Liječnički vjesnik, Vol. 138 No. 11-12, 2016.
Professional paper
RIGHT VENTRICULAR ARRHYTMOGENIC CARDIOMYOPATHY – HAVE WE AVOIDED A FAMILY TRAGEDY BY APPLYING CONTEMPORARY DIAGNOSTIC AND TREATMENT APPROACH?
Ivan Malčić
Hrvoje Kniewald
Višnja Tokić Pivac
Dražen Jelašić
Bruno Buljević
Abstract
Introduction: Arrhytmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty replacement, dominantly in the right, but often also in the left ventricle. It is a significant 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 fibrous 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 defibrillator 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.
Keywords
Arrhythmogenic right ventricular dysplasia – complications, diagnosis, genetics, therapy; Heart ventricles – pathology; Myocardium – pathology; Death, sudden, cardiac – etiology, prevention and control; Genetic predisposition to disease; fi brosis – pathology; Adipose tissue – pathology; Mutation; Tachycardia, ventricular – therapy; Defi brillators, implantable; Catheter ablation
Hrčak ID:
173554
URI
Publication date:
5.1.2017.
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