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Erschienen in:

24.02.2021 | Kardiomyopathie | Konsensuspapiere Zur Zeit gratis

Postmortale molekulargenetische Untersuchungen (molekulare Autopsie) bei kardiovaskulären und bei ungeklärten Todesfällen

Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK), Deutschen Gesellschaft für Humangenetik (GfH), Deutschen Gesellschaft für Pathologie (DGP), Deutschen Gesellschaft für Rechtsmedizin (DGRM)

verfasst von: Univ.-Prof. Dr. med. Eric Schulze-Bahr, Reinhard B. Dettmeyer, Karin Klingel, Silke Kauferstein, Cordula Wolf, Hideo A. Baba, Rainer M. Bohle, Roman Gebauer, Hendrik Milting, Uwe Schmidt, Benjamin Meder, Olaf Rieß, Thomas Paul, Thomas Bajanowski, Heribert Schunkert, Deutsche Gesellschaft für Kardiologie – Herz- und Kreislaufforschung e. V. (DGK), Deutsche Gesellschaft für Pädiatrische Kardiologie und Angeborene Herzfehler e. V. (DGPK), Deutsche Gesellschaft für Humangenetik e. V. (GfH), Deutsche Gesellschaft für Rechtsmedizin e. V. (DGRM), Deutsche Gesellschaft für Pathologie e. V. (DGP)

Erschienen in: Die Kardiologie | Ausgabe 2/2021

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Zusammenfassung

Obduktionen (Sektionen oder Leichenöffnungen) aus klinischer oder forensischer Indikation bei unklaren, frühzeitigen (in der Regel <40. Lebensjahr, im Einzelfall auch später) oder kardiovaskulären Todesfällen dienen neben der definitiven Ursachenklärung auch der Erkennung bzw. der Abgrenzung von genetischen Ursachen. Diese sind besonders in präventiver Hinsicht für biologisch verwandte Familienmitglieder relevant, v. a. nach umfänglichen Obduktionen ohne Feststellung der Todesursache („mors sine materia“). Eine molekulare Autopsie zielt auf eine postmortale Aufklärung der Todesursache durch die Identifizierung bzw. Bestätigung einer erblichen kardiovaskulären Erkrankung. In dem vorliegenden Konsensuspapier werden Expertenempfehlungen zur derzeitigen Notwendigkeit, Indikation und Durchführung einer molekularen Autopsie formuliert. Zusätzlich sollte bei dem Verdacht auf eine genetisch bedingte kardiovaskuläre Erkrankung eine systematische klinische (und ggf. genetische) Untersuchung von Familienmitgliedern durchgeführt werden.

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Ackerman M, Atkins DL, Triedman JK (2016) Sudden cardiac death in the young. Circulation 133:1006–1026PubMedPubMedCentral

Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R et al (2011a) 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 8:1308–1339PubMed

Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R et al (2011b) 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). Europace 13:1077–1109PubMed

Adabag AS, Luepker RV, Roger VL, Gersh BJ (2010) Sudden cardiac death: epidemiology and risk factors. Nat Rev Cardiol 7:216–225PubMedPubMedCentral

Al-Khatib SM, Stevenson WG, Ackerman MJ, Bryant WJ, Callans DJ, Curtis AB, Deal BJ, Dickfeld T, Field ME, Fonarow GC et al (2018) 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Circulation 138:e272–e391PubMed

Anastasakis A, Papatheodorou E, Ritsatos K, Protonotarios N, Rentoumi V, Gatzoulis K, Antoniades L, Agapitos E, Koutsaftis P, Spiliopoulou C et al (2018) Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening. Europace 20:472–480PubMed

Ashar FN, Mitchell RN, Albert CM, Newton-Cheh C, Brody JA, Muller-Nurasyid M, Moes A, Meitinger T, Mak A, Huikuri H et al (2018) A comprehensive evaluation of the genetic architecture of sudden cardiac arrest. Eur Heart J 39:3961–3969PubMedPubMedCentral

Asif IM, Harmon KG (2017) Incidence and etiology of sudden cardiac death: new updates for athletic departments. Sports Health 9:268–279PubMedPubMedCentral

Bagnall RD, Das KJ, Duflou J, Semsarian C (2014) Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm 11:655–662PubMed

10.

Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J et al (2016) A prospective study of sudden cardiac death among children and young adults. N Engl J Med 374:2441–2452PubMed

11.

Basso C, Aguilera B, Banner J, Cohle S, d’Amati G, de Gouveia RH, di Gioia C, Fabre A, Gallagher PJ, Leone O et al (2017) Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch 471:691–705PubMedPubMedCentral

12.

Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M, Thiene G, van der Wal A (2008) Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch 452:11–18PubMed

13.

Basso C, Carturan E, Pilichou K, Rizzo S, Corrado D, Thiene G (2010) Sudden cardiac death with normal heart: molecular autopsy. Cardiovasc Pathol 19:321–325PubMed

14.

Baudhuin LM, Leduc C, Train LJ, Avula R, Kluge ML, Kotzer KE, Lin PT, Ackerman MJ, Maleszewski JJ (2017) Technical advances for the clinical genomic evaluation of sudden cardiac death: verification of next-generation sequencing panels for hereditary cardiovascular conditions using formalin-fixed paraffin-embedded tissues and dried blood spots. Circ Cardiovasc Genet 10:e1844PubMed

15.

Behr ER, Casey A, Sheppard M, Wright M, Bowker TJ, Davies MJ, McKenna WJ, Wood DA (2007) Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death. Heart 93:601–605PubMedPubMedCentral

16.

Behrens T, Lehmann C, Luttmann S (2011) National mortality register. Dtsch Arztebl Int 108:96 (author reply 97–98)PubMedPubMedCentral

17.

Bode PK, Cathomas G, Vogt P, Moch H (2014) Clinical autopsy. Praxis (Bern 1994) 103:65–69 (quiz 70–61)

18.

Brinkmann B (1999) Harmonization of medico-legal autopsy rules. Committee of Ministers. Council of Europe. Int J Legal Med 113:1–14PubMed

19.

Caforio AL, Pankuweit S, Arbustini E, Basso C, Gimeno-Blanes J, Felix SB, Fu M, Helio T, Heymans S, Jahns R et al (2013) Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 34:2636–2648 (2648a–2648d)PubMed

20.

Caforio ALP, Adler Y, Agostini C, Allanore Y, Anastasakis A, Arad M, Bohm M, Charron P, Elliott PM, Eriksson U et al (2017) Diagnosis and management of myocardial involvement in systemic immune-mediated diseases: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Disease. Eur Heart J 38:2649–2662PubMed

21.

Campbell RM, Berger S, Drezner J (2009) Sudden cardiac arrest in children and young athletes: the importance of a detailed personal and family history in the pre-participation evaluation. Br J Sports Med 43:336–341PubMed

22.

Campuzano O, Beltramo P, Fernandez A, Iglesias A, Garcia L, Allegue C, Sarquella-Brugada G, Coll M, Perez-Serra A, Mademont-Soler I et al (2018) Molecular autopsy in a cohort of infants died suddenly at rest. Forensic Sci Int Genet 37:54–63PubMed

23.

Campuzano O, Sanchez-Molero O, Fernandez A, Mademont-Soler I, Coll M, Perez-Serra A, Mates J, Del Olmo B, Pico F, Nogue-Navarro L et al (2017) Sudden arrhythmic death during exercise: a post-mortem genetic analysis. Sports Med 47:2101–2115PubMed

24.

Cerrone M, Priori SG (2011) Genetics of sudden death: focus on inherited channelopathies. Eur Heart J 32:2109–2118PubMed

25.

