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...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Heart (British Cardiac Society) Ročník 105; číslo 8; s. 603 - 608
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England BMJ Publishing Group Ltd and British Cardiovascular Society 01.04.2019 BMJ Publishing Group LTD
Témata:	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
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Popis
Shrnutí:	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.
Bibliografie:	Original research article ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	1355-6037 1468-201X 1468-201X
DOI:	10.1136/heartjnl-2018-313802