Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

Background. Bicuspid aortic valve (BAV) is a common congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant pattern of inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated...

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Veröffentlicht in:	BioMed research international 2018-01, Vol.2018 (2018), p.1-9
Hauptverfasser:	Giusti, Betti, Nistri, Stefano, Provenzano, Aldesia, Giglio, Sabrina, Magi, Alberto, De Cario, Rosina, Sticchi, Elena, Pepe, Guglielmina
Format:	Artikel
Sprache:	eng
Schlagworte:	Abdomen Aneurysms Aorta Aortic valve Aortic Valve - abnormalities Bicuspid Aortic Valve Disease Congenital diseases Congenital heart disease Coronary vessels Diagnosis Dilatation, Pathologic Dissection Ethylenediaminetetraacetic acid Fibrillin-1 - genetics Gene sequencing Genes Genetic aspects Genetic counseling Genetic diversity Genetic screening Genetic Variation Heart Heart valve diseases Heart Valve Diseases - genetics Heredity High-Throughput Nucleotide Sequencing Humans Italy Male Marfan syndrome Middle Aged Mutation Patients Phenotype Phenotypes Population Receptor, Notch1 - genetics Surgery Thoracic surgery Thorax Vascular surgery
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