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The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population

Jonathan F Plehn1, Keren Hasbani1, Inez Ernst1

  • 1Translational Medicine Branch, National Heart, Lung and Blood Institute.

Journal of Cardiac Failure
|October 8, 2017
PubMed

Insights

Subclinical cardiomyopathy is common in pediatric Friedreich's ataxia (FA) patients. Concentric hypertrophy (CH) in FA is linked to diastolic and systolic dysfunction, indicating early cardiac issues.

Area of Science:

  • Cardiology
  • Pediatric Neurology
  • Genetics

Background:

  • Friedreich's ataxia (FA) is a rare genetic disorder.
  • Subclinical cardiomyopathy in pediatric FA patients is not well-documented.
  • Early identification of cardiac involvement is crucial for managing FA.

Purpose of the Study:

  • To investigate the prevalence and characteristics of subclinical cardiomyopathy in pediatric FA patients.
  • To assess cardiac structure and function using echocardiography (Echo) and cardiac magnetic resonance imaging (cMRI).
  • To correlate cardiac findings with neurologic impairment in FA.

Main Methods:

  • Cross-sectional analysis of 48 genetically confirmed FA subjects (aged 9-17 years) with moderate neurologic impairment.
  • Echocardiography (Echo) and cardiac magnetic resonance imaging (cMRI) to assess left ventricular mass indexed to height (LVMI).
  • Categorization of left ventricular (LV) remodeling (concentric remodeling, concentric hypertrophy, eccentric hypertrophy) based on LV wall thickness.

Main Results:

  • 85% of subjects showed elevated Echo LVMI, exceeding age-based norms.
  • LVMI correlated with depressed diastolic (E') and systolic (S') tissue Doppler velocities and increased LV filling pressure.
  • Depressed LV relaxation (88%) and increased LV stiffness (71%) were common, despite normal ejection fraction (mean 60%).
  • Concentric remodeling (40%) and concentric hypertrophy (CH) (44%) were prevalent; CH was associated with significant diastolic and systolic dysfunction.

Conclusions:

  • Subclinical hypertrophic cardiomyopathy is a frequent finding in pediatric FA patients.
  • Concentric hypertrophy (CH) in FA is associated with both diastolic and systolic cardiac dysfunction.
  • These findings highlight the need for cardiac monitoring in pediatric FA.
Abstract

Keywords:
Magnetic resonance imagingechocardiographygenetichypertrophy

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