title: Screening for Familial Thoracic Aortic Aneurysms with Aortic Imaging Does Not Detect All Potential Carriers of the Disease.
abstract: BACKGROUND
  About 20% of patients with thoracic aortic aneurysm or dissection (TAAD) have a first-degree relative with a similar disease. The familial form (FTAAD) of the disease is inherited in an autosomal-dominant pattern. Current guidelines for thoracic aortic disease recommend screening of first-degree relatives of TAAD patients. In known familial disease, screening of both first- and second-degree relatives is recommended. However, the outcomes of such a screening program are unknown.
  
  
  METHODS
  We screened all first- and second-degree relatives in seven families with known FTAAD with echocardiography. No underlying gene defect had been detected in these families.
  
  
  RESULTS
  Of 119 persons investigated, 13 had known thoracic aortic disease. In the remaining 106 cases, we diagnosed 19 additional individuals with a dilated ascending thoracic aorta; for an autosomal-dominant disease, the expected number of individuals in this group would have been 40 (p<0.0001). Further, only one of the 20 first-degree relatives younger than 40 years had a dilated aorta, although the expected number of individuals with a disease-causing mutation would have been 10.
  
  
  CONCLUSIONS
  In most families with TAAD, a diagnosis still relies on measuring the diameter of the thoracic aorta. We show that a substantial number of previously unknown cases of aortic dilatation can be identified by screening family members. It is, however, not possible to consider anyone free of the condition, even if the aortic diameter is normal, especially at a younger age.
authors.affiliation: Department of Surgical and Perioperative Science, Heart Centre, Umeå University , Umeå , Sweden.
authors.forename: Matias
authors.initials: M
authors.lastname: Hannuksela
authors.affiliation: Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University , Umeå , Sweden.
authors.forename: Eva-Lena
authors.initials: EL
authors.lastname: Stattin
authors.affiliation: Department of Public Health and Clinical Medicine, Umeå University , Umeå , Sweden.
authors.forename: Bengt
authors.initials: B
authors.lastname: Johansson
authors.affiliation: Department of Public Health and Clinical Medicine, Umeå University , Umeå , Sweden.
authors.forename: Bo
authors.initials: B
authors.lastname: Carlberg
keywords: Aorta; Aortic aneurysm; Aortic dissection