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(Circulation. 1999;100:2248.)
© 1999 American Heart Association, Inc.

Clinical Investigation and Reports

Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

Damien Bonnet, MD; Delphine Martin, MD; Pascale de Lonlay, MD; Elizabeth Villain, MD; Philippe Jouvet, MD; Daniel Rabier, MD; Michèle Brivet, MD; Jean-Marie Saudubray, MD

From the Service de Cardiologie Pédiatrique (D.B., E.V.), Service de Génétique et Maladies Métaboliques de l’Enfant (D.M., P.d.L., J.-M.S.), and Réanimation Pédiatrique (P.J.), Fédération de Pédiatrie, and the Département de Biochimie (D.R.), Hôpital Necker-Enfants Malades, Paris; and the Département de Biochimie (M.B.), Hôpital du Kremlin-Bicêtre, Kremlin-Bicêtre, France

Correspondence to Dr Damien Bonnet, Service de Cardiologie Pédiatrique, 149 Rue de Sèvres, 75015 Paris, France. E-mail damien.bonnet{at}nck.ap-hop-paris.fr

Background—The clinical manifestations of inherited disorders of fatty acid oxidation vary according to the enzymatic defect. They may present as isolated cardiomyopathy, sudden death, progressive skeletal myopathy, or hepatic failure. Arrhythmia is an unusual presenting symptom of fatty acid oxidation deficiencies.

Methods and Results—Over a period of 25 years, 107 patients were diagnosed with an inherited fatty acid oxidation disorder. Arrhythmia was the predominant presenting symptom in 24 cases. These 24 cases included 15 ventricular tachycardias, 4 atrial tachycardias, 4 sinus node dysfunctions with episodes of atrial tachycardia, 6 atrioventricular blocks, and 4 left bundle-branch blocks in newborn infants. Conduction disorders and atrial tachycardias were observed in patients with defects of long-chain fatty acid transport across the inner mitochondrial membrane (carnitine palmitoyl transferase type II deficiency and carnitine acylcarnitine translocase deficiency) and in patients with trifunctional protein deficiency. Ventricular tachycardias were observed in patients with any type of fatty acid oxidation deficiency. Arrhythmias were absent in patients with primary carnitine carrier, carnitine palmitoyl transferase I, and medium chain acyl coenzyme A dehydrogenase deficiencies.

Conclusions—The accumulation of arrhythmogenic intermediary metabolites of fatty acids, such as long-chain acylcarnitines, may be responsible for arrhythmias. Inborn errors of fatty acid oxidation should be considered in unexplained sudden death or near-miss in infants and in infants with conduction defects or ventricular tachycardia. Diagnosis can be easily ascertained by an acylcarnitine profile from blood spots on filter paper.

Key Words: metabolism • arrhythmia • fatty acids

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