Family screening for bicuspid aortic valve and aortic dilatation: a meta-analysis

Abstract

Aims: International guidelines recommend screening of first-degree relatives (FDR) of people with bicuspid aortic valves (BAVs). However, the prevalence of BAV and of aortic dilatation amongst family members is uncertain.

Methods and results: A systematic review and meta-analysis of original reports of screening for BAV. Databases including MEDLINE, Embase, and Cochrane CENTRAL were searched from inception to December 2021 using relevant search terms. Data were sought on the screened prevalence of BAV and aortic dilatation. The protocol was specified prior to the searches being performed, and standard meta-analytic techniques were used. Twenty-three observational studies met inclusion criteria (n = 2297 index cases; n = 6054 screened relatives). The prevalence of BAV amongst relatives was 7.3% [95% confidence interval (CI) 6.1%-8.6%] overall and per family was 23.6% (95% CI 18.1%-29.5%). The prevalence of aortic dilatation amongst relatives was 9.4% (95% CI 5.7%-13.9%). Whilst the prevalence of aortic dilatation was particularly high in relatives with BAV (29.2%; 95% CI 15.3%-45.1%), aortic dilatation alongside tricuspid aortic valves was a more frequent finding, as there were many more family members with tricuspid valves than BAV. The prevalence estimate amongst relatives with tricuspid valves (7.0%; 95% CI 3.2%-12.0%) was higher than reported in the general population.

Conclusion: Screening family members of people with BAV can identify a cohort substantially enriched for the presence of bicuspid valve, aortic enlargement, or both. The implications for screening programmes are discussed, including in particular the substantial current uncertainties regarding the clinical implications of aortic findings.

Keywords: Aortic dilatation; Benefits vs. harms; Bicuspid aortic valve; First-degree relatives; Prevalence; Screening; UK National Screening Guidance.

Structured Graphical Abstract

Left: prevalence estimates from meta-analysis for identification of bicuspid aortic valves (BAV) in screened relatives and identification of an affected family with at least one individual with newly found BAV per families screened, in addition to prevalence estimates for aortic dilatation of screened relatives overall and specifically amongst individuals also identified to have BAV or tricuspid aortic valves. Right: a visual representation of the estimated proportions of each finding from pooled screening programmes, by individuals (above) and by families screened (below).

Figure 1

Flow diagram of Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

Figure 2

(A) Pooled prevalence of bicuspid aortic valve cases amongst screened relatives. (B) Pooled prevalence of screened families within which at least one additional case of bicuspid aortic valve was found in addition to the index case. BAV, bicuspid aortic valve.

Figure 3

(A) Pooled prevalence of aortic dilatation amongst screened relatives. (B) Pooled prevalence of aortic dilatation amongst screened relatives found to have a bicuspid aortic valve. (C) Pooled prevalence of aortic dilatation amongst screened relatives found to have a tricuspid aortic valve. Brackets in aortic location measured represent locations measured but not used in data presented. A, annulus; AA, ascending aorta; BAV, bicuspid aortic valve; CI, confidence interval; Root, aortic root; STJ, sinotubular junction; SV, sinus of Valsalva; TAV, tricuspid aortic valve.