Echocardiography Screening of Siblings of Children With Bicuspid Aortic Valve

BACKGROUND AND OBJECTIVE: Left heart defects, such as bicuspid aortic valve (BAV), are heritable. Consensus guidelines have recommended echocardiographic screening of first-degree relatives. The utility of this approach in siblings of children with BAV is not known. The objective of this study is to evaluate the yield of routine screening of siblings of children with BAV and undertake an economic analysis of this practice.

METHODS: Siblings of children with BAV who underwent echocardiographic screening in a single pediatric cardiology practice were identified. The anatomic features and hemodynamics of siblings newly diagnosed with BAV were recorded. A Markov model was constructed to determine cost-effectiveness ratios, and sensitivity analyses were performed.

RESULTS: There were 207 screened siblings of 181 children with BAV. The median age at screening was 7 years. BAV was identified in 21 (10.1%) of siblings screened. The median peak Doppler gradient was 18 mm Hg. Aortic insufficiency was mild or less in all. The mean cost to diagnose BAV in a sibling was $2109 per new case found. The estimated mean cost to avert a single aortic dissection in the third or fourth decade of life was $363 911. The estimated cost per life-year saved was $74 884 and ranged from $17 461 to $1 136 536 in sensitivity analysis.

CONCLUSIONS: Echo screening among siblings of those with BAV is effective and inexpensive and may lower the risk of the complications of such as dissection, although it comes at a moderate cost relative to benefits gained. Screening of siblings should be incorporated into clinical care.