Arrhythmogenic right ventricular cardiomyopathy

Aritmogena kardiomiopatija desne klijetke (ARVC) rijetka je progresivna autosomno-dominantna genska bolest karakterizirana strukturnim nepravilnostima desne klijetke te pojavom aritmija mehanizma kruženja. Unutar više od 140 različitih mutacija gena najznačajnije su one za proteine interkaliranih diskova te dezmosoma miokarda. Degeneracija i smrt miocita, koje nastaju zbog poremećena rasta i diferencijacije miocita, najočitije su u području trokuta displazije, a očituju se vrlo nespecifičnim simptomima. Aritmije nastale zbog ARVC-a smatraju se glavnim uzrokom smrti u osoba mlađih od 40 godina. Budući da postoje brojne druge bolesti koje nalikuju na ARVC, njegova se dijagnoza postavlja na temelju kombinacije zadovoljavanja uvjeta kriterija radne skupine te nalaza magnetne rezonancije, biopsije srca i ehokardiografije. Unatoč svim dijagnostičkim kriterijima, više od 50 % pravih ARVC-a i dalje ostaje neadekvatno dijagnosticirano. Upravo zbog te činjenice asimptomatskim sportašima s pozitivnom obiteljskom anamnezom savjetuje se detaljno i učestalo praćenje zdravstvenoga stanja od rane životne dobi. Glavni cilj liječenja ARVC-a jest prevencija iznenadne srčane smrti. U medikamentnoj terapiji prednost se i dalje daje sotalolu te amiodaronu u svrhu prevencije razvoja malignih aritmija. Uz vrlo visok rizik od nastanka takvih aritmija bolesnicima je u primarnoj prevenciji apsolutno indicirana ugradnja kardioverterskih defibrilatora. Uspješnost radiofrekventne ablacije u ovoj bolesti niža je zbog učestale pojave novih žarišta aritmije uzrokovanih masno fibroznim promjenama miokarda te se smatra palijativnom metodom liječenja. Definitivno izlječenje ove bolesti može se postići isključivo transplantacijom srca.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare progressive autosomal dominant genetic disease characterized by structural abnormalities of the right ventricle of the heart and the appearance of the reentry type arrhythmias. Of the 140 different genetic mutations, the most significant are those related to proteins in the intercalated discs and myocardial desmosomes. Myocyte degeneration and death, which are caused by disrupted myocyte growth and differentiation, are most obvious in the triangle of dysplasia and result in very non-specific symptoms. Arrhythmias caused by ARVC are considered the main cause of death in persons below 40 years of age. Since there are numerous other diseases that resemble ARVC, the diagnosis of ARVC is established based on a combination of fulfilling the working group criteria and magnetic resonance imaging, heart biopsy, and echocardiography findings. Despite all the diagnostic criteria, more than 50% of real ARVC cases remain inadequately diagnosed. This is why detailed and frequent health checkups from an early age are recommended in asymptomatic athletes with family history positive for ARVC. The main goal of treatment is the prevention of sudden cardiac death. Sotalol and amiodarone are favored in medication therapy, with the goal of preventing the development of malignant arrhythmias. In patients with a very high risk of such arrhythmias the implantation of a cardioverter defibrillator is absolutely indicated as part of primary prevention. The successfulness of radiofrequency ablation is lower in this disease due to the frequent appearance of new arrhythmic foci caused by fatty fibrotic changes in the myocardium and is considered a palliative treatment method. Definitive treatment for this diseases can be achieved only through heart transplantation.