The State of the Molecular Autopsy for Sudden Death in the Young
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1 The State of the Molecular Autopsy for Sudden Death in the Young Michael J. Ackerman, MD, PhD Windland Smith Rice Cardiovascular Genomics Research Professor Professor of Medicine, Pediatrics, and Pharmacology Director, Long QT Syndrome Clinic and the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory President, Sudden Arrhythmia Death Syndromes (SADS) Foundation
2 Learning Objectives to Disclose: To DETAIL the state of postmortem genetic testing (AKA, the molecular autopsy ) for autopsy positive and autopsy negative Sudden Unexplained Death Syndrome (SUDS) To EXAMINE the three Achilles heels that threaten to derail the molecular autopsy WINDLAND Smith Rice Sudden Death Genomics Laboratory Conflicts of Interest to Disclose: Consultant Boston Scientific, Gilead Sciences, Medtronic, St. Jude Medical, and Transgenomic/FAMILION Royalties Transgenomic/FAMILION
3 Sudden Death in the Young (SDY) Nature Medicine 2013
4 Sudden Death in the Young (SDY) Nature Medicine 2013
5 Sudden Cardiac Death in the Young Autopsy Negative Autopsy Positive Tester and Ackerman. Pediatric Cardiology 33: , 2012
6 Sudden Cardiac Death in the Young
7 Predicting Positive Genetic Test Clinical Markers for Positive Genetic Test Marker Pts Age Dx < 45 yrs 1 MLVWT 20 mm 1 FH of HCM 1 FH SCD 1 Reverse-curve HCM 1 Hx of Hypertension -1 Yield of Genetic Testing (%) 14% p < % 41% 59% 67% 81% Scoring range: -1 5 pts 5% 4/84 32/225 45/238 82/ /173 64/95 30/ Total Score of Clinical Markers <5% Yield of Genetic Testing ~80% Bos Ackerman. Mayo Clin Proc 89: , 2014
8 G C T G A G C T C T C A Normal L185R- TPM1 G C T G A G C T C T C A G Van Driest Ackerman. AJC 90: , 2002
9 HCM: A Disease of the Myofilament Modified from Spirito P et al. NEJM 336:775, 1997
10 Genetic Testing for HCM Van Driest Ackerman. AJC 90: , 2002
11 Genetic Testing for HCM Mutation-specific genetic testing is recommended for family members and other appropriate relatives subsequently following the identification of the disease-causative mutation in an index case. Ackerman, Priori, et al. Heart Rhythm 8: , 2011 (HRS/EHRA) Gersh, Maron, et al. Circulation 124: , 2011 (ACCF/AHA) Van Driest Ackerman. AJC 90: , 2002
12 State of Postmortem Genetic Testing for Autopsy Negative SUD A Mother s Question Why did my 17-year-old son die?
13 Evaluation of Sudden Unexplained Death March 1999 previously well 17-year-old white male found dead in bed Autopsy negative Local newspaper editorial positive Parents talk to your kids Clue in the family history mom fell from 3-meter diving board at age 9 Negative standard evaluation ECG, Echo
14 delGCGCT L191fs/90 Ackerman et al. Am J of Forensic Medicine and Pathology 22: , 2001
15
16 60 yr Genetic 400 Diagnosis of LQTS 38 yr yr yr 13 yr 12 yr 14 yr SUD 3/26/99 56 yr yr 390
17 Autopsy Negative Sudden Unexplained Death Syndrome In Autopsy Negative SUD, How Often Would a Molecular Autopsy Be Positive? 1. Don t know what a molecular autopsy is % % % 5. > 50% Nature Medicine 2013
18 State of Postmortem Genetic Testing N = 173 cases of SUD (106 males) Average age = years (1-69 yrs) Personal or FHx of Cardiac Events = 70 (40%) Autopsy Negative Sudden Unexplained Death ~ 25-30% Tester Ackerman. Mayo Clin Proc 79: , 2004 Tester Ackerman. JACC 49: , 2007 Tester Ackerman. Mayo Clin Proc 87: , 2012
19 60 Age- and Sex-Specific Effect on the Yield of a Cardiac Channel Molecular Autopsy Tester Ackerman. Mayo Clin Proc 87: , 2012 Percent Yield (%) % 26 p< % 19 32% 6 21% 5 48% 12 18% 9 40% 4 24% 4 38% 3 13% 1 25% 1 0 F M All Ages (n=173) 0% 0% 0% F M F M F M F M F M 4 5 F M ys (n=43) 11-20ys (n=75) 21-30ys (n=27) 31-40ys (n=16) 41-50ys (n=9) > 50ys (n=3)
20 LQTS Mutations - Pathogenic Basis for ~10% of SIDS or SUID Ackerman et al. JAMA 286: , 2001 Tester Ackerman. Cardiovasc Res 67:388-96, 2005 Arnestad Schwartz. Circulation 115:361-67, 2007
