title: [Bicuspid aortic valve: epidemiology, genetics and clinics].
abstract: Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, affecting 1-2% of the general population. BAV is frequently associated with significant aortic pathology (valve regurgitation, endocarditis, severe aortic stenosis, aortic aneurysm and dissection) accounting for considerable morbidity and mortality. Despite its clinical relevance, the pathogenesis of BAV disease and its complications remain largely unknown. The purpose of this paper is to discuss and summarize our current understanding of BAV in terms of epidemiology, genetics and clinics.
authors.affiliation: Istituto di Fisiologia Clinica, Consiglio Nazionale delle Ricerche, Pisa, Massa. aitlamia@ifc.cnr.it
authors.forename: Lamia
authors.initials: L
authors.lastname: Ait-Ali
authors.forename: Ilenia
authors.initials: I
authors.lastname: Foffa
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Festa
authors.forename: Maria
authors.initials: M
authors.lastname: Graziaandreassi
mesh_terms: D000784:Aortic Dissection / Q000175:diagnosis / Q000235:genetics; D001014:Aortic Aneurysm / Q000175:diagnosis / Q000235:genetics; D001017:Aortic Coarctation / Q000175:diagnosis / Q000235:genetics; D001021:Aortic Valve / Q000002:abnormalities; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000235:genetics; D000082882:Bicuspid Aortic Valve Disease; D003937:Diagnosis, Differential; D004452:Echocardiography; D019317:Evidence-Based Medicine; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006349:Heart Valve Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D018810:Magnetic Resonance Angiography; D019028:Magnetic Resonance Imaging, Cine; D011237:Predictive Value of Tests; D015995:Prevalence; D012680:Sensitivity and Specificity