Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital

Aim: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (> 40 mm) in first degree relatives (FDR) of patients with isolated BAV in a general hospital. Methods and results: Patients with isolated BAV received information advising cardiac screening of their FDR. Referred and screened were 134 FDR of 54 adult index patients with isolated BAV (median 2 per index patient). FDR's mean age was 49 years (range 16-83 years) and 41% were male. They comprised 5 parents (3.7%), 52 siblings (39%) and 77 offspring (57%). Among these FDR, the prevalence of BAV was 6.0% (8 patients). In FDR without BAV, 10 (7.5%) had aortic dilatation. 'Familial BAV' was present in 9/54 families (17%). Conclusion: In a general hospital, screening of FDR of patients with isolated BAV resulted in a substantial yield of 13% new cases with BAV or aortic dilatation without BAV. (c) 2017 Elsevier B.V. All rights reserve