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Comparison of echocardiographic parameters in Fabry cardiomyopathy and light-chain cardiac amyloidosis

Josef Marek1, Tomas Palecek1, Julien Magne2

  • 12nd Department of Medicine-Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

Echocardiography (Mount Kisco, N.Y.)
|September 25, 2018
PubMed

Insights

Fabry cardiomyopathy and light-chain amyloid cardiomyopathy both cause heart thickening, but light-chain amyloid cardiomyopathy patients show worse diastolic dysfunction. Midwall fractional shortening and E/e

Area of Science:

  • Cardiology
  • Cardiovascular Imaging
  • Cardiac Electrophysiology

Background:

  • Fabry cardiomyopathy (FC) and light-chain amyloid cardiomyopathy (AL) are infiltrative cardiomyopathies characterized by concentric left ventricular (LV) hypertrophy and diastolic dysfunction.
  • Direct comparison of these conditions is challenging due to their rarity and the variability in LV thickness.
  • Both FC and AL can present with similar echocardiographic features, necessitating detailed analysis for accurate differentiation and management.

Purpose of the Study:

  • To compare left ventricular (LV) diastolic and systolic properties between patients with Fabry cardiomyopathy (FC) and light-chain amyloid cardiomyopathy (AL).
  • To analyze these properties in a cohort specifically matched for interventricular septal thickness (IVS) to mitigate confounding factors.
  • To identify echocardiographic parameters that correlate with heart failure severity in both FC and AL.

Main Methods:

  • A retrospective, two-center echocardiographic analysis was conducted.
  • The study included 118 patients with an interventricular septal thickness (IVS) ≥12 mm, comprising 59 patients with FC and 59 patients with AL, matched for IVS.
  • Key echocardiographic parameters including LV dimensions, ejection fraction (EF), midwall fractional shortening (midFS), and E/e' ratio were assessed.

Main Results:

  • Patients with Fabry cardiomyopathy (FC) exhibited larger LV end-diastolic diameter and better LV ejection fraction (EF) and midwall fractional shortening (midFS) compared to matched light-chain amyloid cardiomyopathy (AL) patients.
  • Light-chain amyloid cardiomyopathy (AL) patients demonstrated significantly higher grades of LV diastolic dysfunction and a higher E/e' ratio.
  • Significant LV systolic dysfunction (EF <40%) was infrequent in both groups, while both midFS and E/e' were associated with NYHA heart failure severity.

Conclusions:

  • Matched light-chain amyloid cardiomyopathy (AL) patients exhibit worse left ventricular (LV) diastolic function compared to Fabry cardiomyopathy (FC) patients, primarily driven by the E/e' ratio.
  • Significant LV systolic dysfunction is rare in both FC and AL when matched for interventricular septal thickness.
  • Midwall fractional shortening (midFS) and E/e' are valuable echocardiographic markers associated with heart failure severity in both FC and AL.
Abstract

Keywords:
Fabry diseasediastolic functionechocardiographyrestrictive cardiomyopathysystolic function

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