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

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...

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Bibliographic Details
Published in:Heart (British Cardiac Society) Vol. 105; no. 8; pp. 603 - 608
Main Authors: Galian-Gay, Laura, Carro Hevia, Amelia, Teixido-Turà, Gisela, Rodríguez Palomares, José, Gutiérrez-Moreno, Laura, Maldonado, Giuliana, Gonzàlez-Alujas, María Teresa, Sao-Aviles, Augusto, Gallego, Pastora, Calvo-Iglesias, Francisco, Bermejo, Javier, Robledo-Carmona, Juan, Sánchez, Violeta, Saura, Daniel, Sevilla, Teresa, Burillo-Sanz, Sergio, Guala, Andrea, Garcia-Dorado, David, Evangelista, Arturo, Granato, Chiara, Castro, Mireya, Blanco, Elisa, Del villar, Candelas Pérez, Mansilla, Ana González, Mombiela, Teresa, Prieto, Raquel, Vázquez, Maria Eugenia, Espinosa, M Angeles, Yotti, Raquel, Rodríguez-Bailón, Isabel, Chaverri, Adriana Rodríguez, Delgado Jiménez, Juan Francisco, García-Aranda, Beatriz
Format: Journal Article
Language:English
Published: England BMJ Publishing Group Ltd and British Cardiovascular Society 01.04.2019
BMJ Publishing Group LTD
Subjects:
Adult
Aorta - abnormalities
Aorta - diagnostic imaging
Aorta - pathology
aortic and arterial disease
Aortic Diseases - diagnosis
Aortic Diseases - etiology
Aortic Diseases - physiopathology
Aortic Valve - abnormalities
Aortic Valve - physiopathology
bicuspid aortic valve
Bicuspid Aortic Valve Disease
Biological Variation, Population
clinical genetics
Cluster Analysis
Coronary vessels
Dilatation, Pathologic - diagnostic imaging
Dilatation, Pathologic - etiology
Dilatation, Pathologic - physiopathology
Disease
echocardiography
Echocardiography - methods
Families & family life
Family
Family Health - statistics & numerical data
Female
Heart
Heart Valve Diseases - complications
Heart Valve Diseases - diagnosis
Heart Valve Diseases - epidemiology
Heart Valve Diseases - physiopathology
Humans
Inheritance Patterns
Male
Middle Aged
Morphology
Pedigree
Prevalence
Sequence Analysis - methods
Spain - epidemiology
Studies
Valvular heart disease
Variables
Spain
aortic and arterial disease
bicuspid aortic valve
clinical genetics
echocardiography
ISSN:1355-6037, 1468-201X, 1468-201X
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Summary: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.
Bibliography:Original research article
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ISSN:1355-6037
1468-201X
1468-201X
DOI:10.1136/heartjnl-2018-313802