Aortopathy and regurgitation in bicuspid valve patients increase the risk of aortopathy in relatives Victor Dayan a, ⁎ ,1 , Ana Zuasnabar a,1 , Rodolfo Citro b,1 , Eduardo Bossone b,1 , Hector I. Michelena c,1 , Gabriel Parma a,1 , Michele Bellino b,1 , Alicia Olascoaga d,1 , Lucia Florio a,1 , Simon Body e,1 , Bicuspid Aortic Valve Consortium – BAVCON a Centro Cardiovascular Universitario, Hospital de Clinicas, Universidad de la República, Montevideo, Uruguay b Heart Department, University Hospital “San Giovanni di Dio e Ruggi d'Aragona”, Salerno, Italy c Department of Cardiovascular Medicine, Mayo Clinic, Rochester, United States of America d Departamento de Laboratorio Clinico, Hospital de Clínicas, Universidad de la Republica, Montevideo, Uruguay e Department of Anesthesia, Critical Care & Pain Medicine, Beth Israel Deaconess Medical Center, Boston, United States of America abstract article info Article history: Received 31 October 2018 Received in revised form 12 February 2019 Accepted 15 March 2019 Available online xxxx 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 b 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 b 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. © 2019 Elsevier B.V. All rights reserved. Keywords: Bicuspid aortic valve Aorta Aneurysm 1. Introduction Bicuspid aortic valve (BAV) is the most frequent cardiac congenital valvular disease with an incidence of 0.5–2% [1]. Patients with BAV have increased risk of requiring surgery during their lifetime for aortic valve dysfunction or aortic dilatation [2,3]. First degree relatives (FDR) are at increased risk for acquiring BAV or aortopathy [4,5]. Although the risk for a FDR to have BAV has been assessed (7–9%), there is limited information as to the risk for aortopathy [6]. Previous data have shown that the incidence of aortopathy in tricuspid aortic valve (TAV) FDR of patients with BAV was 32% [4]. However, our group has previously shown that FDR of BAV probands without aortopathy have similar ascending and root aortic diameters than control patients [7]. Thus, there is no conclusive evidence regarding the aortopathy risk of FDR (of BAV patients) with TAV (TAV-FDR). We hypothesize that the aorta phenotypes and valvular function of BAV probands may associate with the risk of their TAV-FDR developing aortopathy and serve as clinical markers to identify TAV-FDR at higher risk that may require evaluation and monitoring. Our main objective was to evaluate if the risk for aortopathy in TAV- FDR varied according to the presence or absence of aortopathy (root or ascending aorta) in their probands. Secondarily we evaluated the risk for aortopathy in TAV-FDR according to the presence of valve dysfunc- tion in probands. International Journal of Cardiology xxx (xxxx) xxx ⁎ Corresponding author at: 26 de Marzo 3459/602, Montevideo, Uruguay. E-mail address: victor_dayan@hotmail.com (V. Dayan). 1 This author takes responsibility for all aspects of the reliability and freedom from bias of the data presented and their discussed interpretation. IJCA-27531; No of Pages 4 https://doi.org/10.1016/j.ijcard.2019.03.031 0167-5273/© 2019 Elsevier B.V. All rights reserved. Contents lists available at ScienceDirect International Journal of Cardiology journal homepage: www.elsevier.com/locate/ijcard Please cite this article as: V. Dayan, A. Zuasnabar, R. Citro, et al., Aortopathy and regurgitation in bicuspid valve patients increase the risk of aortopathy in relatives, International Journal of Cardiology, https://doi.org/10.1016/j.ijcard.2019.03.031