Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

International Journal of Legal Medicine

Volumn 125, Issue 4, 2011, Pages 565-572

  Allegue, Catarina ^a,b   Gil, Rocio ^a,b   Blanco Verea, Alejandro ^a,b   Santori, Montserrat ^a,b   Rodríguez Calvo, Marisol ^c   Concheiro, Luis ^c   Carracedo, Ángel ^b   Brion, María ^a,b  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

Brugada syndrome; Genetic screening; Hypertrophic cardiomyopathy; Long QT syndrome; Mutation detection; Sudden cardiac death

Indexed keywords

CARDIAC MYOSIN; CARRIER PROTEIN; ERG1 POTASSIUM CHANNEL; MYH7 PROTEIN, HUMAN; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN; MYOSIN-BINDING PROTEIN C; POTASSIUM CHANNEL HERG; POTASSIUM CHANNEL KCNQ1;

ADULT; AGED; ALLELE; ARTICLE; BRUGADA SYNDROME; CAUSE OF DEATH; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HEART MUSCLE; HETEROZYGOTE DETECTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; SUDDEN DEATH;

ADULT; AGED; ALLELES; BRUGADA SYNDROME; CARDIAC MYOSINS; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CAUSE OF DEATH; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; GENETIC VARIATION; HETEROZYGOTE DETECTION; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MYOCARDIUM; MYOSIN HEAVY CHAINS; PHENOTYPE; YOUNG ADULT;

EID: 79960214671     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-011-0572-7     Document Type: Article

References (34)

