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Pediatric Cardiology

, Volume 29, Issue 2, pp 446–451 | Cite as

Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency

A Clinico-Pathological Correlation and Review of Literature
  • Mohit Singla
  • Grace Guzman
  • Andrew J. Griffin
  • Saroja Bharati
Case Report

Abstract

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.

Keywords

Multiple acyl-CoA dehydrogenase deficiency Cardiomyopathy Glutaric acidemia Type II 

Notes

Acknowledgments

We express our sincere thanks to Sunita J. Ferns and Kristina Borgen for helping us in the echocardiogram and microscopy of the heart, respectively. We also thank the family of the patient for consenting to publish this report.

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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Mohit Singla
    • 1
  • Grace Guzman
    • 2
  • Andrew J. Griffin
    • 3
  • Saroja Bharati
    • 2
    • 4
    • 5
  1. 1.Department of PediatricsUniversity of Illinois–College of MedicineChicagoUSA
  2. 2.Department of PathologyUniversity of Illinois–College of MedicineChicagoUSA
  3. 3.Division of Pediatric CardiologyUniversity of Illinois–College of MedicineChicagoUSA
  4. 4.Maurice Lev Congenital Heart and Conduction System Center, Advocate Hope Children’s Hospital, Advocate Christ Medical CenterOak LawnUSA
  5. 5.Chicago Medical School and Rush–Presbyterian St. Luke’s Medical CenterChicagoUSA

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