Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths

Forensic Science International

Volumn 237, Issue , 2014, Pages 90-99

  Wang, Dawei ^a   Shah, Krunal R ^a   Um, Sung Yon ^a   Eng, Lucy S ^a   Zhou, Bo ^a   Lin, Ying ^a   Mitchell, Adele A ^a   Nicaj, Leze ^a   Prinz, Mechthild ^a   McDonald, Thomas V ^b   Sampson, Barbara A ^a   Tang, Yingying ^a  

^a Office of Chief Medical Examiner New York   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Arrhythmia; Epidemiology; Genetics testing; Ion channels; Sudden death

Indexed keywords

POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNQ1; PROTEIN; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5; ERG1 POTASSIUM CHANNEL; KCNE1 PROTEIN, HUMAN; KCNE2 PROTEIN, HUMAN; POTASSIUM CHANNEL HERG; RYANODINE RECEPTOR; SCN5A PROTEIN, HUMAN; VOLTAGE GATED POTASSIUM CHANNEL;

ADOLESCENT; ADULT; AGE; AGE DISTRIBUTION; ARTICLE; AUTOPSY; CARDIAC CHANNELOPATHY; CHILD; CONTROLLED STUDY; ETHNIC DIFFERENCE; FEMALE; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; INFANT; KCNE1 GENE; KCNE2 GENE; KCNH2 GENE; KCNQ1 GENE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RACE DIFFERENCE; RYR2 GENE; SCHOOL CHILD; SCN5A GENE; SUDDEN DEATH; SURVIVAL; ANCESTRY GROUP; CHANNELOPATHY; DEATH, SUDDEN, CARDIAC; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MIDDLE AGED; MUTATION; NEWBORN; UNITED STATES; YOUNG ADULT;

ADOLESCENT; ADULT; CHANNELOPATHIES; CHILD; CHILD, PRESCHOOL; CONTINENTAL POPULATION GROUPS; DEATH, SUDDEN, CARDIAC; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; KCNQ1 POTASSIUM CHANNEL; MALE; MIDDLE AGED; MUTATION; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; POTASSIUM CHANNELS, VOLTAGE-GATED; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; UNITED STATES; YOUNG ADULT;

EID: 84896076551     PISSN: 03790738     EISSN: 18726283     Source Type: Journal    
DOI: 10.1016/j.forsciint.2014.01.014     Document Type: Article

References (45)

