What question did this study set out to answer?

To examine cardiovascular profiles and factors influencing thoracic aortic events risk in individuals with Marfan syndrome.

July 11, 2026Open Access

Cardiovascular involvement and outcomes in Marfan syndrome: new observations on evolving aortic risk associations in a single-center cohort from Poland

Key Points

To examine cardiovascular profiles and factors influencing thoracic aortic events risk in individuals with Marfan syndrome.
Retrospective analysis of MFS patients diagnosed via revised Ghent criteria.
Follow-up duration was a median of 6.8 years at a tertiary center in Poland.
Evaluated aortic involvement, systemic scores, family history, and FBN1 variant types.
107 thoracic aortic events occurred in 56% of patients, with a median onset age of 33 years.
Second thoracic aortic events were more frequent after dissection than elective surgery (HR 2.9, 95% CI 1.2-7.1, P = 0.01).
Factors influencing TAE risk included male gender, systemic score, and FBN1 variant type, varying with age.

Abstract

INTRODUCTION: Marfan syndrome (MFS) is a connective tissue disorder with aortic dilatation driving morbidity and mortality. OBJECTIVES: To characterize cardiovascular profile, outcomes, and factors associated with the lifetime risk of thoracic aortic events (TAE) in a contemporary MFS cohort. Patients and methods: We retrospectively analyzed data from MFS patients diagnosed based on revised Ghent criteria and followed for a median 6.8 (IQR 3-10) years at our tertiary center. RESULTS: The cohort comprised 151 patients (104 probands, median age 32 years, 58% female). Aortic root involvement was present in 95% patients, a positive family history in 69%, a systemic score of ≥7 points in 61%, and ectopia lentis in 36%. Among patients with identified FBN1 variants, 60% carried dominant-negative and 40% haploinsufficiency variants, 27% variants were novel. Overall, 107 TAE occurred in 85 (56%) patients. The first TAE (median age 33 years) comprised 60 elective operations and 25 aortic dissections; 19 in previously undiagnosed individuals. TAE-free survival was shorter in men and in patients with high systemic score, mainly before age 35, whereas later haploinsufficiency variants were associated with TAE. A second TAE developed in 18 (21%) patients and was more frequent after dissection than elective surgery (HR 2.9, 95% CI 1.2-7.1, P = 0.01). Mitral valve surgery was performed in 13% of patients. CONCLUSIONS: The majority of MFS patients experienced a TAE. The association of TAE risk with factors, such as male gender, extra-aortic features, and FBN1 variant type, varies with age group.

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