Characteristics of atrial ventricular coupling and left atrial function impairment in early Fabry disease patients...

The study was designed to investigate the characteristics of atrial ventricular coupling and left atrial (LA) function impairment in patients with Fabry disease (FD), especially those in the early stages of the condition.

A total of 65 patients with Fabry disease who completed echocardiographic examinations from January 2018 to May 2024 were ultimately included. Among them, 25 patients with FD did not have left ventricular (LV) hypertrophy (LVH). Additionally, 65 healthy controls were matched to the overall FD population by gender and age, from which 25 controls were selected to match 25 FD patients without LVH based on gender and age. The differences in left atrioventricular coupling index (LACI) and left atrial function between the total FD patients and the healthy control group, as well as between the FD patients without LVH and the healthy control group, were compared. The effect of age on the evolution of LA strain and LACI in FD patients without LVH was examined by adding an interaction term (FD × age) to the models. The correlation between LA and LV parameters in early and total FD patients was evaluated using the Pearson's correlation.

For early Fabry disease patients without LVH, LA reservoir function, contractile function, and LACI were all impaired compared to the control group. LACI in early FD patients increased by 0.007 more per year than in healthy controls (P = 0.004). This increase was mainly due to the faster increase in the minimum LA volume in early Fabry disease patients (P = 0.001). In early FD patients, LACI was positively correlated with age and E/e', and negatively correlated with LASr.

This study found that both LA function and LACI were impaired in early FD patients, with LACI exhibiting a faster upward trend in early-stage FD compared to the control group, further highlighting its value in Fabry disease.