Cardiac Involvement in Classical Organic Acidurias: Clinical Profile and Outcome in a Pediatric Cohort

• DOI: 10.3390/diagnostics13243674
• Publication Date: 2023-12-15T11:53:16Z
• Authors: Silvia Passantino; Serena Chiellino; Francesca Girolami; Mattia Zampieri; Giovanni Calabri; Gaia Spaziani; Elena Bennati; Giulio Porcedda; Elena Procopio; Iacopo Olivotto; Silvia Favilli
• Keywords: Etiology; Methylmalonic acidemia; Dilated Cardiomyopathy

Background: Cardiac involvement is reported in a significant proportion of patients with classical organic acidurias (OAs), contributing to disability and premature death. Different cardiac phenotypes have been described, among which dilated cardiomyopathy (DCM) predominant. Despite recent progress diagnosis treatment, the natural history OAs remains unresolved, specifically regard impact complications. We therefore performed retrospective study address this issue at our Referral Center for Pediatric Inherited Errors Metabolism. Methods: Sixty (propionic (PA), methylmalonic (MMA) isovaleric acidemias maple syrup urine disease) diagnosed from 2000 2022 were systematically assessed baseline follow-up. Results: anomalies found 23/60 OA patients, all PA or MMA, represented by DCM (17/23 patients) and/or acquired long QT syndrome (3/23 patients). The presence was associated worst prognosis. rate occurrence major adverse events (MACEs) 5 years 55% cardiomyopathy; 35% MMA 23% without cardiomyopathy. Liver transplantation seven (12%), due worsening impairment, led stabilization metabolic status function. Conclusions: documented about one third children OAs, confined often poor outcome over 50%. Etiological essential guiding management risk stratification.