Heart Diseases in Patients with Organic Acidemia

• 24 September 2024

Heart Diseases in Patients with Organic Acidemia
Organik Asidemi ile Takipli Hastalarda Kalp Hastalıkları
Sümeyra Zeynep ÖZBEY1, Mehmet GÜNDÜZ2, İbrahim İlker ÇETİN3, Esra KILIÇ4, Ahmet Cevdet CEYLAN5,
Özlem ÜNAL UZUN6, Aynur KÜÇÜKÇONGAR YAVAŞ1, Oya KIREKER KÖYLÜ1, Burak YÜREK1,
Gülten Burcu CİVELEK ÜREY1, Berrak BİLGİNER GÜRBÜZ1, Çiğdem Seher KASAPKARA1
1Department of Pediatric Metabolism, Ankara Bilkent City Hospital, Ankara, Türkiye
2Dr.Sami Ulus Child Health and Diseases Training And Research Hospital, Ankara, Türkiye
3Department of Pediatric Cardiology, Ankara Bilkent City Hospital, Ankara, Türkiye
4Department of Pediatric Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye
5Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Türkiye
6Department of Pediatric Genetics, Faculty of Medicine, Kocaeli Univercity, Kocaeli, Türkiye
Correspondence Address / Yazışma Adresi:
Sümeyra Zeynep ÖZBEY
Department of Pediatric Metabolism,
Ankara Bilkent City Hospital, Ankara, Türkiye
E-posta: s.zeynepozbey@hotmail.com
Original Article Özgün Araştırma
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.
Key Words: Echocardiography, Heart diseases, Organic acidemias

DOWNLOAD PDF