Pediatric Cardiology

, Volume 30, Issue 4, pp 523–526 | Cite as

Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase

  • Peter C. DykeII
  • Laura Konczal
  • Dennis Bartholomew
  • Kim L. McBride
  • Timothy M. Hoffman
Case Report


Deficiency of long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase (LCHADD) is a rare inborn error of metabolism. It is associated with hypertrophic cardiomyopathy and less frequently with dilated cardiomyopathy. The incidence and pathophysiology of cardiac involvement in LCHADD is poorly understood. This report describes the acute decompensation of a 3-year-old girl who had LCHADD with rapidly developing dilated cardiomyopathy. A review of the literature and possible causes of cardiomyopathy in LCHADD are explored.


Cardiomyopathy Fatty acid metabolism Heart failure Inborn errors of metabolism Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 


  1. 1.
    Bertini E, Dionisi-Vici C, Garavaglia B et al (1992) Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 151:121–126PubMedCrossRefGoogle Scholar
  2. 2.
    Bonnet D, Martin D, Pascale De L et al (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100:2248–2253PubMedGoogle Scholar
  3. 3.
    Colonna P, Iliceto S (2000) Myocardial infarction and left ventricular remodeling: results of the CEDIM trial. Carnitine Ecocardiografia Digitalizzata Infarto Miocardico. Am Heart J 139:S124–S130PubMedCrossRefGoogle Scholar
  4. 4.
    Corr PB, Yamada KA (1995) Selected metabolic alterations in the ischemic heart and their contributions to arrhythmogenesis. Herz 20:156–168PubMedGoogle Scholar
  5. 5.
    den Boer ME, Wanders RJ, Morris AA et al (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109:99–104CrossRefGoogle Scholar
  6. 6.
    Gillingham MB, Connor WE, Matern D et al (2003) Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab 79:114–123PubMedCrossRefGoogle Scholar
  7. 7.
    Glasgow AM, Engel AG, Bier DM et al (1983) Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency, and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res 17:319–326PubMedCrossRefGoogle Scholar
  8. 8.
    Hagenfeldt L, von Dobeln U, Holme E et al (1990) 3-Hydroxydicarboxylic aciduria–a fatty acid oxidation defect with severe prognosis. J Pediatr 116:387–392PubMedCrossRefGoogle Scholar
  9. 9.
    Helton E, Darragh R, Francis P et al (2000) Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy. Pediatrics 105:1260–1270PubMedGoogle Scholar
  10. 10.
    Jackson S, Bartlett K, Land J et al (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 29:406–411PubMedCrossRefGoogle Scholar
  11. 11.
    Martins E, Costa A, Silva E et al (1996) Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 19:373–374PubMedCrossRefGoogle Scholar
  12. 12.
    Olpin SE, Clark S, Andresen BS et al (2005) Biochemical, clinical, and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis 28:533–544PubMedCrossRefGoogle Scholar
  13. 13.
    Pons R, Roig M, Riudor E et al (1996) The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Neurol 14:236–243PubMedCrossRefGoogle Scholar
  14. 14.
    Primassin S, Ter Veld F, Mayatepek E, Spiekerkoetter U (2008) Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res 63:632–637PubMedCrossRefGoogle Scholar
  15. 15.
    Rocchiccioli F, Wanders RJ, Aubourg P et al (1990) Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 28:657–662PubMedCrossRefGoogle Scholar
  16. 16.
    Roe C, Ding J (2001) Chapter 101 mitochondrial fatty acid oxidation disorders. In: Scriver C, Beaudet A, Sly W et al (eds) The Metabolic and Molecular Bases of Inherited Diseases (MMBID). McGraw Hill, New York, pp 2297–2326Google Scholar
  17. 17.
    Roe CR, Roe DS, Wallace M, Garritson B (2007) Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders. Mol Genet Metab 92:346–350PubMedCrossRefGoogle Scholar
  18. 18.
    Saudubray JM, Martin D, de Lonlay P et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22:488–502PubMedCrossRefGoogle Scholar
  19. 19.
    Spiekerkoetter U, Sun B, Khuchua Z et al (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 21:598–607PubMedCrossRefGoogle Scholar
  20. 20.
    Tyni T, Palotie A, Viinikka L et al (1997) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. J Pediatr 130:67–76PubMedCrossRefGoogle Scholar
  21. 21.
    Wanders RJ, Ijlst L, Duran M et al (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients. J Inherit Metab Dis 14:325–328PubMedCrossRefGoogle Scholar
  22. 22.
    Winter SC (2003) Treatment of carnitine deficiency. J Inherit Metab Dis 26:171–180PubMedCrossRefGoogle Scholar
  23. 23.
    Winter SC, Buist NR (2000) Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine. Am Heart J 139:S63–S69PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Peter C. DykeII
    • 1
  • Laura Konczal
    • 1
  • Dennis Bartholomew
    • 1
  • Kim L. McBride
    • 1
  • Timothy M. Hoffman
    • 1
  1. 1.Department of PediatricsNationwide Children’s Hospital Heart CenterColumbusUSA

Personalised recommendations