Christiansen SL, Hertz CL, Ferrero-Miliani L, Dahl M, Weeke PE, LuCamp, Ottesen GL, Frank-Hansen R, Bundgaard H, Morling N (2016) Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. Eur J Hum Genet 24:1797–1802PubMedPubMedCentral

26.

Connolly AJ, Finkbeiner WE, Ursell PC, Davis RL, Finkbeiner WE (2016) Autopsy pathology: a manual and atlas, 3. Aufl. Elsevier, Philadelphia

27.

Corrado D, Basso C, Pavei A, Michieli P, Schiavon M, Thiene G (2006) Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 296:1593–1601PubMed

28.

de Noronha SV, Behr ER, Papadakis M, Ohta-Ogo K, Banya W, Wells J, Cox S, Cox A, Sharma S, Sheppard MN (2014) The importance of specialist cardiac histopathological examination in the investigation of young sudden cardiac deaths. Europace 16:899–907PubMed

29.

Dewar LJ, Alcaide M, Fornika D, D’Amato L, Shafaatalab S, Stevens CM, Balachandra T, Phillips SM, Sanatani S, Morin RD et al (2017) Investigating the genetic causes of sudden unexpected death in children through targeted next-generation sequencing analysis. Circ Cardiovasc Genet 10. https://doi.org/10.1161/CIRCGENETICS.116.001738

30.

Elger BS, Michaud K, Fellmann F, Mangin P (2010) Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases. Clin Genet 77:287–292PubMed

31.

Falk E, Nakano M, Bentzon JF, Finn AV, Virmani R (2013) Update on acute coronary syndromes: the pathologists’ view. Eur Heart J 34:719–728PubMed

32.

ellmann F, van El CG, Charron P, Michaud K, Howard HC, Boers SN, Clarke AJ, Duguet AM, Forzano F, Kauferstein S, Kayserili H, Lucassen A, Mendes A, Patch C, Radojkovic D, Rial-Sebbag E, Sheppard MN, Tasse AM, Temel SG, Sajantila A, Basso C, Wilde AAM, Cornel MC, Benjamin C, Borry P, Clarke A, Cordier C, Cornel M, van El C, Forzano F, Howard H, Kayserili H, Melegh B, Mendes A, Perola M, Peterlin B, Radojkovic D, Rial-Sebbag E, Rogowski W, Soller M, Stefansdottir V, de Wert G (2019) European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Eur J Hum Genet 27:1763–1773

33.

Gollob MH, Blier L, Brugada R, Champagne J, Chauhan V, Connors S, Gardner M, Green MS, Gow R, Hamilton R et al (2011) Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Can J Cardiol 27:232–245PubMed

34.

Gray B, Tester DJ, Wong LC, Chanana P, Jaye A, Evans JM, Baruteau AE, Evans M, Fleming P, Jeffrey I et al (2018) Noncardiac genetic predisposition in sudden infant death syndrome. Genet Med 21:641–649PubMed

35.

Harmon KG, Asif IM, Maleszewski JJ, Owens DS, Prutkin JM, Salerno JC, Zigman ML, Ellenbogen R, Rao AL, Ackerman MJ et al (2016) Incidence and etiology of sudden cardiac arrest and death in high school athletes in the United States. Mayo Clin Proc 91:1493–1502PubMed

36.

Hertz CL, Christiansen SL, Larsen MK, Dahl M, Ferrero-Miliani L, Weeke PE, Pedersen O, Hansen T, Grarup N, Ottesen GL et al (2016) Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet 24:817–822PubMed

37.

Hofman N, Tan HL, Alders M, Kolder I, de Haij S, Mannens MM, Lombardi MP, Dit Deprez RH, van Langen I, Wilde AA (2013) Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years’ experience. Circulation 128:1513–1521PubMed

38.

Krous HF, Beckwith JB, Byard RW, Rognum TO, Bajanowski T, Corey T, Cutz E, Hanzlick R, Keens TG, Mitchell EA (2004) Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics 114:234–238PubMed

39.

Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J et al (2017) Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome. J Am Coll Cardiol 69:2134–2145PubMedPubMedCentral

40.

Landry CH, Allan KS, Connelly KA, Cunningham K, Morrison LJ, Dorian P, Rescu I (2017) Sudden cardiac arrest during participation in competitive sports. N Engl J Med 377:1943–1953PubMedPubMedCentral

41.

Liberthson RR (1996) Sudden death from cardiac causes in children and young adults. N Engl J Med 334:1039–1044PubMed

42.

Madea B, Rothschild M (2010) The post mortem external examination: determination of the cause and manner of death. Dtsch Arztebl Int 107:575–586 (quiz 587–578)PubMedPubMedCentral

43.

Marijon E, Tafflet M, Celermajer DS, Dumas F, Perier MC, Mustafic H, Toussaint JF, Desnos M, Rieu M, Benameur N et al (2011) Sports-related sudden death in the general population. Circulation 124:672–681PubMed

44.

Maron BJ, Doerer JJ, Haas TS, Tierney DM, Mueller FO (2009) Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980–2006. Circulation 119:1085–1092PubMed

45.

Mathews TJ, MacDorman MF (2012) Infant mortality statistics from the 2008 period linked birth/infant death data set. Natl Vital Stat Rep 60:1–27PubMed

46.

McGarvey CM, O’Regan M, Cryan J, Treacy A, Hamilton K, Devaney D, Matthews T (2012) Sudden unexplained death in childhood (1–4 years) in Ireland: an epidemiological profile and comparison with SIDS. Arch Dis Child 97:692–697PubMed

47.

McGorrian C, Constant O, Harper N, O’Donnell C, Codd M, Keelan E, Green A, O’Neill J, Galvin J, Mahon NG (2013) Family-based cardiac screening in relatives of victims of sudden arrhythmic death syndrome. Europace 15:1050–1058PubMed

48.

McGuire AL, Moore Q, Majumder M, Walkiewicz M, Eng CM, Belmont JW, Nassef S, Darilek S, Rutherford K, Pereira S et al (2016) The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res 26:1165–1169PubMedPubMedCentral

49.

Messer J (2009) Unexplained deaths in infancy, England and Wales, 2007. Health Stat Q 43:63–67

50.

Middleton O, Atherton D, Bundock E, Donner E, Friedman D, Hesdorffer D, Jarrell H, McCrillis A, Mena OJ, Morey M et al (2018) National Association of Medical Examiners position paper: recommendations for the investigation and certification of deaths in people with epilepsy. Epilepsia 59:530–543PubMedPubMedCentral

51.

Miles CJ, Behr ER (2016) The role of genetic testing in unexplained sudden death. Transl Res 168:59–73PubMed

52.

Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, Hickey KT, Ackerman MJ, Perez MV, Roden DM et al (2016) Enhancing literacy in cardiovascular genetics: a scientific statement from the American Heart Association. Circ Cardiovasc Genet 9:448–467PubMed

53.

Mont L, Pelliccia A, Sharma S, Biffi A, Borjesson M, Brugada Terradellas J, Carre F, Guasch E, Heidbuchel H, La Gerche A et al (2017) Pre-participation cardiovascular evaluation for athletic participants to prevent sudden death: position paper from the EHRA and the EACPR, branches of the ESC. Endorsed by APHRS, HRS, and SOLAECE. Eur J Prev Cardiol 24:41–69PubMed

54.

Morales A, Cowan J, Dagua J, Hershberger RE (2008) Family history: an essential tool for cardiovascular genetic medicine. Congest Heart Fail 14:37–45PubMed

55.

Neubauer J, Lecca MR, Russo G, Bartsch C, Medeiros-Domingo A, Berger W, Haas C (2017) Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet 25:404–409PubMedPubMedCentral

56.

