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[A cause of dilated cardiomyopathy in a child: primary carnitine deficiency]

S Baragou1, M Pio1, S Di Bernardo2

  • 1Service de cardiologie, CHU Campus, BP 20773, Lomé, Togo.

Annales De Cardiologie Et D'Angeiologie
|January 21, 2012
PubMed

Insights

Carnitine deficiency can cause dilated cardiomyopathy in children. Early diagnosis and lifelong oral carnitine treatment lead to symptom resolution and normalized heart function, highlighting the importance of metabolic screening.

Area of Science:

  • Pediatric Cardiology
  • Metabolic Disorders
  • Genetics

Background:

  • Dilated cardiomyopathy in children necessitates investigating metabolic causes.
  • Primary carnitine deficiency is a rare but significant etiological factor.

Observation:

  • A 3-year-old child presented with hypotonia, dyspnea, and cardiomegaly.
  • Echocardiography revealed a dilated left ventricle with reduced ejection fraction (0.43).
  • Low plasma free and total carnitine levels were detected, confirmed as primary systemic carnitine deficiency by genetic analysis.

Findings:

  • Treatment with oral carnitine (200mg/kg/day) rapidly improved clinical symptoms.
  • Cardiac function normalized within three weeks, with ejection fraction increasing to 0.62.
  • Genetic mutation analysis of SLC22A5 confirmed the diagnosis.

Implications:

  • Primary carnitine deficiency should be systematically suspected in pediatric cardiomyopathy.
  • Lifelong oral carnitine supplementation is a simple and effective treatment.
  • Early diagnosis and treatment offer an excellent prognosis for affected children.
Abstract

Keywords:
CardiomyopathieCardiomyopathyCarnitineFatty acid oxydationOxydation des acides gras

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