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Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome
Yuki Kawashima1, Norifumi Takeda2, Akiharu Omori1
1Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
Journal of the American College of Cardiology
|March 11, 2026
Summary
In Marfan syndrome (MFS), specific FBN1 gene variants (in-frame variants in the DNCD region) significantly increase mitral valve surgery risk, especially in younger patients. This finding aids genotype-guided risk stratification for MFS management.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Mitral valve disease is a significant complication in Marfan syndrome (MFS), yet genotype-specific risk is understudied.
- Understanding these genetic links is crucial for managing MFS cardiovascular complications.
Purpose of the Study:
- To investigate genotype-specific differences in mitral valve disease progression and surgical intervention in MFS patients.
- To inform precision medicine strategies for Marfan syndrome.
Main Methods:
- Retrospective cohort study of 437 MFS patients with pathogenic FBN1 variants.
- Classification of variants by molecular mechanism (PTC vs. IFV) and genomic location.
- Time-to-event analysis to assess genotype-specific risks for mitral valve surgery.
Main Results:
- In-frame variants (IFVs) within the DNCD region showed a substantially higher 30-year cumulative incidence of mitral valve surgery (23.8%) compared to other IFVs (1.24%) and PTC variants (3.20%).
- IFVs in the DNCD region led to earlier mitral valve surgery onset (childhood/adolescence) versus PTC variants (around age 30).
- Cox analysis identified IFVs in the DNCD region as having the highest risk for mitral valve surgery in patients ≤30 years (HR: 7.83).
Conclusions:
- In-frame variants within the DNCD region of FBN1 confer the highest risk for mitral valve surgery in MFS patients.
- Distinct age-dependent risk patterns associated with these variants enable genotype-guided risk stratification.
- Implementing age-specific surveillance protocols based on genotype can transform MFS clinical management.
Keywords:
FBN1 variantsMarfan syndromegenotype-phenotype correlationmitral valve regurgitationmitral valve surgeryMore Related Videos
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