title: Aortic events in a nationwide Marfan syndrome cohort.
abstract: BACKGROUND
  Marfan syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan syndrome cohort.
  
  
  METHODS
  The nationwide cohort of Danish Marfan syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan syndrome diagnosis prior or after the first aortic event.
  
  
  RESULTS
  From the total cohort of 412 patients, 150 (36.4 %) had an aortic event. Fifty percent were event free at age 49.6. Eighty patients (53.3 %) had prophylactic surgery and seventy patients (46.7 %) a dissection. The yearly event rate was 0.02 events/year/patient in the period 1994-2014. Male patients had a significant higher risk of an aortic event at a younger age with a hazard ratio of 1.75 (CI 1.26-2.42, p = 0.001) compared with women. Fifty-three patients (12.9 %) were diagnosed with MFS after their first aortic event which primarily was aortic dissection [n = 44 (83.0 %)].
  
  
  CONCLUSIONS
  More than a third of MFS patients experienced an aortic event and male patients had significantly more aortic events than females. More than half of the total number of dissections was in patients undiagnosed with MFS at the time of their event. This emphasizes that diagnosing MFS is lifesaving and improves mortality risk by reducing the risk of aorta dissection.
authors.affiliation: Department of Cardiology, Aarhus University Hospital, 8200, Aarhus N, Denmark. kristian.groth@ki.au.dk.|Department of Molecular Medicine, Aarhus University Hospital, 8200, Aarhus N, Denmark. kristian.groth@ki.au.dk.
authors.forename: Kristian A
authors.initials: KA
authors.lastname: Groth
authors.affiliation: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200, Aarhus N, Denmark.|Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000, Aarhus C, Denmark.
authors.forename: Kirstine
authors.initials: K
authors.lastname: Stochholm
authors.affiliation: Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.|The RAREDIS Database, Section of Rare Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark.
authors.forename: Hanne
authors.initials: H
authors.lastname: Hove
authors.affiliation: Department of Cardiology, Rigshospitalet, 2100, Copenhagen, Denmark.
authors.forename: Kasper
authors.initials: K
authors.lastname: Kyhl
authors.affiliation: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200, Aarhus N, Denmark.|Department of Clinical Genetics, Aarhus University Hospital, 8200, Aarhus N, Denmark.
authors.forename: Pernille A
authors.initials: PA
authors.lastname: Gregersen
authors.affiliation: Department of Cardiology, Rigshospitalet, 2100, Copenhagen, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Vejlstrup
authors.affiliation: Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200, Aarhus N, Denmark.
authors.forename: John R
authors.initials: JR
authors.lastname: Østergaard
authors.affiliation: Department of Molecular Medicine, Aarhus University Hospital, 8200, Aarhus N, Denmark.|Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000, Aarhus C, Denmark.
authors.forename: Claus H
authors.initials: CH
authors.lastname: Gravholt
authors.affiliation: Department of Cardiology, Aarhus University Hospital, 8200, Aarhus N, Denmark.
authors.forename: Niels H
authors.initials: NH
authors.lastname: Andersen
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000601:surgery; D001014:Aortic Aneurysm / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000601:surgery; D019917:Blood Vessel Prosthesis Implantation; D002648:Child; D002675:Child, Preschool; D003718:Denmark / Q000453:epidemiology; D018572:Disease-Free Survival; D005260:Female; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000601:surgery; D008875:Middle Aged; D011237:Predictive Value of Tests; D016016:Proportional Hazards Models; D012042:Registries; D012307:Risk Factors; D012737:Sex Factors; D013997:Time Factors; D055815:Young Adult
keywords: Aortic aneurism; Aortic dissection; Epidemiology; Genetic disease; Rare diseases