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Genomics Precision Diagnostic > Cardiology > Sudden Cardiac Death Precision Panel

Sudden Cardiac Death Precision Panel

Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Sudden Cardiac Death (SCD) is an unexpected death due to cardiac causes that takes place in a short time period in a person with known or unknown underlying cardiac disease. It is an important public-health problem with multiple etiologies, risk factors and changing temporal trends. The overwhelming sadness suffered by families is heightened by the risk many of these deaths confer upon surviving relatives. For those with known cardiac disease, disease-specific therapy and risk stratification are key to reducing sudden cardiac death. Uncovering a definitive cause of death can help relieve the uncertainty as a first step in screening surviving relatives. Increasing knowledge about the molecular mechanisms and genetic drivers of malignant arrythmias have become a key component in achieving a risk stratification system to optimize and personalize patient care.
  • The Igenomix Sudden Cardiac Death Precision Panel serves as a diagnostic and screening tool ultimately leading to a preventive approach of the disease by risk stratification. 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 Sudden Cardiac Death Precision Panel is indicated in those cases where there are a series of risk factors that could precipitate SCD including:
    • Family history of premature coronary artery disease 
    • Family history of cardiomyopathy  
    • Family history of malignant arrythmia 
    • Family history of SCD 
    • Personal history of cardiovascular risk factors 
      • Smoking 
      • Dyslipidemia 
      • Hyeprtension 
      • Diabetes 
      • Obesity 
      • Sedentary lifestyle 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular diagnosis for an accurate clinical diagnosis. 
  • Early initiation of treatment in case risk factors are present (smoking, diabetes, dyslipidemia, hyerptension etc)
  • Early prevention with a multidisciplinary team in the form of 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

Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., Gillis, A. M., Granger, C. B., Hammill, S. C., Hlatky, M. A., Joglar, J. A., Kay, G. N., Matlock, D. D., Myerburg, R. J., & Page, R. L. (2018). 2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Journal of the American College of Cardiology, 72(14), e91–e220. https://doi.org/10.1016/j.jacc.2017.10.054 

Isbister, J., & Semsarian, C. (2019). Sudden cardiac death: an update. Internal medicine journal, 49(7), 826–833. https://doi.org/10.1111/imj.14359 

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  

Haïssaguerre, M., Derval, N., Sacher, F., Jesel, L., Deisenhofer, I., & de Roy, L. et al. (2008). Sudden Cardiac Arrest Associated with Early Repolarization. New England Journal Of Medicine, 358(19), 2016-2023. doi: 10.1056/nejmoa071968 

Refaat, M., Hotait, M., & London, B. (2015). Genetics of Sudden Cardiac Death. Current Cardiology Reports, 17(7). doi: 10.1007/s11886-015-0606-8 

Adabag, A. S., Luepker, R. V., Roger, V. L., & Gersh, B. J. (2010). Sudden cardiac death: epidemiology and risk factors. Nature reviews. Cardiology, 7(4), 216–225. https://doi.org/10.1038/nrcardio.2010.3 

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