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Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

D Holmgren1, H Wåhlander, B O Eriksson

  • 1Division of Pediatric Cardiology, The Queen Silvia Children's Hospital, Göteborg, Sweden. daniel.holmgren@vgregion.se

European Heart Journal
|February 20, 2003
PubMed

Insights

Cardiomyopathy is common in children with mitochondrial disease, affecting 17% of cases. This condition significantly increases mortality, especially in those with cytochrome-c oxidase deficiency.

Area of Science:

  • Pediatric Cardiology
  • Mitochondrial Diseases
  • Genetics

Background:

  • Mitochondrial diseases are a group of inherited metabolic disorders affecting cellular energy production.
  • Cardiomyopathy, a disease of the heart muscle, can be a serious complication in children with mitochondrial disorders.
  • Understanding the frequency and clinical course of cardiomyopathy in this population is crucial for prognosis and management.

Purpose of the Study:

  • To determine the incidence of cardiomyopathy in pediatric patients diagnosed with mitochondrial disease.
  • To describe the clinical characteristics, cardiac manifestations, and outcomes of cardiomyopathy in this cohort.
  • To identify specific genetic defects associated with cardiomyopathy and assess their impact on prognosis.

Main Methods:

  • Retrospective analysis of 301 children with central nervous system and neuromuscular diseases.
  • Identification of 101 children with confirmed mitochondrial disease.
  • Echocardiographic and Doppler investigations to diagnose and characterize cardiomyopathy, including left ventricular measurements and function.

Main Results:

  • Cardiomyopathy was diagnosed in 17% (17 out of 101) of children with mitochondrial disease.
  • All identified cases were hypertrophic, non-obstructive cardiomyopathy.
  • Mortality was significantly higher in children with cardiomyopathy (71%) compared to those without (26%), particularly in cases of cytochrome-c oxidase deficiency.

Conclusions:

  • Cardiomyopathy is a frequent and serious complication in children with mitochondrial disease, associated with a poor prognosis.
  • Children with cytochrome-c oxidase deficiency and cardiomyopathy face a particularly unfavorable outlook.
  • Early cardiac evaluation and monitoring are essential for children diagnosed with mitochondrial disorders.
Abstract

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