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Loss of base-to-apex circumferential strain gradient: A specific pattern of Fabry cardiomyopathy?

Fabien Labombarda1, Eric Saloux1, Guillaume Milesi1

  • 1Department of Cardiology, Caen CHU, Caen, France.

Echocardiography (Mount Kisco, N.Y.)
|March 4, 2017
PubMed

Insights

Circumferential strain (CS) gradient loss is a specific pattern in Fabry cardiomyopathy, helping differentiate it from hypertrophic cardiomyopathy (HCM). This finding aids in diagnosing Fabry disease, even without left ventricular hypertrophy (LVH).

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Fabry disease commonly causes left ventricular hypertrophy (LVH).
  • Distinguishing Fabry cardiomyopathy from other hypertrophic conditions like sarcomeric hypertrophic cardiomyopathy (HCM) is clinically important.
  • Regional strain patterns offer potential biomarkers for cardiac conditions.

Purpose of the Study:

  • To characterize regional strain patterns in Fabry disease patients.
  • To determine if these patterns can differentiate Fabry disease from HCM.
  • To investigate the role of base-to-apex strain gradients in Fabry cardiomyopathy.

Main Methods:

  • Investigated 77 subjects: 37 Fabry patients, 21 HCM patients, and 19 healthy controls.
  • Utilized 2D speckle strain imaging for global and segmental longitudinal and circumferential strain (CS) analysis.
  • Calculated base-to-apex longitudinal and CS gradients.

Main Results:

  • Longitudinal strain gradients did not significantly differ between groups.
  • Circumferential strain (CS) gradients were lower in Fabry patients (with and without LVH) compared to controls and HCM patients, respectively.
  • Base-to-apex CS gradient was lost in both Fabry patient groups, irrespective of LVH presence.

Conclusions:

  • Loss of the base-to-apex CS gradient appears to be a specific deformation pattern in Fabry cardiomyopathy.
  • This finding may serve as a diagnostic marker to differentiate Fabry cardiomyopathy from HCM.
  • The CS gradient pattern is valuable even in Fabry patients without overt left ventricular hypertrophy.
Abstract

Keywords:
Fabry diseasecircumferential strainhypertrophic cardiomyopathy

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