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