Diastolic Function and Left Atrial Mechanics in Children With Marfan and Loeys-Dietz Syndrome

Background

Diastolic function in patients with pediatric Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) remains underexplored. Conventional diastolic assessments in this population can be challenging, and speckle-tracking echocardiography (STE)-derived left atrial (LA) strain measurements offer a novel and sensitive approach.

Methods

This retrospective, observational study included 37 patients with MFS, 37 patients with LDS, and 30 age-matched controls. Comprehensive echocardiographic evaluations were performed to assess diastolic function. STE-based LA strain measurements during the reservoir, conduit, and pump phases were obtained and analyzed.

Results

Demographics were mostly similar between groups. Patients with MFS and LDS vs controls exhibited lower LA reservoir strain (42.3% vs 32.5% in MFS, P < 0.001; 42.3% vs 34.5% in LDS, P = 0.004) and LA conduit strain (34.2% vs 24.7% in MFS, P < 0.001; 32.5% vs 26.2% in LDS, P = 0.004). LA pump strain remained similar between groups. In addition, conventional diastolic parameters differed significantly between MFS, LDS, and controls.

Conclusions

Pediatric patients with MFS and LDS exhibit lower LA reservoir and conduit strains, along with differences in early diastolic parameters, while maintaining preserved LA pump function. These findings suggest subclinical changes in early diastolic function. STE-derived LA strain offers a sensitive, noninvasive method for detecting subtle functional impairments that may precede clinical dysfunction, underscoring its diagnostic potential for early monitoring and management of at-risk patients.