Arrhythmogenic Right Ventricular Dysplasia (ARVD) is an inherited cardiomyopathy characterized by structural and functional abnormalities in the right ventricle, resulting in ventricular arrhythmias. It is a rare but important cause of sudden arrhythmic death in young and healthy personas, as well as a subtle cause of congestive heart failure, which can lead to temporary incapacitation with severe consequences. Structurally, although less prominent than right ventricle, left ventricle can be also affected by myocyte loss and fibrosis, increasing the likelihood of this condition with age. This fact suggests that ARVD is a progressive disease. Affected individuals do not have evidence of the disease at birth, and typically the disease starts to manifest clinically at approximately 12 or 13 years of age, with the mean age at diagnosis in the early 30s. The mode of inheritance is mainly autosomal dominant.
The Igenomix Arrhythmogenic Right Ventricular Dysplasia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of cardiomyopathy, ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
Gemayel, C., Pelliccia, A., & Thompson, P. D. (2001). Arrhythmogenic right ventricular cardiomyopathy. Journal of the American College of Cardiology, 38(7), 1773–1781. https://doi.org/10.1016/s0735-1097(01)01654-0
Sen-Chowdhry, S., Lowe, M. D., Sporton, S. C., & McKenna, W. J. (2004). Arrhythmogenic right ventricular cardiomyopathy: clinical presentation, diagnosis, and management. The American journal of medicine, 117(9), 685–695. https://doi.org/10.1016/j.amjmed.2004.04.028
Hulot, J. S., Jouven, X., Empana, J. P., Frank, R., & Fontaine, G. (2004). Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation, 110(14), 1879–1884. https://doi.org/10.1161/01.CIR.0000143375.93288.82
Corrado, D., Fontaine, G., Marcus, F. I., McKenna, W. J., Nava, A., Thiene, G., & Wichter, T. (2000). Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. Circulation, 101(11), E101–E106. https://doi.org/10.1161/01.cir.101.11.e101
McKenna, W. J., Thiene, G., Nava, A., Fontaliran, F., Blomstrom-Lundqvist, C., Fontaine, G., & Camerini, F. (1994). Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. British heart journal, 71(3), 215–218. https://doi.org/10.1136/hrt.71.3.215
