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        Genomics Precision Diagnostic > Cardiology > Cardiomyopathy Precision Panel

        Cardiomyopathy Precision Panel

        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.
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • 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:  
          1. Hypertrophic cardiomyopathy (HCM) 
          2. Dilated cardiomyopathy (DCM) 
          3. Restrictive cardiomyopathy (RCM) 
          4. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 
          5. Isolated Left Ventricular Non-Compaction Cardiomyopathy (LVNC). 
        • The Igenomix Cardiomyopathy Precision Panel serves as a diagnostic and 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. 

        Indication

        • The Igenomix Cardiomyopathy Precision Panel is indicated in those cases where there is a clinical suspicion of cardiomyopathy with or without the following manifestations:  
          • Shortness of breath
          • Fatigue 
          • Arrythmia (abnormal heart rhythm) . 
          • Family history of arrhythmia 
          • Abnormal scans 
          • Ventricular tachycardia 
          • Ventricular fibrillation 
          • Chest Pain 
          • Dizziness 
          • Sudden cardiac death in the family 

        Clinical Utility

        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. 
        • Risk assessment and genetic counselling of asymptomatic family members  according to the  mode of inheritance. 

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        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 

        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 

        Correction to: 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. (2020). Circulation, 142(25). doi: 10.1161/cir.0000000000000945 

        McKenna, W. J., Maron, B. J., & Thiene, G. (2017). Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circulation research, 121(7), 722–730. https://doi.org/10.1161/CIRCRESAHA.117.309711 

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