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Bicuspid aortic valve

ORPHA1244
Synonym(s) -
Prevalence >1 / 1000
Inheritance Not applicable
or Autosomal dominant
Age of onset -
ICD-10
  • Q23.1
OMIM -
UMLS
  • C0149630
MeSH -
MedDRA
  • 10004552

Summary

Bicuspid aortic valve is the most common congenital heart defect of sporadic inheritance characterized by an aortic valve with only two leaflets, that can be associated with aortic (coarctation, dilation), cardiac (ventricular septal defects, patent ductus arteriosus), or coronary artery anomalies, leading to functionally normal, stenotic or incompetent aortic valves and aortopathy. The clinical presentation of BAV can range from severe disease found in utero to asymptomatic disease with complications arising later in life that include valvular stenosis or incompetence, aortopathy (aortic dilatation, aneurysm formation and dissection) and infectious endocarditis. BAV can also be familial (familial bicuspid aortic valve, see this term) and as a feature of Turner syndrome, Shone complex and William's syndrome (see these terms).


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Detailed information

Review article
  • EN (2005,pdf)
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