Programa del congreso

Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by propionyl-CoA carboxylase deficiency, leading to accumulation of toxic metabolites. While its metabolic consequences are well established, cardiovascular effects remain incompletely understood. This study evaluated cardiac differences across pediatric participants (<18 years) grouped by genotype: non-carriers, heterozygous carriers, and homozygous PA. Clinical data, ECGs, and echocardiograms were collected, with QTc intervals manually measured and echocardiographic indices normalized to body surface area and age-adjusted z-scores. Statistical comparisons used Chi-square, ANOVA, or Kruskal–Wallis tests, depending on distribution.

ECG analysis revealed no significant differences in heart rate z-scores. However, QTc prolongation was observed in homozygous participants compared to both carriers and non-carriers. T-wave abnormalities were exclusive to the homozygous group, consistent with previously described arrhythmic features in PA.

Echocardiography demonstrated structural remodeling among homozygous participants, including significantly increased left atrial long-axis diameter and higher LV end-diastolic volume z-scores, findings consistent with dilated cardiomyopathy. Short-axis diameters showed a non-significant enlarging trend. The sphericity volume index was also higher in homozygous patients, suggesting potential utility in risk stratification for PA-related remodeling.

Interestingly, heterozygous carriers displayed intermediate cardiac abnormalities. Enlarged atrial and ventricular dimensions, while less pronounced than in homozygous patients, were greater than in non-carriers. These findings suggest carriers may experience subclinical cardiac involvement, challenging the assumption of unaffected status.