Abstract

Objective: Organic acidemias are intoxication-type inborn errors of the metabolism with multiple organ involvement.Patients with organic acidemia usually present in the neonatal or infantile period with high anion gap metabolic acidosis and hyperammonemia. The present study investigates the presence of congenital heart defects and secondary heart diseases in patients with organic acidemia.

Material and Methods: Included in the study were 31 patients of whom 14 were diagnosed with methylmalonic acidemia (MMA), 11 with propionic acidemia and six with isovaleric acidemia. The cardiac findings of all patients included in the study were evaluated.

Results: Of the sample, 63.64% were identified with accompanying congenital heart disease, with the most common diagnosis being propionic acidemia and the most common heart defects being atrial septal defects and mitral regurgitation.

Conclusion: The accumulation of toxic intermediate metabolites due to enzyme deficiency is thought to be the main mechanism behind the cardiac involvement noted in organic acidemias. In the presence of unexplained deterioration, the potential for organic acidemia to accompany congenital heart disease should be kept in mind, and so it is important to screen patients with organic acidemias by echocardiography.

Keywords: Organic acidemias, Congenital heart diseases, Sudden clinical deterioration, Echocardiography

References

  1. Wongkittichote P, Mew NA, Chapman KA. Propionyl-CoA carboxylase - A review. Mol Genet Metab 2017; 145–52.
  2. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 2014;9:130.
  3. Kovacevic A, Garbade SF, Hoffmann GF, Gorenflo M, Kölker S, Staufner C. Cardiac phenotype in propionic acidemia - Results of an observational monocentric study. Mol Genet Metab 2020;130:41-8.
  4. Richard E, Pérez B, Pérez-Cerdá C, Desviat LR. Understanding molecular mechanisms in propionic acidemia and investigated therapeutic strategies. Expert Opin Orphan Drugs 2015; 3:1427–38.
  5. Fraser JL, Venditti CP. Methylmalonic and propionic acidemias: clinical management update. Curr Opin Pediatr 2016; 28:682– 93.
  6. Park KC, Krywawych S, Richard E, Desviat LR, Swietach P. Cardiac Complications of Propionic and Other Inherited Organic Acidemias. Front Cardiovasc Med 2020; 7:617451.
  7. Gilbert-Barness E. Review: metabolic cardiomyopathy and conduction system defects in children. Ann Clin Lab Sci 2004;34:15–34.
  8. de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, et al. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res 2009; 66:91-5.
  9. Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 2005; 85:286– 90.
  10. Lee TM, Addonizio LJ, Barshop BA, Chung WK. Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis 2009;32 Suppl 1(01): S97-101.
  11. Prada CE, Al Jasmi F, Kirk EP, Hopp M, Jones O, Leslie ND, et al. Cardiac disease in methylmalonic acidemia. J Pediatr 2011;159:862–4.
  12. Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010;156:128–34.
  13. Nigel S, Tan MD, Ravi R, Bajaj MD, Chantal Morel MD, Sheldon M et al. Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man. CMAJ 2018; 23;190: E883-7.
  14. Baumgartner D, Scholl-Burgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 2007; 150:192–7.
  15. Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, et al. Natural history of propionic acidemia. Mol Genet Metab 2012;105:5-9.
  16. Romano S, Valayannopoulos V, Touati G, Jais JP, Rabier D, de Keyzer Y, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010;156:128-34.

Copyright and license

Copyright © 2024 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Özbey SZ, Gündüz M, Çetin İİ, Ceylan AC, Kılıç E, Ünal Ö, et al. Heart Diseases in Patients with Organic Acidemia. Turk J Pediatr Dis [Internet]. 2024 May 13 [cited 2025 Aug. 23];18(3):153-8. Available from: https://turkjpediatrdis.org/article/view/1042