Association Between Cardiac Size, Systolic Function, and Complications in Vascular Ehlers-Danlos Syndrome

Area of Science:

• Cardiology
• Genetics
• Radiology

Background:

• Vascular Ehlers-Danlos syndrome (vEDS) is a severe genetic disorder affecting connective tissue, primarily collagen type III.
• It is characterized by arterial dissections, organ ruptures, and a high mortality rate.
• Understanding cardiac involvement is crucial for managing vEDS complications.

Purpose of the Study:

• To assess ventricular size and function in adults with vEDS using cardiac MRI.
• To investigate the association between cardiac parameters and vEDS-related complications such as dissection, aneurysm, and pneumothorax.

Main Methods:

• Retrospective comparison of cardiac MRI data from 26 adults with genetically confirmed vEDS and 26 matched healthy controls.
• Analysis included ventricular volumetry, ejection fraction (LVEF, RVEF), and arterial vasculature assessment.
• Correlation of cardiac findings with documented vEDS complications using multivariable logistic regression.

Main Results:

• Individuals with vEDS exhibited significantly lower left and right ventricular ejection fractions (LVEF, RVEF) compared to controls.
• Increased left ventricular end-diastolic volume (LVEDVi) and end-systolic volume (LVESVi) were associated with higher rates of dissection and aneurysms.
• Lower LVEF (<58%) was a predictor of overall complications and was exclusively observed in vEDS patients who developed pneumothorax.

Conclusions:

• Reduced left ventricular ejection fraction and enlarged cardiac dimensions are significant indicators of complications in vEDS.
• Cardiac MRI parameters can help identify vEDS patients at higher risk for dissections, aneurysms, and pneumothorax.
• These findings highlight the importance of cardiac evaluation in the management of vEDS.