Epidemiologija i klinička očitovanja osoba s bikuspidnom aortnom valvulom

master's thesis

• Title (english): Epidemiology and clinical features of bicuspid aortic valve patients
• Author: Martina Bukovac
• Mentor: Nikola Bulj (mentor)
• Committee member: Diana Delić-Brkljačić (predsjednik povjerenstva)
• Committee member: Martina Lovrić Benčić (član povjerenstva)
• Committee member: Nikola Bulj (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2017-07-14, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Bikuspidna aortna valvula (BAV) najčešća je kongenitalna srčana greška s prevalencijom od otprilike 1 na 100 osoba u općoj populaciji. BAV čine dva kuspisa nejednake veličine umjesto tri jednaka kuspisa normalne trikuspidne aortne valvule. Najčešće se javlja sporadično, ali se može javiti i kao autosomno dominantna bolest s varijabilnom penetracijom ili kao element u nekim genetskim sindromima. Klinička slika može biti asimptomatska s normalnom funkcijom aortne valvule i aorte, ali su pacijenti s BAV-om češće skloni ranoj degeneraciji i posljedičnoj disfunkciji valvule, većinom u obliku aortne stenoze ili aortne regurgitacije. Također su često pridružene bolesti aorte poput dilatacije i disekcije korijena i uzlazne aorte, zbog čega se sve više rabe pojmovi sindrom bikuspidne aortne valvule i bikuspidna aortopatija. Dijagnoza se postavlja ehokardiografskom vizualizacijom BAV-a uz procjenu morfologije i funkcionalnog statusa aortne valvule i aorte. Najnovije smjernice preporučuju ehokardiografski probir svih srodnika u prvom koljenu pacijenata s BAV-om ili pridruženom aortopatijom. BAV predstavlja veliki teret na kardiovaskularnu medicinu, obzirom na veliku prevalenciju, sklonost razvoju teških komplikacija te rastućoj potrebi za kirurškim intervencijama u većini pacijenata.

Abstract (english)

Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of about 1 out of 100 people in the general population. BAV generally consists of two unequal-sized cusps instead of three cusps in the normal tricuspid aortic valve. Typically it occurs sporadically but may also occur as an autosomal dominant inherited disease with variable penetrance, and is also an element in some genetic syndromes. The clinical manifestation can be asymptomatic with a normally functioning aortic valve and aorta, but BAV patients are more commonly subjected to early degeneration and subsequent valve dysfunction, mostly in the form of an aortic stenosis or aortic regurgitation. It is also often associated with diseases of the aorta such as dilatation and dissection of the root and ascending aorta, which is why the terms bicuspid aortic valve syndrome and bicuspid aortic valve aortopathy are more frequently used. The diagnosis is based on an echocardiographic visualization of the BAV with an estimate of the morphology and functional status of the valve and aorta. The newest guidelines propose an echocardiographic screening for all first-degree relatives of patients with BAV disease or associated aortopathy. BAV is considered a large burden on cardiovascular care, due to its large prevalence as well as its predisposition of generating severe complications and the growing need for surgical interventions in most patients.

• Keywords: bikuspidna aortna valvula; sindrom bikuspidne aortne valvule; bikuspidna aortopatija; prevalencija
• Keywords (english): bicuspid aortic valve; bicuspid aortic valve syndrome; bicuspid aortopathy; prevalence
• Language: croatian
• URN:NBN: urn:nbn:hr:105:794647
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-11-22 13:43:27