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familion HCM Hypertrophic Cardiomyopathy ® Genetic Testing for Cardiovascular Disorders Sarcomeric HCM Genes familion Gene ® MYH7 Genetic Testing for Cardiovascular Disorders MYBPC3 Percentage of HCM 25-35% 20-30% TNNT2 3-5% TNNI3 <5% TNNC1 Rare TPM1 <5% MYL2 <5% MYL3 Rare ACTC Rare The FAMILION HCM Test — A Genetic Test for HCM Including Phenocopy Genes • The FAMILION HCM Test will identify a mutation in 50-60% of patients with a high index of clinical suspicion for HCM.1 • Experience is important to processing genetic tests and interpreting results. –O ur vast experience in genetic testing for complex familial heart diseases and original research contributions based on thousands of tests help ensure that the FAMILION genetic tests provide the most accurate results available. • Genetic testing is the most reliable method for identifying potentially at-risk family members. HCM Phenocopy Genes HCM is a Diverse Heritable Disorder Affecting 1 in 500 People1 • Clinically, HCM presents as unexplained thickening of the left ventricle (LV), the primary pumping chamber of the heart.1 – The potentially lethal nature of HCM makes accurate identification vital to appropriate monitoring and cardiac evaluation. • HCM is caused by a mutation of one or more of the genes encoding the fundamental structural and functional contractile unit of the heart called the cardiac sarcomere.1 – HCM patients with a sarcomeric gene mutation experience. greater risk of adverse cardiac outcomes compared to HCM patients that test negative for a sarcomeric gene mutation. 2 • Certain metabolic diseases, including Fabry disease and Danon disease, may mimic sarcomeric HCM upon echocardiographic examination, but have a very different clinical course and therapy compared to HCM caused by sarcomeric gene mutations. • Relying on echocardiogram to identify at-risk children and adolescents may be misleading, because LV hypertrophy may not become visible until later in life.1 Gene Percentage of HCM Disease Inheritance Pattern GLA <5% Anderson-Fabry disease X-linked LAMP2 <5% Danon disease X-linked PRKAG2 <5% Familial WolffParkinson-White syndrome Autosomal Dominant Cumulative Probabily of Adverse Cardiac Outcomes in Patients Diagnosed with HCM* Adapted from: OlivottoI, Girolami F, Ackkerman MJ, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2008;83:630-638. 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. 602379 07/14 References: 1. Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nature. 2008;5:158-168. 2. Olivotto I, Girolami F, Ackerman MJ, et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc. 2008;83:630-638. 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. HCM Summary of Expert Consensus Recommendations on Genetic Hypertrophic Cardiomyopathy 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. 602379 07/14 Recommended Reference and Table Adapted 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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