1. Ackerman M.J., Tester D.J., Driscoll D.J. Molecular autopsy of sudden unexplained death in the young. Am. J. Forensic Med. Pathol. 2001, 22:105-111.
2. Mathews T.J., MacDorman M.F. Infant mortality statistics from the 2008 period linked birth/infant death data set. Natl. Vital Stat. Rep. 2012, 60:27.
3. Arnestad M., Crotti L., Rognum T.O., Insolia R., Pedrazzini M., Ferrandi C., et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007, 115:361-367.
4. Chugh S.S., Senashova O., Watts A., Tran P.T., Zhou Z., Gong Q., et al. Postmortem molecular screening in unexplained sudden death. J. Am. Coll. Cardiol. 2004, 43:1625-1629.
5. Gladding P.A., Evans C.A., Crawford J., Chung S.K., Vaughan A., Webster D., et al. Posthumous diagnosis of long QT syndrome from neonatal screening cards. Heart Rhythm 2010, 7:481-486.
6. Skinner J.R., Crawford J., Smith W., Aitken A., Heaven D., Evans C.A., et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1-40 year olds. Heart Rhythm 2011, 8:412-419.
7. Tester D.J., Ackerman M.J. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J. Am. Coll. Cardiol. 2007, 49:240-246.
8. Tester D.J., Medeiros-Domingo A., Will M.L., Haglund C.M., Ackerman M.J. Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin. Proc. 2012, 87:524-539.
9. Centers for Disease Control and Prevention Guidelines for death scene investigation of sudden unexplained infant deaths: recommendations of the interagency panel on sudden infant death syndrome. MMWR Morb. Mort. Wkly. 1996, 45:1-22.
10. Basso C., Burke M., Fornes P., Gallagher P.J., De Gouveia R.H., Sheppard M., et al. Guidelines for autopsy investigation of sudden cardiac death. Pathologica 2010, 102:391-404.
11. Shields L.B., Hunsaker J.C., Corey T.S., Stewart D. Is SIDS on the rise??. J. Ky. Med. Assoc. 2007, 105:343-353.
12. Michaud K., Mangin P., Elger B.S. Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices. Int. J. Legal Med. 2011, 125:359-366.
13. Tester D.J., Ackerman M.J. Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Annu. Rev. Med. 2009, 60:69-84.
14. den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 2000, 15:7-12.
15. Exome Variant Server NGESPE, Seattle, WA, (accessed 13.06.13). http://evs.gs.washington.edu/EVS/.
16. Abecasis G.R., Auton A., Brooks L.D., DePristo M.A., Durbin R.M., Handsaker R.E., et al. An integrated map of genetic variation from 1092 human genomes. Nature 2012, 491:56-65.
17. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., et al. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.
18. Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 2009, 4:1073-1081.
19. Population of Infants CaTbRE, NYC 2010 Census, (accessed 30.10.13). http://www.nyc.gov/html/dcp/html/census/demo_tables_2010.shtml.
20. Richards C.S., Bale S., Bellissimo D.B., Das S., Grody W.W., Hegde M.R., et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet. Med. 2008, 10:294-300.
21. Flanagan S.E., Patch A.M., Ellard S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet. Test. Mol. Biomark. 2010, 14:533-537.
22. Frazer K.A., Murray S.S., Schork N.J., Topol E.J. Human genetic variation and its contribution to complex traits. Nat. Rev. Genet. 2009, 10:241-251.
23. Tester D.J., Will M.L., Haglund C.M., Ackerman M.J. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005, 2:507-517.
24. Yang P., Kanki H., Drolet B., Yang T., Wei J., Viswanathan P.C., et al. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation 2002, 105:1943-1948.
25. McCrossan Z.A., Roepke T.K., Lewis A., Panaghie G., Abbott G.W. Regulation of the Kv2.1 potassium channel by MinK and MiRP1. J. Membr. Biol. 2009, 228:1-14.
26. Sesti F., Abbott G.W., Wei J., Murray K.T., Saksena S., Schwartz P.J., et al. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc. Natl. Acad. Sci. U. S. A. 2000, 97:10613-10618.
27. Wu J., Shimizu W., Ding W.G., Ohno S., Toyoda F., Itoh H., et al. KCNE2 modulation of Kv4.3 current and its potential role in fatal rhythm disorders. Heart Rhythm 2010, 7:199-205.
28. Tester D.J., Ackerman M.J. Sudden infant death syndrome: how significant are the cardiac channelopathies. Cardiovasc. Res. 2005, 67:388-396.
29. Plant L.D., Bowers P.N., Liu Q., Morgan T., Zhang T., State M.W., et al. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J. Clin. Invest. 2006, 116:430-435.
30. Lunetta P., Levo A., Laitinen P.J., Fodstad H., Kontula K., Sajantila A. Molecular screening of selected long QT syndrome (LQTS) mutations in 165 consecutive bodies found in water. Int. J. Legal Med. 2003, 117:115-117.
31. Allegue C., Gil R., Blanco-Verea A., Santori M., Rodriguez-Calvo M., Concheiro L., et al. Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Int. J. Legal Med. 2011, 125:565-572.
32. Barnett E., Halverson J. Disparities in premature coronary heart disease mortality by region and urbanicity among black and white adults ages 35-64, 1985-1995. Public Health Rep. 2000, 115:52-64.
33. Callow A.D. Cardiovascular disease 2005--the global picture. Vasc. Pharmacol. 2006, 45:302-307.
34. Ferdinand K.C. African American heart failure trial: role of endothelial dysfunction and heart failure in African Americans. Am. J. Cardiol. 2007, 99:3D-6D.
35. Fincher C., Williams J.E., MacLean V., Allison J.J., Kiefe C.I., Canto J. Racial disparities in coronary heart disease: a sociological view of the medical literature on physician bias. Ethn. Dis. 2004, 14:360-371.
36. Tester D.J., Spoon D.B., Valdivia H.H., Makielski J.C., Ackerman M.J. Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin. Proc. 2004, 79:1380-1384.
37. Priori S.G., Napolitano C., Memmi M., Colombi B., Drago F., Gasparini M., et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002, 106:69-74.
38. Schwartz P.J., Priori S.G., Spazzolini C., Moss A.J., Vincent G.M., Napolitano C., et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103:89-95.
39. Shuraih M., Ai T., Vatta M., Sohma Y., Merkle E.M., Taylor E., et al. A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents. J. Cardiovasc. Electrophysiol. 2007, 18:434-440.
40. Itoh H., Shimizu W., Hayashi K., Yamagata K., Sakaguchi T., Ohno S., et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm 2010, 7:1411-1418.
41. Chen J., Weber M., Um S.Y., Walsh C.A., Tang Y., McDonald T.V. A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L. Pacing Clin. Electrophysiol. 2011, 34:1652-1664.
42. Krishnan Y., Zheng R., Walsh C., Tang Y., McDonald T.V. Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype. Pacing Clin. Electrophysiol. 2012, 35:3-16.
43. Andreasen C., Refsgaard L., Nielsen J.B., Sajadieh A., Winkel B.G., Tfelt-Hansen J., et al. Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data. Can. J. Cardiol. 2013, 29(9):1104-1109.
44. Refsgaard L., Holst A.G., Sadjadieh G., Haunso S., Nielsen J.B., Olesen M.S. High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur. J. Hum. Genet. 2012, 20:905-908.
45. Risgaard B., Jabbari R., Refsgaard L., Holst A., Haunso S., Sadjadieh A., et al. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin. Genet. 2013, 84(5):489-495.