y.)
|October 30, 2019
PubMed

Insights

Echocardiography can differentiate Fabry cardiomyopathy from sarcomeric hypertrophic cardiomyopathy (HCM). Key differences include lower ejection fraction and altered strain patterns in Fabry disease, aiding early diagnosis.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Early diagnosis of cardiomyopathies like Fabry disease is crucial for treatment.
  • Echocardiographic "red flags" aid in etiologic diagnosis.
  • Differentiating Fabry cardiomyopathy from sarcomeric hypertrophic cardiomyopathy (HCM) is clinically important.

Purpose of the Study:

  • To identify echocardiographic features distinguishing Fabry cardiomyopathy from sarcomeric HCM.
  • To assess the utility of ventricular strain analysis in this differentiation.

Main Methods:

  • Prospective study of 40 patients with left ventricular (LV) hypertrophy.
  • Two groups: 20 Fabry disease patients and 20 sarcomeric HCM patients.
  • Matched for LV hypertrophy and age; included full echocardiography and strain analysis.

Main Results:

  • Fabry group showed lower LV ejection fraction and larger LV end-systolic diameter.
  • Fabry patients had more concentric hypertrophy and a lower interventricular septum/posterior wall ratio.
  • Reduced inferolateral and RV free wall longitudinal strain observed in Fabry patients.

Conclusions:

  • Specific echocardiographic parameters can differentiate Fabry cardiomyopathy from HCM.
  • These findings may facilitate earlier detection and management of Fabry disease.
Abstract

Keywords:
echocardiographyfabry diseasehypertrophic cardiomyopathyspeckle trackingtissue Doppler

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