DETAILED CARDIAC FUNCTIONAL AND ELECTRICAL PHENOTYPING IN PROPIONIC ACIDEMIA

PI: Bart Bjinens, ICREA Research Professor, Universitat Pompeu Fabra, Barcelona, Spain

Experience has shown that individuals with Propionic Acidemia (PA) can get Heart Failure (HF) or experience a Sudden Cardiac Death (SCD), induced by cardiac arrhythmias. Given the rarity of PA, little is known about how having the disease, or being a carrier of PA, affects the heart, so treating cardiologists often rely on general guidelines for Heart Failure, associated with the enlargement of the heart and potential decrease in Ejection Fraction; or SCD, often associated with a prolongation of the QT interval on the electrocardiogram (ECG).

However, preliminary assessment of more detailed echocardiographic studies, and individual experience about the lack of improvement using standard therapies, suggests that the PA heart might not behave in a similar way as the majority of HF and SCD patients. Therefore, we have started with the collection of an extended cohort of PA patients, carriers and non-carrier family members, in which we performed comprehensive echocardiograms and ECGs, as well as extended genetic testing.

In this study, we propose to analyze the available imaging and electrical information in detail to study if indeed there is a specific PA cardiomyopathy, that explains both HF and SCD, and how this is expressed in different individuals. To ensure the most comprehensive quantification, we will use contemporary Machine Learning, besides classical cardiological parameters.

If successful, this could open possibilities for a better and more personalized assessment of the PA heart, as well as improved follow-up and (medical and dietary) management to reduce the risk of HF and SCD.