21 SUDS/SIDS Molecular Autopsy 1. In the setting of autopsy negative SUDS, comprehensive or targeted (RYR2, KCNQ1, KCNH2, and SCN5A) ion channel genetic testing may be considered in an attempt to establish probable cause and manner of death and to facilitate the identification of potentially at-risk relatives and is recommended if circumstantial evidence points towards a clinical diagnosis of LQTS or CPVT specifically (such as emotional stress, acoustic trigger, drowning as the trigger of death). Ackerman, Priori, et al. Heart Rhythm 8: , 2011 (HRS/EHRA)
22 Next Generation Whole Exome Sequencing Whole exome sequencing (WES) allows for simultaneous mutational analysis of a patient s entire library of genes! Gene specific targeted analysis
23 Next Generation Whole Exome Sequencing 10% 29 consecutive sudden death cases (21 males, years) collected at the Office of the Gene specific Medical Examiner, Cook County, Illinois from targeted analysis January 2012 to December 2013 were referred to Mayo Clinic for molecular autopsy. Will Ackerman. HRS 2015
24 RyR2 Cytosol SR lumen Clinically Actionable Variants 1 1 N 1 N4782S Y462S FKBP12.6 Binding Domain C yo white male found in bed, equivocal autopsy. 14 yo white male, found unresponsive on floor after playing/exertion, negative autopsy. 27 yo black female, sudden collapse, equivocal autopsy noting cardiomyopathy. MYH7 R783H IQ domain Colied-Coil region Actin binding domains ATP binding Four MYH7 (β-myosin heavy chain) Subunits
25 Molecular Autopsy s 3 Achilles Heels 1. Cost Insurance companies do NOT like to pay for things when you have died! 2. Medical Examiner s SOP Paraffin-embedded tissue is NOT DNA friendly! 3. Interpreting the Molecular Autopsy X does NOT always mark the spot!
26 Molecular Autopsy of SCD - Need blood spot card, blood in EDTA, or frozen tissue Tissue is the Issue!! Carturan, Tester Thiene, Ackerman. Am J Clin Pathol 129: , 2008
27 Molecular Autopsy of SCD 1. For all SUDS and SIDS cases, collection of a tissue - sample Need is blood recommended spot for subsequent DNA analysis/genetic testing. card, blood in EDTA, or frozen tissue Ackerman, Priori, et al. Heart Rhythm 8: , 2011 Tissue is the Issue!! Carturan, Tester Thiene, Ackerman. Am J Clin Pathol 129: , 2008
28 Genetic Testing s Achilles Heel Is the X that marks the spot truly THE disease-causing mutation? What s the Background Noise Rate? What s the Signal-to-Noise Ratio?
29 Sudden Cardiac Death in the Young Autopsy Negative SUD is NOT a Good Phenotype! Autopsy Negative LQTS 15% CPVT 10% BrS 3% Autopsy Positive KCNQ1, KCNH2, SCN5A, RYR2 Tester and Ackerman. Pediatric Cardiology 33: , 2012
30 Background Noise Issue % KCNQ1, KCNH2, SCN5A, RYR2 = ~5%
31 Postmortem Genetic Testing - Maybe Test Result? Possible Deleterious Variant of Uncertain Significance (VUS) Genetic Purgatory is a Real Place and its Scary!
32 Case Presentation Ackerman. Heart Rhythm 2015
33 Case Presentation L537P Ackerman. Heart Rhythm 2015
34 Case Presentation = L537P-SCN5A = BrS1
35 Kapplinger Ackerman. Circ CV Genet 2015 (in press) Genetic Purgatory is Real L537P VUS < 10% POP
36 Case Presentation L537P WILDTYPE
37 Case Presentation = L537P-SCN5A = + = L537P-SCN5A = BrS1 One Hell of Situation! (PJS)
38 The State of the Molecular Autopsy - 1. ~25% of autopsy negative SUD and 10% of SIDS - Channelopathic! 2. Should postmortem genetic testing become a standard part of the conventional autopsy for autopsy negative SUD? 3. Formalin-fixed paraffin embedded tissue is the enemy of a comprehensive molecular autopsy. 4. X does NOT always mark the spot!
39 WINDLAND Smith Rice Sudden Death Genomics Laboratory Dr. Scholl Foundation, CJ Foundation for SIDS Hannah Wernke Memorial Foundation Sheikh Zayed Saif Mohammed Al Nahyan Fund National Institutes of Health
40 WINDLAND Smith Rice Sudden Death Genomics Laboratory To heal the sick and advance the science Dr. Charles W. Mayo
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