First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice

Bicuspid aortic valve (BAV) is the most common congenital heart disease. Since heritability is suspected, actual guidelines recommend to perform an echocardiographic assessment for first-degree relatives (FDR) of patient with BAV. This study aimed to assess the effectiveness and the feasibility of the current guidelines for the screening of FDR of patient with BAV in a pediatric cardiology daily practice. Consecutive patients with BAV and their FDR were prospectively included from January 2015 to March 2018 at Centre Hospitalier Universitaire de Laval, Quebec City (Canada). Data were retrospectively collected and analyzed. A total of 713 FDR of 213 consecutives index cases [median age: 11 (6–20) years] were studied. Up to 32 (6.6%) FDR had a BAV and 26 (5.4%) had an aortic valve dysfunction. A total of 14 (2.9%) FDR had an ascending aorta dilatation according to Z-score including 6 (1.2%) patients with an ascending aorta ≥ 45 mm. No statistically significant differences regarding BAV, aortic valve dysfunction and ascending aorta dilatation prevalence were identified between generations. Screening was done in 482 (67.6%), prescribed but not done in 134 (19%), not prescribed in 92 (13%) and declined in 5 (1%) FDR. The prevalence of BAV in FDR was similar to prospective adult studies and supports actual guidelines in pediatric cardiology practice. Ascending aorta dilatation was rare in our young population. Exhaustiveness and additional burden to implement current guidelines remain a challenge in daily practice.