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Friedreich's ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study

Gabrielle Norrish1,2, Thomas Rance1, Elena Montanes1

  • 1Centre for Inherited Cardiovascular Disease, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.

Archives of Disease in Childhood
|October 6, 2021
PubMed

Insights

Hypertrophic cardiomyopathy in Friedreich's ataxia (FA-HCM) in children shows high rates of arrhythmias and systolic dysfunction, indicating early disease progression. However, overall mortality is similar to non-syndromic HCM, with no sudden cardiac deaths observed.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant predictor of outcomes in Friedreich's ataxia (FA).
  • The clinical spectrum and survival of FA-HCM in childhood are not well-documented.
  • Understanding childhood FA-HCM is crucial for early diagnosis and management.

Purpose of the Study:

  • To describe the clinical characteristics of children diagnosed with Friedreich's ataxia and hypertrophic cardiomyopathy (FA-HCM).
  • To analyze the prevalence, progression, and survival rates of FA-HCM in a pediatric cohort.
  • To compare outcomes of childhood FA-HCM with non-syndromic HCM.

Main Methods:

  • Retrospective, longitudinal cohort study of 78 children (<18 years) with FA-HCM in the UK.
  • Data collected included demographic and clinical information from baseline and follow-up.
  • Primary endpoint was all-cause mortality or cardiac transplantation.

Main Results:

  • The mean age of FA-HCM diagnosis was 10.9 years.
  • At baseline, 90.3% had left ventricular hypertrophy and 12.5% had systolic impairment.
  • Over a median follow-up of 5.1 years, 10.5% died, with no sudden cardiac deaths; 10-year freedom from death or transplantation was 80.8%.

Conclusions:

  • This study represents the largest cohort of childhood FA-HCM to date.
  • High prevalence of atrial arrhythmias and impaired systolic function suggests early progression to end-stage disease.
  • Childhood FA-HCM has similar overall mortality to non-syndromic HCM, but without sudden cardiac deaths.
Abstract

Keywords:
cardiologyneurologypaediatrics

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