Aortopathy and regurgitation in bicuspid valve patients increase the risk of aortopathy in relatives.

BACKGROUND: Bicuspid aortic valve (BAV) is the most frequent cardiac congenital valvular disease. Although the BAV risk of first degree relatives (FDR) has been assessed (7-9%), there is little information as to the heritable risk for aortopathy. OBJECTIVE: Identify the specific risk for regional aortopathy in FDR with tricuspid aortic valve (TAV) of BAV patients according to their aortic phenotype and aortic regurgitation (AR). METHODS: Using an international consortium, BAV probands were assessed for aortopathy of the root, ascending aorta and for AR. Aortopathy was defined by the presence of segmental dilatation. The presence of segmental aortopathy and AR in BAV probands was evaluated as predictor for aortopathy in FDR with TAV. RESULTS: We identified 74 FDR related to 49 probands with aortopathy and 66 FDR related to 31 probands without aortopathy. Demographic variables were similar between proband groups. Among FDR, 16 individuals had BAV (11.4%). TAV-FDR of probands with ascending aortopathy had higher incidence of root aortopathy (18.8% vs. 3.6% p < 0.05) while TAV-FDR of probands with root aortopathy had higher incidence of aortopathy at all aortic segments (55%vs25%, 55%vs21%, and 4%vs29% at annulus, root and ascending respectively, p < 0.05 for all). Independent predictors for root aortopathy in TAV-FDR were: ascending (OR = 6.23;95%CI:1.27-30.5) and root aortopathy (OR = 9.00;95%CI:1.58-51.1) in probands; and for ascending aortopathy: root aortopathy (OR = 4.04;95%CI:1.33-12.3) and AR in probands (OR = 4.84; 95%CI:1.75-13.4). CONCLUSION: Root and ascending aortopathy in BAV probands are strong predictors of aortopathy in their TAV-FDR. AR in BAV patients has an independent effect on the risk for ascending aortopathy in TAV-FDR.