Family Screening for Bicuspid Aortic Valve and Aortic Dilation

Quick Takes

  • In a meta-analysis of 23 observational studies published between 1978 and 2021, the prevalence of BAV among relatives was 7.3% (95% CI, 6.1%-8.6%) and per family screened was 23.6% (95% CI, 18.1%-29.5%).
  • The prevalence of aortic dilation among relatives was 9.4% (95% CI, 5.7%-13.9%), and was higher among relatives with BAV (29.2%; 95% CI, 15.3%-45.1%) compared to those with a tricuspid valve (7.0%; 95% CI, 3.2%-12.0%).

Study Questions:

What is the prevalence of bicuspid aortic valve (BAV) and aortic dilation among family members of people with BAV?


In a systematic review and meta-analysis of original reports, MEDLINE, Embase, and Cochrane CENTRAL databases were searched from inception to December 2021, using relevant search terms for data reflecting the screened prevalence of BAV and aortic dilatation. Prespecified outcomes were the prevalence of BAV in all family members screened, in first-degree relatives only, and at the family level (counting a family as affected if ≥1 additional family member was affected); and the prevalence of aortic dilation in all relatives screened and in first-degree relatives only.


A total of 23 observational studies published between 1978 and 2021 met inclusion criteria and included 2,297 index cases (32 ± 21 years old, 71 ± 3.8% male) and 6,054 screened relatives (29 ± 13 years old, 50.6 ± 5.1% male). Most studies were prospective (21 of 23 studies) and recruited from single-center university teaching hospitals (18 of 23 studies) or were multicenter (3 studies). The prevalence of BAV among all screened relatives was 7.3% (95% confidence interval [CI], 6.1%-8.6%) overall and (from 13 studies including 1,100 screened families) per family was 23.6% (95% CI, 18.1%-29.5%). The prevalence of aortic dilatation among relatives (from 16 studies including 3,446 screened families) was 9.4% (95% CI, 5.7%-13.9%). Although the prevalence of aortic dilatation was higher in relatives with BAV (29.2%; 95% CI, 15.3%-45.1%) than in relatives with tricuspid aortic valve (7.0%; 95% CI, 3.2%-12.0% [risk ratio with BAV, 6.1; 95% CI, 3.4-10.8]), aortic dilatation among relatives with a tricuspid aortic valve was a more frequent finding because there were many more family members with a tricuspid valve than a BAV.


Screening family members of people with BAV can identify a cohort with a high prevalence of bicuspid valve, aortic enlargement, or both. The authors further discuss potential implications for screening programs, including current uncertainties regarding the clinical implications of aortic findings.


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.

Clinical Topics: Cardiovascular Care Team, Congenital Heart Disease and Pediatric Cardiology, Valvular Heart Disease, Vascular Medicine, Congenital Heart Disease, CHD and Pediatrics and Quality Improvement

Keywords: Aortic Diseases, Bicuspid Aortic Valve Disease, Diagnostic Screening Programs, Diagnostic Techniques, Cardiovascular, Dilatation, Dilatation, Pathologic, Family, Heart Defects, Congenital, Heart Valve Diseases, Mitral Valve, Risk, Tricuspid Valve

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