Kliničke manifestacije i dijagnostika aritmogene displazije desnog ventrikula

master's thesis

• Title (english): Clinical manifestations and diagnostics of arrhythmogenic right ventricular dysplasia
• Author: Matea Živko
• Mentor: Nikola Bulj (mentor)
• Committee member: Matias Trbušić (predsjednik povjerenstva)
• Committee member: Boško Skorić (član povjerenstva)
• Committee member: Nikola Bulj (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Internal Medicine); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Internal Medicine

Abstract

Aritmogena displazija desnog ventrikula je nasljedna, progresivna i nepredvidiva bolest srčanog mišića koja se često dijagnosticira nakon iznenadne srčane smrti pacijenta. Bolest je uvrštena u klasifikaciju kardiomiopatija. Češće zahvaća muškarce nego žene, a pojavnost simptoma je najviša u mlađoj odrasloj dobi. Patohistološki se radi o programiranoj smrti srčanih mišićnih stanica koje bivaju nadomještene fibrozno-masnim tkivom. Bolest najčešće zahvaća desni ventrikul, no može započeti i u lijevom ventrikulu te obostrano. Genetske dezmosomalne mutacije nasljeđuju se uglavnom autosomalno dominantno i povezane su s razvojem bolesti. Klinička slika obuhvaća sinkope, palpitacije, pojavu aritmija te iznenadnu srčanu smrt. U dijagnostici bolesti koriste se Task Force dijagnostički kriteriji koji obuhvaćaju 2D ehokardiografiju, kardiovaskularni MR, desnostranu ventrikulografiju, elektrokardiogram, biopsiju s histološkom analizom srčanog mišića i obiteljsku anamnezu s genetskim testiranjem. Potrebno je uzeti u obzir i diferencijalnu dijagnostiku, posebice sarkoidozu srca, miokarditis te Burgadin sindrom koji kliničkom slikom nalikuju na ADDV. Liječenje bolesti predstavlja veliki izazov. Presudna je modifikacija stila života u vidu zabrane tjelesnog napora, kao i druge terapijske metode, ovisno o kliničkoj slici. Koriste se kateterska ablacija, farmakoterapija te ugradnja implantabilnog kardioverter defibrilatora u svrhu primarne ili sekundarne prevencije iznenadne srčane smrti. Translacijske metode liječenja su budućnost kod pacijenata s ADDV-om, ali potrebno je još mnogo istraživanja da bi ušle u kliničku praksu.

Abstract (english)

Arrhythmogenic right ventricular dysplasia is a hereditary, progressive and unpredictable disease of the heart muscle that is often diagnosed after a patient's sudden cardiac death. The disease is classified as a cardiomyopathy. It affects men more often than women, and the incidence of symptoms is highest in young adulthood. Pathohistologically, it is the programmed death of cardiac muscle cells that are replaced by fibrous-fatty tissue. The disease most often affects the right ventricle, but it can also start in the left ventricle and bilaterally. Genetic desmosomal mutations are inherited mainly in an autosomal dominant manner and are associated with the development of the disease. The clinical presentation includes syncope, palpitations, arrhythmias and sudden cardiac death. In the diagnosis of the disease, the Task Force diagnostic criteria are used, which include 2D echocardiography, cardiovascular MR, right-sided ventriculography, electrocardiogram, biopsy with histological analysis of the heart muscle and family history with genetic testing. It is also necessary to consider the differential diagnosis, especially cardiac sarcoidosis, myocarditis and Burgada syndrome, which resemble arrhythmogenic right ventricular dysplasia in their clinical picture. Treating the disease is a big challenge. It is crucial to modify the lifestyle in the form of a ban on physical exertion, as well as other therapeutic methods, depending on the clinical findings. Catheter ablation, pharmacotherapy and implantation of an implantable cardioverter defibrillator are used for primary or secondary prevention of sudden cardiac death. Translational treatment methods are the future in patients with arrhythmogenic right ventricular dysplasia, but much more research is needed for it to enter clinical practice.

• Keywords: aritmogena displazija desnog ventrikula; dezmosomi; implantabilni kardioverter defibrilator; iznenadna srčana smrt; kardiomiopatija; Task Force dijagnostički kriteriji
• Keywords (english): arrhythmogenic right ventricular dysplasia; cardiomyopathy; desmosomes; implantable cardioverter defibrillator; sudden cardiac death; Task Force diagnostic criteria
• Language: croatian
• URN:NBN: urn:nbn:hr:105:407866
• 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 12:44:46