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Simple Renal Cysts in Marfan Syndrome: Prevalence and Association With Aortic Events

Claire Bouleti1, Noemie Tence2, Raphael Thuillier3

  • 1University of Poitiers, Clinical Investigation Center (INSERM 1402), FACT and Poitiers Hospital, Cardiology Department, Poitiers, France.

JACC. Advances
|June 18, 2025
PubMed
Abstract

Insights

Simple renal cysts (SRCs) are more common in Marfan syndrome (MFS) patients. These cysts are independently linked to aortic dissection in individuals with MFS, suggesting a potential marker for aortic disease.

Area of Science:

  • Cardiovascular Medicine
  • Nephrology
  • Genetics

Background:

  • Simple renal cysts (SRCs) are linked to aortic aneurysms/dissection in the general population.
  • Marfan syndrome (MFS) is associated with severe aortic disease, but SRC data in MFS is limited.

Purpose of the Study:

  • To determine SRC prevalence in MFS patients versus controls.
  • To investigate the association between SRCs and aortic events in MFS patients.

Main Methods:

  • 131 MFS patients with fibrillin-1 gene variants were matched 1:1 for age/sex with controls.
  • All participants underwent complete computed tomography scans.

Main Results:

  • SRC prevalence was higher in MFS patients (41%) than controls (21%).
  • SRC prevalence correlated with aortic disease severity in MFS.
  • SRC presence independently predicted aortic dissection in MFS patients (aOR: 2.30).

Conclusions:

  • SRCs are significantly more prevalent in MFS patients compared to matched controls.
  • SRCs are independently associated with aortic dissection in MFS.
  • Further research is needed to confirm SRCs as a marker for aortic disease severity in MFS.
Keywords:
CT scanMarfan syndrome

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