Aritmogena kardiomiopatija desne klijetke – jesmo li suvremenim dijagnostičkim i terapijskim pristupom izbjegli tragediju u obitelji?

Scientific paper - Original scientific paper

• Title (english): Right ventricular arrhytmogenic cardiomyopathy – have we avoided a family tragedy by applying contemporary diagnostic and treatment approach?
• Author: Ivan Malčić
• Author: Hrvoje Kniewald
• Author: Višnja Tokić Pivac
• Author: Dražen Jelašić
• Author: Bruno Buljević
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

Introduction: Arrhytmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized
by fi brofatty replacement, dominantly in the right, but often also in the left ventricle. It is a signifi cant cause of
sudden death in children and adolescents. A thorough family history and contemporary diagnostic and treatment approach
are prerequisites for the prevention of the sudden death syndrome. The diagnosis is more often established in adults than in
children. Patients: We present a family with four members affected and diagnosed with ARVC already in childhood/adolescence.
The average age of symptom presentation was 12 years (10–14 years). The importance of family tree isemphasized
and contemporary diagnostic and treatment methods, with the aim of sudden death prevention, are described. Conclusions:
Family history is essential for the early ARVC diagnosis. There is a need for revision of current diagnostic criteria in
pediatric population. In the future progression of fi brous tissue proportion in relation to age and the stage of the disease
should be taken in account. Furthermore, the repolarisation abnormality is inappropriate as a criterion in children less than
14 years old, so in that age group less of present diagnostic criteria can be applied. A combination of modern implantable
cardioverter defi brillator and radiofrequency ablation assures an excellent life quality in our patients. However, the longterm
prognosis for our patients, because of a progressive course of the disease, remains uncertain.

Abstract (croatian)

Uvod: Aritmogena kardiomiopatija desne klijetke (engl. Arrhythmogenic right ventricular cardiomyopathy – ARVC) nasljedna je kardiomiopatija karakterizirana pretvorbom miocita u masno i vezivno tkivo, pretežno desne, no ­nerijetko i lijeve klijetke. Važan je uzrok iznenadne smrti djece i adolescenata. Temeljita obiteljska anamneza i suvremeni dijagnostički i terapijski pristup preduvjeti su za sprečavanje sindroma iznenadne smrti. Češće se dijagnoza postavlja u odraslih nego u djece. Prikaz bolesnika: Prikazujemo obitelj u kojoj je u četvero članova postavljena dijagnoza ARVC-a već u dječjoj/adolescentnoj dobi. Prosječna dob pojave simptoma kod tih bolesnika bila je 12 godina (10 – 14). Ističe se važnost obiteljskog stabla i opisuju se suvremene metode dijagnosticiranja i terapijskog pristupa, radi prevencije iznenadne smrti. Zaključujemo da je obiteljska anamneza temelj za rano postavljanje dijagnoze ARVC-a. Nazire se potreba revizije postojećih dijagnostičkih kriterija ARVC-a za pedijatrijsku populaciju. Valjalo bi uzeti u obzir progresivno povećanje ­udjela veziva u odnosu prema miocitima u ovisnosti o dobi i stadiju bolesti. S obzirom na neprimjenjivost kriterija smetnja repolarizacije kod djece mlađe od 14 godina, treba razmotriti smanjenje broja kriterija potrebnih za postavljanje dijagnoze u toj dobnoj skupini. Implantabilni elektrokardioverter defibrilator (ICD) i radiofrekventna ablacija u kombinaciji kratkoročno osiguravaju odličnu kvalitetu života kod našeg bolesnika s teškim oblikom ARVC-a, dok su dugoročni rezultati s obzirom na progresivni tijek bolesti neizvjesni.

• Keywords (english): Adolescent; Arrhythmogenic Right Ventricular Dysplasia/diagnosis; Arrhythmogenic Right Ventricular Dysplasia/epidemiology; Arrhythmogenic Right Ventricular Dysplasia/genetics; Arrhythmogenic Right Ventricular Dysplasia/therapy; Catheter Ablation/methods; Child; Croatia/epidemiology; Death, Sudden, Cardiac/etiology; Death, Sudden, Cardiac/prevention & control; Disease Progression; Electric Countershock/instrumentation; Electric Countershock/methods; Family Health; Female; Heart Ventricles/pathology; Humans; Male; Medical History Taking; Pedigree; Prognosis
• Language: croatian
• Publication type: Scientific paper - Original scientific paper
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Liječnički vjesnik
• Numbering: vol. 138, no. 11-12, pp. 339-344
• p-ISSN: 0024-3477
• URN:NBN: urn:nbn:hr:105:382361
• Publication: 2016-11
• Document URL: https://hrcak.srce.hr/file/256218
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 09:37:45