RT Journal Article
T1 Familial clustering of bicuspid aortic valve and its relationship with aortic dilation in first-degree relatives.
A1 Galian-Gay, Laura
A1 Carro Hevia, Amelia
A1 Teixido-Turà, Gisela
A1 Rodríguez Palomares, José
A1 Gutiérrez-Moreno, Laura
A1 Maldonado, Giuliana
A1 Gonzàlez-Alujas, María Teresa
A1 Sao-Aviles, Augusto
A1 Gallego, Pastora
A1 Calvo-Iglesias, Francisco
A1 Bermejo, Javier
A1 Robledo-Carmona, Juan
A1 Sánchez, Violeta
A1 Saura, Daniel
A1 Sevilla, Teresa
A1 Burillo-Sanz, Sergio
A1 Guala, Andrea
A1 Garcia-Dorado, David
A1 Evangelista, Arturo
A1 BICUSPID investigators, 
K1 aortic and arterial disease
K1 bicuspid aortic valve
K1 clinical genetics
K1 echocardiography
AB Bicuspid 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. BAV 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. Seven 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. The 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.
YR 2018
FD 2018-10-15
LK http://hdl.handle.net/10668/13087
UL http://hdl.handle.net/10668/13087
LA en
DS RISalud
RD Apr 10, 2025