Genetic testing and genetic counseling in patients with sudden death risk due to heritable arrhythmias

Katherine G. Spoonamore, Stephanie Ware

Research output: Contribution to journalArticle

21 Scopus citations


Sudden cardiac death due to heritable ventricular arrhythmias is an important cause of mortality, especially in young healthy individuals. The identification of the genetic basis of Mendelian diseases associated with arrhythmia has allowed the integration of this information into the diagnosis and clinical management of patients and at-risk family members. The rapid expansion of genetic testing options and the increasing complexity involved in the interpretation of results creates unique opportunities and challenges. There is a need for competency to incorporate genetics into clinical management and to provide appropriate family-based risk assessment and information. In addition, disease-specific genetic knowledge is required to order and correctly interpret and apply genetic testing results. Importantly, genetic diagnosis has a critical role in the risk stratification and clinical management of family members. This review summarizes the approach to genetic counseling and genetic testing for inherited arrhythmias and highlights specific genetic principles that apply to long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.

Original languageEnglish (US)
Pages (from-to)789-797
Number of pages9
JournalHeart Rhythm
Issue number3
StatePublished - Mar 1 2016


  • Arrhythmia
  • Cascade genetic testing
  • Channelopathy
  • Genetic counseling
  • Genetic testing
  • Inherited
  • Syndrome

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

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