Skip to main content

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

Abstract

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.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2

References

  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 151:121–126

    PubMed  Article  CAS  Google Scholar 

  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 100:2248–2253

    PubMed  CAS  Google Scholar 

  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–S130

    PubMed  Article  CAS  Google Scholar 

  4. Corr PB, Yamada KA (1995) Selected metabolic alterations in the ischemic heart and their contributions to arrhythmogenesis. Herz 20:156–168

    PubMed  CAS  Google Scholar 

  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 109:99–104

    Article  Google Scholar 

  6. Gillingham MB, Connor WE, Matern D et al (2003) Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab 79:114–123

    PubMed  Article  CAS  Google Scholar 

  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 17:319–326

    PubMed  Article  CAS  Google Scholar 

  8. Hagenfeldt L, von Dobeln U, Holme E et al (1990) 3-Hydroxydicarboxylic aciduria–a fatty acid oxidation defect with severe prognosis. J Pediatr 116:387–392

    PubMed  Article  CAS  Google Scholar 

  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 105:1260–1270

    PubMed  CAS  Google Scholar 

  10. Jackson S, Bartlett K, Land J et al (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 29:406–411

    PubMed  Article  CAS  Google Scholar 

  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 19:373–374

    PubMed  Article  CAS  Google Scholar 

  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 28:533–544

    PubMed  Article  CAS  Google Scholar 

  13. Pons R, Roig M, Riudor E et al (1996) The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Neurol 14:236–243

    PubMed  Article  CAS  Google Scholar 

  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 63:632–637

    PubMed  Article  CAS  Google Scholar 

  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 28:657–662

    PubMed  Article  CAS  Google Scholar 

  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 2297–2326

  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 92:346–350

    PubMed  Article  CAS  Google Scholar 

  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 22:488–502

    PubMed  Article  CAS  Google Scholar 

  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 21:598–607

    PubMed  Article  CAS  Google Scholar 

  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 130:67–76

    PubMed  Article  CAS  Google Scholar 

  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 14:325–328

    PubMed  Article  CAS  Google Scholar 

  22. Winter SC (2003) Treatment of carnitine deficiency. J Inherit Metab Dis 26:171–180

    PubMed  Article  CAS  Google Scholar 

  23. Winter SC, Buist NR (2000) Cardiomyopathy in childhood, mitochondrial dysfunction, and the role of L-carnitine. Am Heart J 139:S63–S69

    PubMed  Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Timothy M. Hoffman.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Dyke, P.C., Konczal, L., Bartholomew, D. et al. Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase. Pediatr Cardiol 30, 523–526 (2009). https://doi.org/10.1007/s00246-008-9351-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00246-008-9351-8

Keywords

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