Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

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 deficie...

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Bibliographic Details
Published in:Circulation (New York, N.Y.) N.Y.), 1999-11, Vol.100 (22), p.2248-2253
Main Authors: BONNET, D, MARTIN, D, DE LONLAY, P, VILLAIN, E, JOUVET, P, RABIER, D, BRIVET, M, SAUDUBRAY, J.-M
Format: Article
Language:English
Subjects:
3-Hydroxyacyl CoA Dehydrogenases - deficiency
3-Hydroxyacyl CoA Dehydrogenases - genetics
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenase, Long-Chain
Arrhythmias, Cardiac - etiology
Biological and medical sciences
Cardiac dysrhythmias
Cardiology. Vascular system
Carnitine - analogs & derivatives
Carnitine - blood
Carnitine Acyltransferases - deficiency
Carnitine Acyltransferases - genetics
Carnitine O-Palmitoyltransferase - deficiency
Carnitine O-Palmitoyltransferase - genetics
Fatty Acid Desaturases - deficiency
Fatty Acid Desaturases - genetics
Fatty Acids - metabolism
Female
Heart
Heart Conduction System - physiopathology
Humans
Infant
Infant, Newborn
Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
Male
Medical sciences
Mitochondria, Heart - metabolism
Mitochondrial Myopathies - complications
Mitochondrial Myopathies - diagnosis
Mitochondrial Myopathies - genetics
Mitochondrial Myopathies - physiopathology
Models, Biological
Oxidation-Reduction
Sudden Infant Death - etiology
Tachycardia, Ventricular - etiology
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Summary: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. 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. 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.
ISSN:0009-7322
1524-4539
DOI:10.1161/01.cir.100.22.2248