Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome

Journal of the American College of Cardiology
Olivier MilleronGuillaume Jondeau

Abstract

Aortic risk has not been evaluated in patients with Marfan syndrome and documented pathogenic variants in the FBN1 gene. This study sought to describe aortic risk in a population with Marfan syndrome with pathogenic variants in the FBN1 gene as a function of aortic root diameter. Patients carrying an FBN1 pathogenic variant who visited our reference center at least twice were included, provided they had not undergone aortic surgery or had an aortic dissection before their first visit. Aortic events (aortic surgery or aortic dissection) and deaths were evaluated during the 2 years following each patient visit. The risk was calculated as the number of events divided by the number of years of follow-up. A total of 954 patients were included (54% women; mean age 23 years). During follow-up (9.1 years), 142 patients underwent prophylactic aortic root surgery, 5 experienced type A aortic dissection, and 12 died (noncardiovascular causes in 3, unknown etiology in 3, post-operative in 6). When aortic root diameter was <50 mm, risk for proven type A dissection (0.4 events/1,000 patient-years) and risk for possible aortic dissection (proven aortic dissection plus death of unknown cause, 0.7 events/1,000 patients-years) remained low in th...Continue Reading

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Citations

May 24, 2020·Genes·Thomas GrangeGuillaume Jondeau
Feb 6, 2021·Diagnostics·Paolo FrasconiStefano Nistri
Mar 5, 2020·Journal of the American College of Cardiology·Mary J Roman, Richard B Devereux
Mar 3, 2021·The Journal of Thoracic and Cardiovascular Surgery·Mary J Roman, Julie De Backer
Mar 19, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Pauline ArnaudGuillaume Jondeau
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Dec 24, 2020·Nature Reviews. Cardiology·Eduardo Bossone, Kim A Eagle
Jul 30, 2021·Molecular Genetics & Genomic Medicine·Xiaoyun YinYuanqing Yao

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