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familion CPVT Catecholaminergic Polymorphic Ventricular Tachycardia ® Genetic Testing for Cardiovascular Disorders familion Gene The FAMILION CPVT Test – A Comprehensive CPVT Panel ® Percentage of CPVT Inheritance Pattern 55-65% Dominant KCNJ2 5-10% Dominant CASQ2 1-3% Typical Resessive ANK2 Unknown Dominant Genetic Testing for CardiovascularRYR2 Disorders Bidirectional VT • The FAMILION CPVT test will identify a mutation in 65-75% of patients with a high index of clinical suspicion for CPVT.1-4 • Experience is important to processing genetic tests and interpreting results. • Genetic testing is the most reliable method for identifying potentially at-risk family members. – AHA/ACC/ESC and HRS/EHRA guidelines recommend family - specific testing after identifying a mutationpositive proband.8, 9 CPVT is a Highly Lethal Heritable Disorder • CPVT is most commonly caused by mutations of the cardiac ryanodine receptor gene (RYR2) which encodes a sarcoplasmic calcium ion channel. Mutations in the genes CASQ2, KCNJ2, and ANK2 may also cause CPVT or CPVT-like disease.1-4 • In CPVT, emotional and/or physical stress may trigger bidirectional VT with a beat-to-beat 180-degree rotation of the QRS complex.5 • If left untreated, CPVT is lethal in 30%-50% of patients.5 – The lethal nature of CPVT makes early accurate identification of at-risk family members vital to patient monitoring and prophylaxis. Clinical Tools May Not Differentiate CPVT from LQTS • Symptom triggers do not differentiate CPVT from LQTS. – The treatment plan for CPVT and LQTS may vary significantly. –N early 50% of CPVT patients taking a beta-blocker continue experiencing cardiac arrhythmias and may require an ICD.6 • As many as 30% of CPVT patients have been misdiagnosed as having “Long QT with a normal QTc.”6,7 – A resting ECG cannot diagnose CPVT and stress testing may not produce an ECG tracing diagnostic of CPVT. References: 1. Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Transgenomic ® Advancing Personalized Medicine Five Science Park, New Haven CT 06511 Client Services 877.274.9432 • Fax 855.263.8668 www.familion.com Transgenomic and FAMILION are registered trademarks of Transgenomic, Inc. ©2014 Transgenomic, Inc. All rights reserved. Printed in USA. Document No. 602374 07/14 Rhythm. 2007;4:675-678. 2. Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009;119:2426-34. 3. Medeiros-Domingo A, Tester DJ, Makielski JC, et al. Spectrum of mutations in RYR2, CASQ2 and KCNJ2 genes and genotype-phenotype correlation in a cohort of unrelated cases referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm Society 2009 Scientific Sessions. Heart Rhythm. 2009;6:S102. 4. Ruan Y, Theilade J, Memmi M, et al. KCNJ2 mutations in patients referred for catecholaminergic polymorphic ventricular tachycardia gene screening. American Heart Association 2007 Scientific Sessions. Circulation. 2007;116:II_492. 5. Mohamed U, Napolitano C, Priori SG. Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia. J Cardiovasc Electrophysiol. 2007;18:791-797. 6. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69-74. 7. Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2007;4:675-678. 8. Zipes DP, Camm AJ, Borggrefe M, et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death—executive summary. J Am Coll Cardiol. 2006;48(5):1065-1102. 9. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace. 2011;13:1077-109. familion ® document details the diagnostic, prognostic, and therapeutic implications provided by genetic test results for each of the diseases reviewed. A summary of selected recommendations is provided below. CPVT SummaryCatecholaminergic of Expert Consensus Recommendations on Genetic Polymorphic Ventricular Tachycardia Genetic Testing for Cardiovascular Disorders familion Testing for Channelopathies, Cardiomyopathies and SIDS/SUDS HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies ® Genetic Testing for Cardiovascular Disorders The Heart Rhythm Society (HRS) and European Heart Rhythm Association (EHRA) endorsed recommendations for genetic testing of cardiac channelopathies and cardiomyopathies. Authored by a writing group of international experts, the document details the diagnostic, prognostic, and therapeutic implications provided by genetic test results for each of the diseases reviewed. A summary of selected recommendations is provided below. Summary of Expert Consensus Recommendations on Genetic Testing for Channelopathies, Cardiomyopathies and SIDS/SUDS SIDS/ SUDS Cardiomyopathies Channelopathies Index Patients with Established or Suspected Clinical Diagnosis Recommended: For diagnosed/suspected patients or asymptomatic patients with idiopathic, serial QTc values >480 ms (prepuberty) or >500 ms (adults) LQTS Family Recommended May be considered: For asymptomatic patients with idiopathic, serial QTc values >460 ms (prepuberty) or >480 ms (adults) CPVT Recommended Recommended BrS Can be useful Recommended SQTS May be considered Recommended HCM Recommended Recommended Conduction Disease with DCM Recommended Recommended DCM Can be useful Recommended ARVC Can be useful: For patients satisfying 2010 task force diagnostic criteria May be considered: For patients with 1 major or 2 minor criteria Not recommended: For patients with only a single, minor criterion LVNC Can be useful Recommended Postmortem SIDS/SUDS May be considered: In the setting of autopsy-negative sudden unexplained death syndrome (SUDS) Recommended Transgenomic ® Advancing Personalized Medicine Five Science Park, New Haven CT 06511 Client Services 877.274.9432 • Fax 855.263.8668 www.familion.com Transgenomic and FAMILION are registered trademarks of Transgenomic, Inc. ©2014 Transgenomic, Inc. All rights reserved. Printed in USA. Document No. 602374 07/14 Recommended Reference and Table Adaapted from: Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm. 2011;8:1308-39.
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