1. S Sen-Chowdhry WJ McKenna 2006 Sudden cardiac death in the young: a strategy for prevention by targeted evaluation Cardiology 105 4 196 206 16498243 10.1159/000091640 (Pubitemid 43725774)
2. R Virmani AP Burke A Farb 2001 Sudden cardiac death Cardiovasc Pathol 10 5 211 218 11673058 10.1016/S1054-8807(01)00091-6 1:STN:280: DC%2BD3Mrms12ntg%3D%3D (Pubitemid 32982881)
3. C Basso F Calabrese D Corrado G Thiene 2001 Postmortem diagnosis in sudden cardiac death victims: macroscopic, microscopic and molecular findings Cardiovasc Res 50 2 290 300 11334833 10.1016/S0008-6363(01)00261-9 1:CAS:528:DC%2BD3MXjtFGgtb4%3D (Pubitemid 32382156)
4. MS Rodriguez-Calvo M Brion C Allegue L Concheiro A Carracedo 2008 Molecular genetics of sudden cardiac death Forensic Sci Int 182 1-3 1 12 18992999 10.1016/j.forsciint.2008.09.013 1:CAS:528:DC%2BD1cXhsVers7rK
5. G Thiene D Corrado C Basso 2007 Arrhythmogenic right ventricular cardiomyopathy/dysplasia Orphanet J Rare Dis 2 5 10.1186/1750-1172-2-45
6. SS Chugh KL Kelly JL Titus 2000 Sudden cardiac death with apparently normal heart Circulation 102 6 649 654 10931805 1:STN:280:DC%2BD3cvhtV2gug%3D%3D (Pubitemid 30640665)
7. A Oliva R Brugada E D'Aloja I Boschi S Partemi J Brugada VL Pascali 2010 State of the art in forensic investigation of sudden cardiac death Am J Forensic Med Pathol 32 1 1 16 10.1097/PAF.0b013e3181c2dc96
8. C Basso M Burke P Fornes PJ Gallagher RH de Gouveia M Sheppard T Gvan A der Wal 2008 Guidelines for autopsy investigation of sudden cardiac death Virchows Arch 452 1 11 18 17952460 10.1007/s00428-007-0505-5
9. M Brion C Allegue L Monserrat M Hermida A Castro-Beiras A Carracedo 2008 Large scale analysis of HCM mutations in sudden cardiac death Forensic Sci Int Genet Suppl Ser 1 549 550 10.1016/j.fsigss.2007.10.047
10. C Allegue R Gil P Sanchez-Diz M Torres I Quintela A Carracedo M Brion 2010 A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system Electrophoresis 31 10 1648 1655 20486126 10.1002/elps.201000022 1:CAS:528:DC%2BC3cXmsVSnsbs%3D
11. C Donger I Denjoy M Berthet N Neyroud C Cruaud M Bennaceur G Chivoret K Schwartz P Coumel P Guicheney 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome Circulation 96 9 2778 2781 9386136 1:CAS:528:DyaK2sXnvFajsL0%3D (Pubitemid 27500069)
12. JM Lupoglazoff I Denjoy E Villain V Fressart F Simon A Bozio M Berthet N Benammar B Hainque P Guicheney 2004 Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations J Am Coll Cardiol 43 5 826 830 14998624 10.1016/j.jacc.2003.09.049 1:CAS:528:DC%2BD2cXivVertro%3D (Pubitemid 38296483)
13. I Splawski J Shen KW Timothy MH Lehmann S Priori JL Robinson AJ Moss PJ Schwartz JA Towbin GM Vincent MT Keating 2000 Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 10 1178 1185 10973849 1:CAS:528:DC%2BD3cXntVCisL8%3D
14. T Tanaka R Nagai H Tomoike S Takata K Yano K Yabuta N Haneda O Nakano A Shibata T Sawayama H Kasai Y Yazaki Y Nakamura 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome Circulation 95 3 565 567 9024139 1:CAS:528:DyaK2sXhsVCis7s%3D (Pubitemid 27063028)
15. JD Kapplinger DJ Tester BA Salisbury JL Carr C Harris-Kerr GD Pollevick AA Wilde MJ Ackerman 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test Heart Rhythm 6 9 1297 1303 19716085 10.1016/j.hrthm.2009.05.021
16. H Morita MG Larson SC Barr RS Vasan CJ O'Donnell JN Hirschhorn D Levy D Corey CE Seidman JG Seidman EJ Benjamin 2006 Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study Circulation 113 23 2697 2705 16754800 10.1161/CIRCULATIONAHA.105.593558 (Pubitemid 43947987)
17. N Cardim A Perrot S Santos P Morgado M Padua S Ferreira RP Reis C Monteiro T Ferreira JM Correia KJ Osterziel 2005 Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene Rev Port Cardiol 24 12 1463 1476 16566405 (Pubitemid 43342155)
18. SL Van Driest VC Vasile SR Ommen ML Will AJ Tajik MJ Gersh BJAckerman 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy J Am Coll Cardiol 44 9 1903 1910 15519027 10.1016/j.jacc.2004.07.045 (Pubitemid 39424094)
19. G Choi LJ Kopplin DJ Tester ML Will CM Haglund MJ Ackerman 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes Circulation 110 15 2119 2124 15466642 10.1161/01.CIR.0000144471.98080. CA (Pubitemid 39372488)
20. LA Larsen M Christiansen J Vuust PS Andersen 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants Hum Mutat 13 4 318 327 10220146 10.1002/(SICI)1098-1004(1999) 13:4<318::AID-HUMU9>3.0.CO;2-F 1:CAS:528:DyaK1MXisFehtr4%3D (Pubitemid 29307077)
21. I Splawski J Shen KW Timothy GM Vincent MH Lehmann MT Keating 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1 Genomics 51 1 86 97 9693036 10.1006/geno.1998.5361 1:CAS:528:DyaK1cXltFegsrc%3D (Pubitemid 28373376)
22. JJ Struijk JK Kanters MP Andersen T Hardahl C Graff M Christiansen E Toft 2006 Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology Med Biol Eng Comput 44 7 543 549 16937190 10.1007/s11517-006- 0061-1 1:STN:280:DC%2BD28rht1Ciug%3D%3D (Pubitemid 44184466)
23. S Kapa DJ Tester BA Salisbury C Harris-Kerr MS Pungliya M Alders AA Wilde MJ Ackerman 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants Circulation 120 18 1752 1760 19841300 10.1161/CIRCULATIONAHA.109.863076 1:CAS:528:DC%2BD1MXhtlensr%2FI
24. C Napolitano SG Priori PJ Schwartz R Bloise E Ronchetti J Nastoli G Bottelli M Cerrone S Leonardi 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice JAMA 294 23 2975 2980 16414944 10.1001/jama.294.23.2975 1:CAS:528:DC%2BD2MXhtlemt7fF (Pubitemid 41817658)
25. RE Hershberger N Norton A Morales D Li JD Siegfried J Gonzalez-Quintana 2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy Circ Cardiovasc Genet 3 2 155 161 20215591 10.1161/CIRCGENETICS.109.912345 1:CAS:528:DC%2BC3cXmvF2murY%3D
26. I Olivotto F Girolami MJ Ackerman S Nistri JM Bos E Zachara SR Ommen JL Theis RA Vaubel F Re C Armentano C Poggesi F Torricelli F Cecchi 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy Mayo Clin Proc 83 6 630 638 18533079 10.4065/83.6.630 1:CAS:528:DC%2BD1cXnvVCqtrw%3D (Pubitemid 351810562)
27. ER Behr C Dalageorgou M Christiansen P Syrris S Hughes MT Tome Esteban E Rowland S Jeffery WJ McKenna 2008 Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families Eur Heart J 29 13 1670 1680 18508782 10.1093/eurheartj/ehn219 (Pubitemid 351957547)
28. JR Gimeno J Lacunza A Garcia-Alberola MC Cerdan MJ Oliva E Garcia-Molina M Lopez-Ruiz F Castro J Gonzalez-Carrillo G de la Morena M Valdes 2009 Penetrance and risk profile in inherited cardiac diseases studied in a dedicated screening clinic Am J Cardiol 104 3 406 410 19616675 10.1016/j.amjcard.2009.03. 055
29. N Hofman HL Tan SA Clur M Alders IM van Langen AA Wilde 2007 Contribution of inherited heart disease to sudden cardiac death in childhood Pediatrics 120 4 e967 e973 17908752 10.1542/peds.2006-3751 (Pubitemid 47549542)
30. HL Tan N Hofman IM van Langen AC van der Wal AA Wilde 2005 Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives Circulation 112 2 207 213 15998675 10.1161/CIRCULATIONAHA.104.522581 (Pubitemid 40982303)
31. JR Gimeno MJ Oliva J Lacunza AG Alberola M Sabater J Martinez-Sanchez D Saura A Romero M Valdes 2010 Characteristics of sudden death in inherited heart disease Rev Esp Cardiol 63 3 268 276 20196987 10.1016/S0300-8932(10)70085-3
32. I Christiaans K van Engelen IM van Langen E Birnie GJ Bonsel PM Elliott AA Wilde 2010 Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers Europace 12 3 313 321 20118111 10.1093/europace/eup431
33. K Michaud P Mangin BS Elger 2010 Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices Int J Leg Med 10.1007/s00414-010-0474-0
34. M Brion I Quintela B Sobrino M Torres C Allegue A Carracedo 2010 New technologies in the genetic approach to sudden cardiac death in the young Forensic Sci Int 203 1-3 15 24 20705407 10.1016/j.forsciint.2010.07.015 1:CAS:528:DC%2BC3cXhsVGnsrnJ