Fatty acid beta-oxidation deficiency masquerading as fulminant myocarditis.
We present a 9-month-old child presenting with acute cardiomyopathy and fever following a viral illness. He was diagnosed to have acute myocarditis, was proposed for an external hemodynamic assistance but died of ventricular tachycardia. Post-mortem data revealed a very-long-chain acylcoenzyme A dehydrogenase deficiency. Our report raises awareness on the interest for preserving tissue samples and for performing a metabolic screening in acute childhood cardiomyopathy.
de Lonlay-Debeney
P
P
Service de Génétique Médicale et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Fournet
J C
JC
Bonnet
D
D
D042964:Acyl-CoA Dehydrogenase; D017809:Fatal Outcome; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications* / Q000473:pathology / Q000652:urine; D009205:Myocarditis / Q000209:etiology* / Q000378:metabolism; D009206:Myocardium / Q000473:pathology
D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase