Author + information
- Received March 13, 2018
- Revision received May 24, 2018
- Accepted May 31, 2018
- Published online August 6, 2018.
- Estelle Gandjbakhch, MD, PhDa,b,c,d,∗ (, )@egandj@Inserm@ICAN_Institute,
- Alban Redheuil, MD, PhDd,e,f,
- Françoise Pousset, MDb,c,d,
- Philippe Charron, MD, PhDa,b,c,d,g and
- Robert Frank, MDb,c,d
- aSorbonne Universités, UPMC Univ Paris 06, INSERM 1166, Paris, France
- bAPHP, Pitié-Salpêtrière University Hospital, Institute of Cardiology, Paris, France
- cCentre de Référence des Maladies Cardiaques Héréditaires, Paris, France
- dInstitute of Cardiometabolism and Nutrition (ICAN), Paris, France
- eAPHP, Pitié-Salpêtrière University Hospital, Department of Cardiovascular and Thoracic, Imaging and Interventional Radiology, Institute of Cardiology, Paris, France
- fSorbonne Universités, UPMC Univ Paris 06, INSERM 1146, CNRS 7371, Laboratoire d’Imagerie Biomédicale, Paris, France
- gAPHP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France
- ↵∗Address for correspondence:
Dr. Estelle Gandjbakhch, Institut de Cardiologie, APHP, Hôpital Pitié-Salpêtrière, 45-87 boulevard de l’hôpital, 75013 Paris, France.
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiomyopathy that can lead to sudden cardiac death and heart failure. Our understanding of its pathophysiology and clinical expressivity is continuously evolving. The diagnosis of ARVC/D remains particularly challenging due to the absence of specific unique diagnostic criteria, its variable expressivity, and incomplete penetrance. Advances in genetics have enlarged the clinical spectrum of the disease, highlighting possible phenotypes that overlap with arrhythmogenic dilated cardiomyopathy and channelopathies. The principal challenges for ARVC/D diagnosis include the following: earlier detection of the disease, particularly in cases of focal right ventricular involvement; differential diagnosis from other arrhythmogenic diseases affecting the right ventricle; and the development of new objective electrocardiographic and imaging criteria for diagnosis. This review provides an update on the diagnosis of ARVC/D, focusing on the contribution of emerging imaging techniques, such as echocardiogram/magnetic resonance imaging strain measurements or computed tomography scanning, new electrocardiographic parameters, and high-throughput sequencing.
The authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received March 13, 2018.
- Revision received May 24, 2018.
- Accepted May 31, 2018.
- 2018 American College of Cardiology Foundation
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