A pilot project of familial screening in patients with bicuspid aortic valve disease

J Heart Valve Dis. 2013 Mar;22(2):150-5.


Background and aim of the study: Bicuspid aortic valve (BAV) is a common congenital cardiac abnormality, is often familial, and is associated with dilatation of the aortic root. The risk of dissection is significantly higher than that in the general population, occurring at a younger age than in patients with idiopathic aortic aneurysms. Current ACC/AHA guidelines recommend familial echocardiographic screening which, to the present authors' knowledge, is not performed routinely and uniformly. The aim of this pilot project was to explore the practicalities of running such a program.

Methods: An initial cohort of 47 patients who had undergone surgery for BAV disease and/or associated aneurysmal aortic dilatation were offered counseling and familial screening. Referred first-degree relatives (FDR) underwent aortic valve and root assessment by standard two-dimensional echocardiography.

Results: Twenty-four index patients (51%) referred a total of 75 FDR (approximately three per patient) who wished to undergo echocardiography, of whom 52 (70%) attended for review. The pick-up rate of newly detected BAV was 8% (four of 52 relatives). One of these asymptomatic individuals had a significant ascending aortic aneurysm, which required prompt surgery. In the families of the 24 index patients, there was a total of eight cases (14% prevalence) of aortic valve disease, either known or newly detected via screening.

Conclusion: This pilot study confirmed the relatively high prevalence of BAV among FDR of patients who have undergone surgery for BAV-associated pathology. Patients should be made aware of the condition's pattern of inheritance, and familial screening should be actively pursued to reduce the potential morbidity and mortality associated with BAV and its related aortopathy. A number of important and practical considerations for setting-up a familial screening program are discussed.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Aortic Aneurysm, Thoracic / diagnostic imaging*
  • Aortic Aneurysm, Thoracic / etiology
  • Aortic Aneurysm, Thoracic / genetics
  • Aortic Valve / abnormalities
  • Aortic Valve / diagnostic imaging
  • Bicuspid Aortic Valve Disease
  • Echocardiography
  • Family*
  • Female
  • Genetic Predisposition to Disease
  • Heart Valve Diseases / complications
  • Heart Valve Diseases / diagnostic imaging*
  • Heart Valve Diseases / genetics
  • Humans
  • Male
  • Mass Screening / methods*
  • Middle Aged
  • Pilot Projects
  • Practice Guidelines as Topic