Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis.
This review aims to give an update on the pathogenesis, clinical manifestations, and diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Arrhythmogenic right ventricular cardiomyopathy is mainly an autosomal dominant inherited disease linked to mutations in genes encoding desmosomes or desmosome-related proteins. Classic symptoms include palpitations, cardiac syncope, and aborted cardiac arrest due to ventricular arrhythmias. Heart failure may develop in later stages. Diagnosis is based on the presence of major and minor criteria from the Task Force Criteria revised in 2010 (TFC 2010), which includes evaluation of findings from six different diagnostic categories. Based on this, patients are classified as having possible, borderline, or definite ARVC. Imaging is important in ARVC diagnosis, including both echocardiography and cardiac magnetic resonance imaging for detecting structural and functional abnormalities, but importantly these findings may occur after electrical alterations and ventricular arrhythmias. Electrocardiograms (ECGs) and signal-averaged ECGs are analysed for depolarization and repolarization abnormalities, including T-wave inversions as the most common ECG alteration. Ventricular arrhythmias are common in ARVC and are considered a major diagnostic criterion if originating from the RV inferior wall or apex. Family history of ARVC and detection of an ARVC-related mutation are included in the TFC 2010 and emphasize the importance of family screening. Electrophysiological studies are not included in the diagnostic criteria, but may be important for differential diagnosis including RV outflow tract tachycardia. Further differential diagnoses include sarcoidosis, congenital abnormalities, myocarditis, pulmonary hypertension, dilated cardiomyopathy, and athletic cardiac adaptation, which may mimic ARVC.
Department of Cardiology and Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway Institute for Surgical Research, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway University of Oslo, PO Box 1072 Blindern, Oslo 0316, Norway kristina.haugaa@rr-research.no.
Kristina H
KH
Haugaa
Department of Cardiology and Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway Institute for Surgical Research, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway University of Oslo, PO Box 1072 Blindern, Oslo 0316, Norway.
Trine F
TF
Haland
Department of Cardiology and Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway University of Oslo, PO Box 1072 Blindern, Oslo 0316, Norway.
Ida S
IS
Leren
Department of Cardiology and Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway Institute for Surgical Research, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway University of Oslo, PO Box 1072 Blindern, Oslo 0316, Norway.
Jørg
J
Saberniak
Department of Cardiology and Center for Cardiological Innovation, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway Institute for Surgical Research, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, Oslo 0372, Norway University of Oslo, PO Box 1072 Blindern, Oslo 0316, Norway.
Thor
T
Edvardsen
D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000503:physiopathology*; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics; D051187:Desmocollins / Q000235:genetics; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005192:Family Health; D006333:Heart Failure / Q000175:diagnosis / Q000503:physiopathology*; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics
D015815:Cell Adhesion Molecules; D051187:Desmocollins; D009687:Nuclear Proteins; C102646:PNN protein, human
Arrhythmogenic right ventricular cardiomyopathy; Desmosomal mutations; Signal-averaged ECG; Ventricular arrhythmias