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Cardiovascular manifestations in men and women carrying a FBN1 mutation.

Abstract：

AIMS:In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation. METHODS AND RESULTS:A total of 1,013 probands with pathogenic FBN1 mutations were included, among whom 965 patients [median age: 22 years (11-34), male gender 53%] had data suitable for analysis. The percentage of patients with an ascending aortic (AA) dilatation increased steadily with increasing age and reached 96% (95% CI: 94-97%) by 60 years. The presence of aortic events (dissection or prophylactic surgery) was rare before 20 years and then increased progressively, reaching 74% (95% CI: 67-81%) by 60 years. Compared with women, men were at higher risk for AA dilatation [≤ 30 years: 57% (95% CI: 52-63) vs. 50% (95% CI: 45-55), P = 0.0076] and aortic events [≤ 30 years: 21% (95% CI: 17-26) vs. 11% (95% CI: 8-16), P < 0.0001; adjusted HR: 1.4 (1.1-1.8), P = 0.005]. The prevalence of mitral valve (MV) prolapse [≤ 60 years: 77% (95% CI: 72-82)] and MV regurgitation [≤ 60 years: 61% (95% CI: 53-69)] also increased steadily with age, but surgery limited to the MV remained rare [≤ 60 years: 13% (95% CI: 8-21)]. No difference between genders was observed (for all P> 0.20). From 1985 to 2005 the prevalence of AA dilatation remained stable (P for trend = 0.88), whereas the percentage of patients with AA dissection significantly decreased (P for trend = 0.01). CONCLUSION:The CV risk remains important in patients with an FBN1 gene mutation and is present throughout life, justifying regular aortic monitoring. Aortic dilatation or dissection should always trigger suspicion of a genetic background leading to thorough examination for extra-aortic features and comprehensive pedigree investigation.

journal_name

Eur Heart J

journal_title

European heart journal

authors

Détaint D,Faivre L,Collod-Beroud G,Child AH,Loeys BL,Binquet C,Gautier E,Arbustini E,Mayer K,Arslan-Kirchner M,Stheneur C,Halliday D,Beroud C,Bonithon-Kopp C,Claustres M,Plauchu H,Robinson PN,Kiotsekoglou A,De Backer

doi

10.1093/eurheartj/ehq258

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

2223-9

issue

eissn

0195-668X

issn

1522-9645

pii

ehq258

journal_volume

pub_type

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Cardiovascular manifestations in men and women carrying a FBN1 mutation.