title: Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment.
abstract: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a heart muscle disorder characterized pathologically by fatty or fibrofatty replacement and electrical instability of the right ventricular myocardium. Clinical manifestations include structural and functional malformations (fatty infiltration, dilatation, aneurysms) of the right ventricle, ECG abnormalities, and presentation with ventricular tachycardias with left bundle branch block pattern or sudden death. The disease often is familial with an autosomal inheritance. The typical hallmarks of ARVD/C are distributed in the so-called "triangle of dysplasia." The functional and morphologic characteristics are relevant to clinical imaging approaches such as contrast angiography, echocardiography, radionuclide angiography, ultrafast computed tomography, and cardiovascular magnetic resonance imaging. Evident forms of the disease are straightforward to diagnose based on a series of diagnostic criteria proposed by the International Task Force for Cardiomyopathy. However, the diagnosis of early and mild forms of the disease often is difficult. Treatment is directed toward preventing life-threatening ventricular arrhythmias in which radiofrequency ablation and implantable defibrillators play an increasing role. Despite new diagnostic and therapeutic approaches in ARVD/C, uncertainties about the etiology of the disease, the genetic basis, the appropriate diagnosis and therapy, and the clinical course of patients with ARVD/C have resulted in several registries to increase our knowledge of this intriguing disease.
authors.affiliation: Department of Cardiology, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Philippine
authors.initials: P
authors.lastname: Kiès
authors.forename: Marianne
authors.initials: M
authors.lastname: Bootsma
authors.forename: Jeroen
authors.initials: J
authors.lastname: Bax
authors.forename: Martin J
authors.initials: MJ
authors.lastname: Schalij
authors.forename: Ernst E
authors.initials: EE
authors.lastname: van der Wall
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D004562:Electrocardiography; D006801:Humans; D015994:Incidence; D015995:Prevalence