Kardiovaskularne bolesti u osoba s Turnerovim sindromom

master's thesis

• Title (english): Cardiovascular diseases in Turner syndrome
• Author: Monika Tokić
• Mentor: Darko Anić (mentor)
• Committee member: Kristina Marić Bešić (predsjednik povjerenstva)
• Committee member: Tomislav Meštrović (član povjerenstva)
• Committee member: Darko Anić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Surgery); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Surgery

Abstract

Turnerov je sindrom kromosomopatija koja se javlja u žena, a kod koje je prisutan samo jedan normalan X kromosom, dok drugi ili nedostaje ili je strukturno promijenjen. Navedena abnormalnost može biti prisutna u svim ili jednom dijelu stanica. Ovisno o kariotipu postoje brojne različite fenotipske manifestacije ovog sindroma, no ono što im je svima zajedničko jest nizak rast i manjak estrogena. Kao glavni uzrok velikog morbiditeta i mortaliteta ističu se kardiovaskularne bolesti. Iako je relativni rizik za većinu prirođenih srčanih greški puno veći u odnosu na opću populaciju, prema prevalenciji se izdvajaju bikuspidna aortna valvula i koarktacija aorte. Navedene srčane greške često se javljaju zajedno, a zbog promijenjene hemodinamike predstavljaju čimbenik rizika za razvoj mnogih drugih kardiovaskularnih bolesti, među kojima je i disekcija aorte. Disekcija aorte, osim što je puno češća, pogađa osobe mlađe životne dobi nego što je to slučaj u općoj populaciji. Dodatni čimbenici rizika za njen razvoj su dilatacija aorte, hipertenzija i monosomija kromosoma X. S obzirom da dilatacija aorte ima dobru prediktivnu vrijednost za njen nastanak, procjena rizika od disekcije temelji se na mjerenju promjera aorte. O procjenjenom riziku ne ovisi samo daljnje liječenje, nego i odluke koje se tiču trudnoće i bavljenja sportom. U odnosu na opću populaciju povećana je i prevalencija metaboličkog sindroma. Pojedine njegove komponente prisutne su već u dječjoj dobi. Posljedica toga je prijevremena ateroskleroza koja nosi rizik za razvoj ishemijske bolesti srca i cerebrovaskularnih incidenata. Nerijetko se dogodi da se dijagnoza Turnerovog sindroma postavi tek u doba puberteta ili se čak uopće ne postavi. Kasna dijagnoza u kombinaciji s nedostatnim praćenjem dijagnosticiranih osoba razlog su zašto mnoga od opisanih patoloških stanja ostanu nezamijećena i neliječena, a što onda za posljedicu ima veliki morbiditet i mortalitet.

Abstract (english)

Turner syndrome is a chromosomal disorder that occurs in women, in which only one normal X chromosome is present, while the other is either missing or structurally altered. This abnormality can be present in all or one part of the cells. Depending on the karyotype, there are numerous different phenotypic manifestations of this syndrome, but what they all have in common is low growth and estrogen deficiency. Cardiovascular diseases stand out as the main cause of high morbidity and mortality. Although the relative risk for most congenital heart defects is much higher compared to the general population, bicuspid aortic valve and coarctation of the aorta stand out according to prevalence. The aforementioned heart defects often occur together and, due to altered hemodynamics, they represent a risk factor for the development of many other cardiovascular diseases, including aortic dissection. Aortic dissection, besides being much more common, affects people at a younger age than in the general population. Additional risk factors for its development are dilatation of the aorta, hypertension and monosomy of the X chromosome. Given that aortic dilatation has a good predictive value for its occurrence, the assessment of the risk of dissection is based on the measurement of the aortic diameter. Not only does further treatment depend on the assessed risk, but also decisions regarding pregnancy and playing sports. Compared to the general population, the prevalence of metabolic syndrome is also increased. Some of its components are already present in childhood. The result is premature atherosclerosis, which carries a risk for the development of ischemic heart disease and cerebrovascular incidents. It often happens that the diagnosis of Turner's syndrome is not made until puberty, or not even made at all. Late diagnosis combined with insufficient follow-up of diagnosed persons is the reason why many of the described pathological conditions remain unnoticed and untreated, which then results in the high rates of morbidity and mortality.

• Keywords: Turnerov sindrom; prirođene srčane greške; dilatacija aorte; disekcija aorte
• Keywords (english): Turner syndrome; congenital heart defects; aortic dilatation; aortic dissection
• Language: croatian
• URN:NBN: urn:nbn:hr:105:028038
• 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: 2023-11-02 11:00:13