Arrythmias are a group of conditions in which there is an alteration in the rate or rhythm of the heart. The heart can beat too fast, too slow or with an irregular rhythm. Arrythmias are caused by changes in heart tissue and activity or in the electrical signals that control your heartbeat. These changes can be caused by damage from disease, injury or genetics including cardiac channelopathies. Cardiac channelopathies are a group of inherited conditions that are associated with a defect in the cardiac ion channel function. These problems cause an increased susceptibility to abnormal heart rhythm (dysrhythmia or arrythmia), most often ventricular tachycardia or ventricular fibrillation that ultimately can lead to sudden cardiac death (SCD). The differential diagnosis between ion channel disease and cardiomyopathies can be challenging on occasion as severe ventricular dysrhythmias can manifest in patients with cardiopathies or with structurally normal hearts.
The Igenomix Arrythmia Precision Panel serves as a diagnostic and screening tool 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.
The clinical utility of this panel is:
Priori, S. G., Wilde, A. A., Horie, M., Cho, Y., Behr, E. R., Berul, C., Blom, N., Brugada, J., Chiang, C. E., Huikuri, H., Kannankeril, P., Krahn, A., Leenhardt, A., Moss, A., Schwartz, P. J., Shimizu, W., Tomaselli, G., & Tracy, C. (2013). HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart rhythm, 10(12), 1932–1963. https://doi.org/10.1016/j.hrthm.2013.05.014
Schwartz, P. J., Ackerman, M. J., George, A. L., Jr, & Wilde, A. (2013). Impact of genetics on the clinical management of channelopathies. Journal of the American College of Cardiology, 62(3), 169–180. https://doi.org/10.1016/j.jacc.2013.04.044
Hershberger, R. E., Givertz, M. M., Ho, C. Y., Judge, D. P., Kantor, P. F., McBride, K. L., Morales, A., Taylor, M., Vatta, M., Ware, S. M., & ACMG Professional Practice and Guidelines Committee (2018). Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics, 20(9), 899–909. https://doi.org/10.1038/s41436-018-0039-z
Schwartz, P. J., Crotti, L., & Insolia, R. (2012). Long-QT syndrome: from genetics to management. Circulation. Arrhythmia and electrophysiology, 5(4), 868–877. https://doi.org/10.1161/CIRCEP.111.962019
Kline, J., & Costantini, O. (2019). Inherited Cardiac Arrhythmias and Channelopathies. The Medical clinics of North America, 103(5), 809–820. https://doi.org/10.1016/j.mcna.2019.05.001
Monteforte, N., Napolitano, C., & Priori, S. G. (2012). Genetics and arrhythmias: diagnostic and prognostic applications. Revista espanola de cardiologia (English ed.), 65(3), 278–286. https://doi.org/10.1016/j.recesp.2011.10.008
Priori, S. G., & Napolitano, C. (2004). Genetics of cardiac arrhythmias and sudden cardiac death. Annals of the New York Academy of Sciences, 1015, 96–110. https://doi.org/10.1196/annals.1302.008