Nunn LM, Lopes LR, Syrris P, Murphy C, Plagnol V, Firman E, Dalageorgou C, Zorio E, Domingo D, Murday V et al (2016) Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing. Europace 18:888–896PubMed

57.

Oliva A, Brugada R, D’Aloja E, Boschi I, Partemi S, Brugada J, Pascali VL (2011) State of the art in forensic investigation of sudden cardiac death. Am J Forensic Med Pathol 32:1–16PubMed

58.

Osselton MD (2010) United Kingdom and Ireland Association of Forensic Toxicologists: guidelines for forensic toxicology laboratories. Sci Justice 50:165PubMed

59.

Papadakis M, Papatheodorou E, Mellor G, Raju H, Bastiaenen R, Wijeyeratne Y, Wasim S, Ensam B, Finocchiaro G, Gray B et al (2018) The diagnostic yield of Brugada syndrome after sudden death with normal autopsy. J Am Coll Cardiol 71:1204–1214PubMed

60.

Pilmer CM, Kirsh JA, Hildebrandt D, Krahn AD, Gow RM (2014) Sudden cardiac death in children and adolescents between 1 and 19 years of age. Heart Rhythm 11:239–245PubMed

61.

Priori SG, Blomstrom-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G et al (2015) 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J 36:2793–2867PubMed

62.

Quenin P, Kyndt F, Mabo P, Mansourati J, Babuty D, Thollet A, Guyomarch B, Redon R, Barc J, Schott JJ et al (2017) Clinical yield of familial screening after sudden death in young subjects: the French experience. Circ Arrhythm Electrophysiol 10:e5236PubMed

63.

Ranthe MF, Winkel BG, Andersen EW, Risgaard B, Wohlfahrt J, Bundgaard H, Haunso S, Melbye M, Tfelt-Hansen J, Boyd HA (2013) Risk of cardiovascular disease in family members of young sudden cardiac death victims. Eur Heart J 34:503–511PubMed

64.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424PubMedPubMedCentral

65.

Sanchez O, Campuzano O, Fernandez-Falgueras A, Sarquella-Brugada G, Cesar S, Mademont I, Mates J, Perez-Serra A, Coll M, Pico F et al (2016) Natural and undetermined sudden death: value of post-mortem genetic investigation. PLoS ONE 11:e167358PubMedPubMedCentral

66.

Schulze-Bahr E, Klaasen S, Abdul-Khaliq H, Schunkert H (2015) Gendiagnostik bei kardiovaskulären Erkrankungen. Kardiologe 9:213–243

67.

Semsarian C, Ingles J, Wilde AA (2015) Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J 36:1290–1296PubMed

68.

Shanks GW, Tester DJ, Ackerman JP, Simpson MA, Behr ER, White SM, Ackerman MJ (2018) Importance of variant interpretation in whole-exome molecular autopsy: population-based case series. Circulation 137:2705–2715PubMed

69.

Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T et al (2011) Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm 8:412–419PubMed

70.

Stallmeyer B, Dittmann S, Schulze-Bahr E (2018) Genetic testing to prevent sudden cardiac death. Internist (Berl) 59:776–789

71.

Stone JR, Basso C, Baandrup UT, Bruneval P, Butany J, Gallagher PJ, Halushka MK, Miller DV, Padera RF, Radio SJ et al (2012) Recommendations for processing cardiovascular surgical pathology specimens: a consensus statement from the Standards and Definitions Committee of the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology. Cardiovasc Pathol 21:2–16PubMed

72.

Suktitipat B, Sathirareuangchai S, Roothumnong E, Thongnoppakhun W, Wangkiratikant P, Vorasan N, Krittayaphong R, Pithukpakorn M, Boonyapisit W (2017) Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome. PLoS ONE 12:e180056PubMedPubMedCentral

73.

Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA (2005) Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 112:207–213PubMed

74.

Tester DJ, Ackerman MJ (2007) Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol 49:240–246PubMed

75.

Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ (2004) 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 79:1380–1384PubMed

76.

Tester DJ, Wong LCH, Chanana P, Jaye A, Evans JM, FitzPatrick DR, Evans MJ, Fleming P, Jeffrey I, Cohen MC et al (2018) Cardiac genetic predisposition in sudden infant death syndrome. J Am Coll Cardiol 71:1217–1227PubMed

77.

Trachtenberg FL, Haas EA, Kinney HC, Stanley C, Krous HF (2012) Risk factor changes for sudden infant death syndrome after initiation of Back-to-Sleep campaign. Pediatrics 129:630–638PubMedPubMedCentral

78.

van der Werf C, Hendrix A, Birnie E, Bots ML, Vink A, Bardai A, Blom MT, Bosch J, Bruins W, Das CK et al (2016) Improving usual care after sudden death in the young with focus on inherited cardiac diseases (the CAREFUL study): a community-based intervention study. Europace 18:592–601PubMed

79.

van der Werf C, van Langen IM, Wilde AA (2010) Sudden death in the young: what do we know about it and how to prevent? Circ Arrhythm Electrophysiol 3:96–104PubMed

80.

van Driel B, Michels M, van der Velden J (2018) Molecular autopsy. Neth Heart J 26:471–472PubMedPubMedCentral

81.

Van Norstrand DW, Ackerman MJ (2009) Sudden infant death syndrome: do ion channels play a role? Heart Rhythm 6:272–278PubMed

82.

Vincent GM (2009) Sudden cardiac arrest in the young due to inherited arrhythmias: the importance of family care. Pacing Clin Electrophysiol 32(Suppl 2):S19–S22PubMed

83.

Vos A, van der Wal AC, Teeuw AH, Bras J, Vink A, Nikkels PGJ (2018) Cardiovascular causes of sudden unexpected death in children and adolescents (0–17 years): a nationwide autopsy study in the Netherlands. Neth Heart J 26:500–505PubMedPubMedCentral

84.

Wilde AA, Behr ER (2013) Genetic testing for inherited cardiac disease. Nat Rev Cardiol 10:571–583PubMed

85.

Wilhelm M, Bolliger SA, Bartsch C, Fokstuen S, Grani C, Martos V, Medeiros Domingo A, Osculati A, Rieubland C, Sabatasso S et al (2015) Sudden cardiac death in forensic medicine—Swiss recommendations for a multidisciplinary approach. Swiss Med Wkly 145:w14129PubMed

86.

Wilms HR, Midgley DJ, Morrow P, Stables S, Crawford J, Skinner JR (2012) Evaluation of autopsy and police reports in the investigation of sudden unexplained death in the young. Forensic Sci Med Pathol 8:380–389PubMed

87.

Winkel BG, Holst AG, Theilade J, Kristensen IB, Thomsen JL, Ottesen GL, Bundgaard H, Svendsen JH, Haunso S, Tfelt-Hansen J (2011) Nationwide study of sudden cardiac death in persons aged 1–35 years. Eur Heart J 32:983–990PubMed

88.

Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N et al (2012) The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. J Cardiovasc Electrophysiol 23:1092–1098PubMed

89.

Winkel BG, Risgaard B, Sadjadieh G, Bundgaard H, Haunso S, Tfelt-Hansen J (2014) Sudden cardiac death in children (1–18 years): symptoms and causes of death in a nationwide setting. Eur Heart J 35:868–875PubMed

90.

Woudstra L, Biesbroek PS, Emmens RW, Heymans S, Juffermans LJ, van Rossum AC, Niessen HW, Krijnen PA (2017) Lymphocytic myocarditis occurs with myocardial infarction and coincides with increased inflammation, hemorrhage and instability in coronary artery atherosclerotic plaques. Int J Cardiol 232:53–62PubMed

91.

