- Cardiomyopathies are a group of conditions with a strong genetic background that structurally hinder the heart to pump out blood to the rest of the body due to weakness in the heart muscles. These diseases affect individuals of all ages and can lead to heart failure and sudden cardiac death. If there is a family history of cardiomyopathy it is strongly recommended to undergo genetic testing to be aware of the family risk, personal risk, and treatment options. Most types of cardiomyopathies are inherited in a dominant manner, which means that one altered copy of the gene is enough for the disease to present in an individual. The symptoms of cardiomyopathy are variable, and these diseases can present in different ways. There are 5 types of cardiomyopathies, the most common being hypertrophic cardiomyopathy:
- Hypertrophic cardiomyopathy (HCM)
- Dilated cardiomyopathy (DCM)
- Restrictive cardiomyopathy (RCM)
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Isolated Left Ventricular Non-Compaction Cardiomyopathy (LVNC).
- 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), most often ventricular tachycardia or ventricular fibrillation that ultimately leads 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 Comprehensive Cardiology Precision Panel provides a comprehensive analysis of the most common mutations causing channelopathies, cardiomyopathies and sudden cardiac death using next-generation sequencing (NGS).
- The Igenomix Comprehensive Cardiology Precision Panel is indicated in those cases where there is:
- Shortness of breath
- Arrythmia (abnormal heart rhythm)
- Family history of arrhythmia
- Abnormal scans
- Ventricular tachycardia
- Ventricular fibrillation
- Chest Pain
- Sudden cardiac death in the family
The clinical utility of this panel is:
- The genetic and molecular diagnosis for an accurate clinical diagnosis of a patient with personal or family history of cardiomyopathy, channelopathy or sudden cardiac death.
- Early initiation of treatment with a multidisciplinary team for appropriate preventive ICD placement, pacemaker, pharmacologic therapy, or interventional procedures.
- Prognostic information and genetic counselling for family at risk.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol 2019;March 17
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
Lüscher T. F. (2019). Channelopathies and sudden cardiac death: genetics and pharmacological triggers. European heart journal, 40(37), 3067–3070. https://doi.org/10.1093/eurheartj/ehz710
Burke, M. A., Cook, S. A., Seidman, J. G., & Seidman, C. E. (2016). Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy. Journal of the American College of Cardiology, 68(25), 2871–2886. https://doi.org/10.1016/j.jacc.2016.08.079
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
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. (2018). Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. Journal of cardiac failure, 24(5), 281–302. https://doi.org/10.1016/j.cardfail.2018.03.004
Corrado, D., Basso, C., & Judge, D. P. (2017). Arrhythmogenic Cardiomyopathy. Circulation research, 121(7), 784–802. https://doi.org/10.1161/CIRCRESAHA.117.309345