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Сімейний двостулковий аортальний клапан

ORPHA:402075· ICD-10 Q23.1· Familial bicuspid aortic valve

Визначення(English summary)

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Успадкування
Autosomal dominant
Вік початку
Infancy, Neonatal