Sudden Unexplained Death

Sudden cardiac death is a relatively common cause of death in the elderly, with the majority of cases due to structural heart disease. Sudden cardiac death in the young (<35y) is a less frequent occurrence and more commonly suggests an inherited form of heart disease. While the most common cause of sudden cardiac death in the young is a result of hypertrophic cardiomyopathy, a finding that can frequently be detected by autopsy, the occurrence of sudden cardiac death with no identifiable cause present a diagnostic problem and is considered to be a sudden unexplained death (SUD). An estimated 1/3 of sudden death cases in individuals younger than 20 years do not have an identifiable cause at autopsy and arrhythmia should be considered in the differential diagnosis. Long QT syndrome (LQTS), Brugada syndrome, and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) are inherited forms of arrhythmia that frequently manifest symptoms before the age of 50, with some cases occurring in infancy. In each of these conditions, a significant proportion of patients present with sudden death as the first symptom. Other symptoms include palpitations, syncope, and dizziness. The diseases included in this post- mortem arrhythmia panel occur in all ethnicities and incidence varies from 1 in 3000 to 1 in 10,000.

Tests Available

Forms and Documents

Test Details

ANK2, CALM1, CALM2, CALM3, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A
  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members
  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J552
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81413x1, 81414x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Prutkin et al. (2008) Prog Cardiovasc Dis 50(6):390-403 (PMID: 18474283)
  2. Haissaguerre et al. (2008) N Eng J Med. 358(19):2016-2023 ( PMID: 18463377)
  3. Tester and Ackerman (2009) Ann Rev Med. 60:69-84 (PMID: 18928334)
  4. Tester et al. (2012) Mayo Clinic Proceedings 87 (6):524-39 (PMID: 22677073)
  5. Alders M, Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih
  6. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon, Adam, Ardinger, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.n
  7. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 199
  8. Hedley et al. (2009) Hum Mutation 30:1-11 (PMID: 19606473)
  9. Priori et al. (2002) Circulation 106: 69-74 (PMID: 12093772)
  10. Skinner et al. (2011) Heart Rhythm 8(3):412-419 (PMID: 21070882)
  11. Gladding et al. (2010) Heart Rhythm 7:481-486 (PMID: 20167303)
  12. Tester et al. (2007) JACC 49 (2):240-6 (PMID: 17222736)

CREATE A CUSTOM PANEL

Test Details

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with a hereditary cardiovascular condition

Customizable Cardiology Panel

  • Next-Gen Sequencing
  • Exon Array CGH

Ordering

J779
4 weeks

Billing

Varies by gene
No
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

CREATE A CUSTOM PANEL

Test Details

  • Genetic diagnosis in sudden unexplained death
  • Recurrence risk information for family members

Customizable Cardiology Panel

  • Exon Array CGH
  • Next-Gen Sequencing

Ordering

J552C
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81413x1, 81414x1
No
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Prutkin et al. (2008) Prog Cardiovasc Dis 50(6):390-403 (PMID: 18474283)
  2. Haissaguerre et al. (2008) N Eng J Med. 358(19):2016-2023 ( PMID: 18463377)
  3. Tester and Ackerman (2009) Ann Rev Med. 60:69-84 (PMID: 18928334)
  4. Tester et al. (2012) Mayo Clinic Proceedings 87 (6):524-39 (PMID: 22677073)
  5. Alders M, Christiaans I. Long QT Syndrome. 2003 Feb 20 [Updated 2015 Jun 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih
  6. Brugada, Campuzano, Brugada, et al. Brugada Syndrome. 2005 Mar 31 [Updated 2014 Apr 10]. In: Pagon, Adam, Ardinger, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.n
  7. Napolitano C, Priori SG, Bloise R. Catecholaminergic Polymorphic Ventricular Tachycardia. 2004 Oct 14 [Updated 2014 Mar 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 199
  8. Hedley et al. (2009) Hum Mutation 30:1-11 (PMID: 19606473)
  9. Priori et al. (2002) Circulation 106: 69-74 (PMID: 12093772)
  10. Skinner et al. (2011) Heart Rhythm 8(3):412-419 (PMID: 21070882)
  11. Gladding et al. (2010) Heart Rhythm 7:481-486 (PMID: 20167303)
  12. Tester et al. (2007) JACC 49 (2):240-6 (PMID: 17222736)