Perspective:

BAV is known to have a genetic basis in some patients. In addition, there is evidence that relatives of patients with BAV are at increased risk of aortic dilation even in the absence of BAV. Although estimates of the heritability of BAV and aortic dilation both are variable, current guidelines recommend screening first-degree relatives of patients with BAV. The present meta-analysis found a 7.3% prevalence of BAV among all screened relatives (substantially higher than the estimated 0.5% prevalence in the general population); and a 9.4% prevalence of aortic dilation among relatives, which was more common in the presence of concomitant BAV than in its absence (29.2% vs. 7.0%; risk ratio, 6.1) but in absolute terms affected more relatives with a tricuspid valve (200 of 2,749 screened relatives) than a BAV (91 of 485 screened relatives). As the authors discuss, the clinical implications associated with incidentally detected aortic dilation in a relative of a patient with BAV are not known. Although there is a clearer rationale for screening relatives for BAV, the relative benefits and risks of screening for aortic dilation need to be considered in the context of clinical outcomes, and consideration given for how early aortic screening should start and for how long it should continue.