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Cardiac involvement in children with inborn errors of metabolism: a single-centre cohort study

Sena Türk1, Çiğdem Seher Kasapkara2, Ayse Esin Kibar3

  • 1Department of Paediatrics, https://ror.org/05ryemn72Ankara City Hospital Children's Hospital, Türkiye.

Cardiology in the Young
|May 29, 2026
PubMed

Insights

Cardiac involvement is common in children with inborn errors of metabolism (IEMs). Lysosomal storage diseases pose the highest risk, especially for valvular issues in older children, necessitating routine cardiac screening.

Area of Science:

  • Pediatric Cardiology
  • Metabolic Disorders
  • Genetics

Background:

  • Inborn errors of metabolism (IEMs) can affect multiple organ systems, including the heart.
  • Cardiac complications in pediatric IEM patients are not fully characterized.
  • Understanding cardiac involvement is crucial for timely intervention and improved outcomes.

Purpose of the Study:

  • To determine the prevalence and types of cardiac involvement in children with IEMs.
  • To assess clinical characteristics associated with cardiac issues in this cohort.
  • To identify specific IEMs with higher cardiac risks.

Main Methods:

  • Retrospective review of 306 pediatric patients (0-18 years) with IEMs undergoing cardiac evaluation.
  • Cardiac assessment included electrocardiography and transthoracic echocardiography.
  • Analysis of associations between IEM diagnostic groups, age, and cardiac involvement.

Main Results:

  • Cardiac involvement was identified in 34.3% of patients.
  • Lysosomal storage diseases (LSDs) showed the highest prevalence of cardiac involvement (61.4%), particularly valvular disease (56.6%).
  • Valvular pathologies were present in 25.2% of all patients; valvular involvement increased in patients >6 years.

Conclusions:

  • Cardiac involvement is a frequent complication in pediatric IEMs, occurring across all age groups.
  • LSDs present a significant risk for cardiac complications, especially valvular disease in older children.
  • Routine cardiological evaluation and multidisciplinary care are vital for optimizing prognosis in pediatric IEM patients.
Abstract

Keywords:
Arrhythmiacardiomyopathyinborn errors of metabolismpaediatric cardiologyvalve dysfunction

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