Nasljedne bolesti srčanih transmembranskih kanala

master's thesis

• Title (english): Hereditary disease of heart transmembrane channels
• Author: Vito Mustapić
• Mentor: Davor Puljević (mentor)
• Committee member: Martina Lovrić-Benčić (predsjednik povjerenstva)
• Committee member: Jasenka Markeljević (član povjerenstva)
• Committee member: Davor Puljević (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2016-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Nasljedne bolesti srčanih transmembranskih kanala uzrokovane su disfunkcijom ionskih kanala u srcu. Poremećaj se može očitovati na razini natrijskih, kalijskih ili kalcijskih kanala. Klinička slika može varirati od potpuno asimptomatske pa sve do nagle srčane smrti. Gotovo 10% svih naglih srčanih smrti uzrok ima u bolestima srčanih transmembranskih kanala. Prepoznavanje asimptomatskih bolesnika prije pojave prvih simptoma ključni je korak u prevenciji fatalnog ishoda budući da je najčešće zahvaćena mlada, naizgled zdrava populacija. U skupinu nasljednih bolesti srčanih transmembranskih kanala ubrajamo: dugi QT sindrom (LQTS), kratki QT sindrom (SQTS), Brugada sindrom (BrS), katekolaminergičku polimorfnu ventrikularnu tahikardiju (CPVT) i rani repolarizacijski sindrom (ERS).
Ova skupina bolesti je privukla veliku pažnju stručnjaka proteklih godina te su napravljeni značajni pomaci u njihovoj dijagnostici, stratifikaciji rizika kao i opcijama liječenja. Iako pojedinačno rijetke, zajedno čine značajnu skupinu bolesti s potencijalno letalnim ishodom zbog čega nam se nameće potreba za daljnjim istraživanjima te donošenjem jedinstvenih smjernica na ovom području.

Abstract (english)

Inherited cardiac transmembrane channel diseases are caused by the dysfunction of ion channels in the heart. The disorder can manifest itself at the level of sodium, potassium or calcium channels. The clinical presentation may vary in a wider range from completely asymptomatic to sudden cardiac death. Almost 10% of all sudden cardiac deaths are caused by one of inherited cardiac transmembrane channel diseases. Identifying asymptomatic patients before the onset of symptoms is a key step in the prevention of fatal outcome, since it usually affects young, seemingly healthy, population. In the group of inherited cardiac transmembrane channel diseases we include long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BRS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and early repolarization syndrome (ERS). This group of diseases has attracted great attention of specialists in recent years and have made significant progress in their diagnosis, risk stratification and treatment options. Although individually rare, together they form a sizeable group of diseases with potentially lethal outcome, which is why there is a great need for further research and the adoption of uniform guidelines in this area.

• Keywords: primarne kanalopatije; nagla srčana smrt
• Keywords (english): primary channelopathies; sudden cardiac death
• Language: croatian
• URN:NBN: urn:nbn:hr:105:880359
• 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: 2017-07-04 10:18:32