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Cardiovascular manifestations in men and women carrying a FBN1 mutation

(2010) EUROPEAN HEART JOURNAL. 31(18). p.2223-2229
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Organization
Abstract
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. A total of 1013 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). 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.
Keywords
I FIBRILLINOPATHIES, DIAGNOSTIC-CRITERIA, FIBRILLIN GENE, MARFAN-SYNDROME, MITRAL-VALVE-PROLAPSE, THORACIC AORTIC-ANEURYSMS, Marfan syndrome, Cardiovascular risk, Aortic dilatation, FBN1 gene mutation, Aortic dissection, 1009 PROBANDS, ROOT DILATION, LIFE EXPECTANCY, GENDER-DIFFERENCES

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Chicago
Detaint, Delphine, Laurence Faivre, Gwenaelle Collod-Beroud, Anne H Child, Bart Loeys, Christine Binquet, Elodie Gautier, et al. 2010. “Cardiovascular Manifestations in Men and Women Carrying a FBN1 Mutation.” European Heart Journal 31 (18): 2223–2229.
APA
Detaint, D., Faivre, L., Collod-Beroud, G., Child, A. H., Loeys, B., Binquet, C., Gautier, E., et al. (2010). Cardiovascular manifestations in men and women carrying a FBN1 mutation. EUROPEAN HEART JOURNAL, 31(18), 2223–2229.
Vancouver
1.
Detaint D, Faivre L, Collod-Beroud G, Child AH, Loeys B, Binquet C, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. EUROPEAN HEART JOURNAL. 2010;31(18):2223–9.
MLA
Detaint, Delphine, Laurence Faivre, Gwenaelle Collod-Beroud, et al. “Cardiovascular Manifestations in Men and Women Carrying a FBN1 Mutation.” EUROPEAN HEART JOURNAL 31.18 (2010): 2223–2229. Print.
@article{1064098,
  abstract     = {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.
A total of 1013 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 [{\textlangle} 30 years: 57\% (95\% CI: 52-63) vs. 50\% (95\% CI: 45-55), P = 0.0076] and aortic events [{\textlangle} 30 years: 21\% (95\% CI: 17-26) vs. 11\% (95\% CI: 8-16), P {\textlangle} 0.0001; adjusted HR: 1.4 (1.1-1.8), P = 0.005]. The prevalence of mitral valve (MV) prolapse [{\textlangle} 60 years: 77\% (95\% CI: 72-82)] and MV regurgitation [{\textlangle} 60 years: 61\% (95\% CI: 53-69)] also increased steadily with age, but surgery limited to the MV remained rare [{\textlangle} 60 years: 13\% (95\% CI: 8-21)]. No difference between genders was observed (for all P {\textrangle} 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).
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.},
  author       = {Detaint, Delphine and Faivre, Laurence and Collod-Beroud, Gwenaelle and Child, Anne H and Loeys, Bart and Binquet, Christine and Gautier, Elodie and Arbustini, Eloisa and Mayer, Karin and Arslan-Kirchner, Mine and Stheneur, Chantal and Halliday, Dorothy and Beroud, Christophe and Bonithon-Kopp, Claire and Claustres, Mireille and Plauchu, Henri and Robinson, Peter N and Kiotsekoglou, Anatoli and De Backer, Julie and Ades, Lesley and Francke, Uta and De Paepe, Anne and Boileau, Catherine and Jondeau, Guillaume},
  issn         = {0195-668X},
  journal      = {EUROPEAN HEART JOURNAL},
  keyword      = {I FIBRILLINOPATHIES,DIAGNOSTIC-CRITERIA,FIBRILLIN GENE,MARFAN-SYNDROME,MITRAL-VALVE-PROLAPSE,THORACIC AORTIC-ANEURYSMS,Marfan syndrome,Cardiovascular risk,Aortic dilatation,FBN1 gene mutation,Aortic dissection,1009 PROBANDS,ROOT DILATION,LIFE EXPECTANCY,GENDER-DIFFERENCES},
  language     = {eng},
  number       = {18},
  pages        = {2223--2229},
  title        = {Cardiovascular manifestations in men and women carrying a FBN1 mutation},
  url          = {http://dx.doi.org/10.1093/eurheartj/ehq258},
  volume       = {31},
  year         = {2010},
}

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