Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature.
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive defect of the electron transfer flavoprotein or ubiquinone oxidoreductase, resulting in abnormal fatty acid, amino acid, and choline metabolism, leading to metabolic acidosis, hypoglycemia, "sweaty-feet" odor, and early neonatal deaths. This report presents a child diagnosed with this disease at birth by newborn screening using the mass spectrometer, who died suddenly at the age of 6 months. The echocardiogram revealed pericardial effusion, thickened ventricular musculature, and insufficiency of both the atrio-ventricular valves. The autopsy showed immense cardiomegaly, fatty infiltration, and hypertrophy of the ventricles. This is the first detailed case report of clinico-pathological correlation of MADD in an infant and brings into light a rare form of cardiomyopathy as a differential diagnosis in critically ill patients.
Singla
Mohit
M
Department of Pediatrics, University of Illinois-College of Medicine, 840 S. Wood St., Chicago, IL 60612, USA.
Guzman
Grace
G
Griffin
Andrew J
AJ
Bharati
Saroja
S
D015415:Biomarkers / Q000378:metabolism; D009202:Cardiomyopathies / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*; D003937:Diagnosis, Differential; D004452:Echocardiography; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D009206:Myocardium / Q000473:pathology*; D013902:Radiography, Thoracic
D015415:Biomarkers