Prirođene srčane grješke u djece s di George sindromom

master's thesis

• Title (english): Congenital heart disease in children with DiGeorge syndrome
• Author: Nikolina Rokov
• Mentor: Daniel Dilber (mentor)
• Committee member: Ruža Grizelj (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Daniel Dilber (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2017-07-14, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Prirođene srčane grješke prisutne su u 1% živorođene djece. U djece sa DiGeorgeovim sindromom prisutne su u čak 75-80% djece. Najčešće su konotrunkalne anomalije, od kojih su najčešći defekti subaortni ventrikulski defekt, Fallotova tetralogija, pulmonalna atrezija s VSD-om, truncus arteriosus i prekinuti aortni luk. Za razvoj ovog izlaznog dijela srca bitna je funkcija neuralnog grebena i razvoj trećeg i četvrtog škržnog luka koji je poremećen u ovom sindromu. Zbog toga, djeca sa DGS imaju i aplaziju ili hipoplaziju timusa, rascjepe nepca, dismorfije lica te poremećaj u razvitku štitnih i doštititnih žlijezda. Genetska podloga ovom sindroma leži u deleciji na 22 kromosomu, regija 22q11.2. DGS se zna pojavljivati u više generacija u obitelji pa je u takvim slučajevima bitno provesti genetsko savjetovanje. Kod sve djece sa DGS pri rođenju treba tragati za prirođenim srčanim grješkama jer su one uz hipokalcijemiju najčešći razlog pobolijevanja i smrtnosti. Zlatni standard dijagnostike PSG danas je kateterizacija srca, ali s druge strane najčešće je za dijagnozu dovoljna ehokardiografija. Kardiokirurško liječenje prirođenih srčanih grješaka danas je napredovalo i znatno smanjilo mortalitet u ove djece. S obzirom na genetsku podlogu i različite malformacije koje prate djecu sa DGS nužna je suradnja stručnjaka iz različitih područja da bi se ovoj djeci pružila najbolja moguća skrb te da bi im se omogućio kvalitetan život.

Abstract (english)

Congenital heart disease is a common disease present in 1-2 % of newborn children. 75-80% of children with DiGeorge syndrome are affected by it. The most common defects are conotruncal anomalities, among which the most common are tetralogy of Fallot, pulmonary atresia with VSD, truncus arteriosus and interrupted aortic branch. The neural crest cells have the most important role in the development of outflow region of the heart, as well as the development of the third and fourth pharyngeal arches that are affected in this syndrome. Due to this fact, children with DGS also have aplasia or hypoplasia of the thymus, cleft palate, face dysmorphia and a disorder in the development of the thyroid and parathyroid glands. This disease is genetically caused by a deletion on the twenty-second chromosome, region 22q11.2. DGS is known to appear in following generations, so it is important to provide genetic counseling. It is neccesary to search for congenital heart defects in children with DGS, because they are, along with hypocalcemia, the most common causes of death. Catheterization of the heart is the best available diagnostic tool, but echocardiography is more frequently used because it is non-invasive and very simple method. Cardiosurgical therapy of PGS has advanced and thus decreased mortality in these children. Taking into consideration genetics and the various malformations that affect these children, it is necessary that experts from diffrent areas collaborate in order to offer the best possible care and thus raise the quality of patients' lives.

• Keywords: prirođene srčane grješke; di Georgeov sindrom; kromosomopatija
• Keywords (english): heart defects; congenital; chromosome aberrations; DiGeorge syndrome
• Language: croatian
• URN:NBN: urn:nbn:hr:105:061740
• 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: 2017-10-23 12:53:42