Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study

Area of Science:

• Cardiology
• Metabolic Disorders
• Echocardiography

Background:

• Propionic acidemia (PA) can cause progressive left ventricular (LV) dysfunction and cardiomyopathy (CM), a major cause of mortality.
• Right ventricular (RV) function data in PA patients is lacking, despite its prognostic value in other cardiomyopathies.

Purpose of the Study:

• To assess systolic and diastolic RV function in PA patients using echocardiography.
• To determine the prevalence, onset, and combinations of RV functional parameters.
• To correlate RV function with LV size and function, and patient outcomes.

Main Methods:

• Cross-sectional, single-center study of 18 PA patients.
• Echocardiographic assessment of RV systolic and diastolic function.
• Analysis of tricuspid annulus S', RV-longitudinal strain, TAPSE, and tricuspid valve (TV) E/e' and E/A ratios.

Main Results:

• Abnormalities detected: TV E/e' (33.3%), TV E/A (16.7%), tricuspid annulus S' (16.7%), RV-longitudinal strain (11.1%), TAPSE (11.1%).
• Most common combinations: TV E/A + TV E/e' and TAPSE + TV S'.
• Abnormal RV function correlated with age and was present in all 5 non-survivors.

Conclusions:

• Diastolic RV dysfunction found in up to 33.3%, systolic in 16.7% of PA patients.
• Impaired RV function is associated with poor outcomes in PA.
• RV functional parameters are valuable additions to clinical and LV echocardiographic evaluations in PA.