Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives

Abstract

ObjectiveBicuspid aortic valve (BAV) is the most common congenital heart disease. This study aimed to determine the prevalence rate of BAV in first-degree relatives (FDR) and the inheritance pattern according to different morphotypes and aortic dilation.MethodsBAV probands were consecutively studied at eight tertiary referral centres. After sequential screening, FDR were included in the study. The BAV morphotype, aortic dilation and aortic phenotype were assessed by transthoracic echocardiography.ResultsSeven hundred and twenty-four FDR of 256 BAV probands agreed to undergo family screening. The prevalence of BAV was 6.4% in FDR (9.2% in men, 3.5% in women, p=0.002). Aortic dilation was diagnosed in 9.6% of FRD with tricuspid aortic valves (TAV), with a root phenotype in 2.7% and tubular in 6.9% and more frequently in the presence of arterial hypertension (OR 4.48; CI 95% 2.51 to 7.99; p=0.0001) and valvular regurgitation (OR 5.87, CI 95% 1.37 to 25.16; p=0.025). The heritability (h2 ) of BAV was highly significant (0.47; p=0.002); however, no concordance was observed among valve morphotypes. Aortic dilation heritability was not significant.ConclusionsThe BAV prevalence rate in FDR was low (6.4%) but aortic dilation was observed in 9.6% of FDR with TAV. The heritability of BAV was high without concordance in valve morphotypes, and aortic dilation heritability was not observed. Patients with BAV should be made aware of its familial pattern.

Heartbeat: Bicuspid aortic valve heritability and association with aortopathy

“…In this issue of Heart , Galian-Gay et al 1 found a BAV on echocardiographic screening in 6.5% of 724 first-degree relatives of 256 BAV patients, consistent with significant heritability although valve morphology was not concordant within families. In addition, 9.6% of relatives with a trileaflet valve were found to have aortic dilation, defined as 1.96 SD greater than expected for age, body size and sex (figure 1).…”

Familial bicuspid aortic valve disease: should we look more closely at the valve?

“…There are still important limitations of this study to keep in mind 6. First, this study has inherent selection bias due to cross-sectional design.…”

“…In their Heart  paper, Galian-Gay and colleagues report interesting data on familial BAV6: they have compiled data from a multicentre BAV registry on familial clustering and prevalence of BAV in FDR, on the impact of BAV morphological types and associated aortic dilation on the inheritance pattern. This study is the largest series of BAV families, including 256 BAV probands and 724 FDR.…”

“…Another important aspect of this study is related to the aortic dilation in FDR 6. Prevalence of aortic dilation, in this relatively young population (mean age of 42 years), was high and, as expected much more important in FDR with BAV than FDR with TAV: there was a fivefold higher occurrence of aortic dilation defined by Z-score (47.8% vs 9.6%; p=0.001), with a predominance at the tubular level as opposed to the root.…”

Mitral valve prolapse, a familial condition worth screening for?

“…Proposed screening algorithm in MVP first-degree relatives (FDR). TTE: transthoracic echocardiography; VT: ventricular tachycardia; SCD: sudden cardiac death <65 years of age 1. Connective tissue diseases and other syndromes (Le Thourneau et al13 provide an overview) 2.…”