Zack F, Kaden A, Riepenhausen S, Rentsch D, Kegler R, Büttner A (2017) Fehler bei der AuGsstellung der Todesbescheinigung. Rechtsmedizin 27:516–527

92.

Zhang L, Tester DJ, Lang D, Chen Y, Zheng J, Gao R, Corliss RF, Tang S, Kyle JW, Liu C et al (2016) Does sudden unexplained nocturnal death syndrome remain the autopsy-negative disorder: a gross, microscopic, and molecular autopsy investigation in southern China. Mayo Clin Proc 91:1503–1514PubMed

93.

Ackerman MJ, Zipes DP, Kovacs RJ, Maron BJ (2015) Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 10: The cardiac channelopathies: a scientific statement from the American Heart Association and American College of Cardiology. J Am Coll Cardiol 66:2424–2428PubMed

94.

Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, Rowland E, Jeffery S, McKenna WJ (2008) Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 29:1670–1680PubMed

95.

Bezzina CR, Lahrouchi N, Priori SG (2015) Genetics of sudden cardiac death. Circ Res 116:1919–1936PubMed

96.

Bonow RO, Nishimura RA, Thompson PD, Udelson JE (2015) Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 5: valvular heart disease: a scientific statement from the American Heart Association and American College of Cardiology. Circulation 132:e292–e297PubMed

97.

Braverman AC, Harris KM, Kovacs RJ, Maron BJ (2015) Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 7: aortic diseases, including Marfan syndrome: a scientific statement from the American Heart Association and American College of Cardiology. Circulation 132:e303–e309PubMed

98.

Corrado D, Pelliccia A, Heidbuchel H, Sharma S, Link M, Basso C, Biffi A, Buja G, Delise P, Gussac I et al (2010) Recommendations for interpretation of 12-lead electrocardiogram in the athlete. Eur Heart J 31:243–259PubMed

99.

de Noronha SV, Sharma S, Papadakis M, Desai S, Whyte G, Sheppard MN (2009) Aetiology of sudden cardiac death in athletes in the United Kingdom: a pathological study. Heart 95:1409–1414PubMed

100.

Drezner JA, Ackerman MJ, Anderson J, Ashley E, Asplund CA, Baggish AL, Borjesson M, Cannon BC, Corrado D, DiFiori JP et al (2013) Electrocardiographic interpretation in athletes: the ‘Seattle criteria’. Br J Sports Med 47:122–124PubMed

101.

Eckart RE, Scoville SL, Campbell CL, Shry EA, Stajduhar KC, Potter RN, Pearse LA, Virmani R (2004) Sudden death in young adults: a 25-year review of autopsies in military recruits. Ann Intern Med 141:829–834PubMed

102.

Finocchiaro G, Papadakis M, Robertus JL, Dhutia H, Steriotis AK, Tome M, Mellor G, Merghani A, Malhotra A, Behr E et al (2016) Etiology of sudden death in sports: insights from a United Kingdom Regional Registry. J Am Coll Cardiol 67:2108–2115PubMed

103.

Grani C, Chappex N, Fracasso T, Vital C, Kellerhals C, Schmied C, Saguner AM, Trachsel LD, Eser P, Michaud K et al (2016) Sports-related sudden cardiac death in Switzerland classified by static and dynamic components of exercise. Eur J Prev Cardiol 23:1228–1236PubMed

104.

Hammond-Haley M, Patel RS, Providencia R, Lambiase PD (2016) Exercise restrictions for patients with inherited cardiac conditions: current guidelines, challenges and limitations. Int J Cardiol 209:234–241PubMed

105.

Maron BJ, Epstein SE, Roberts WC (1986) Causes of sudden death in competitive athletes. J Am Coll Cardiol 7:204–214PubMed

106.

Maron BJ, Haas TS, Ahluwalia A, Murphy CJ, Garberich RF (2016) Demographics and epidemiology of sudden deaths in young competitive athletes: from the United States National Registry. Am J Med 129:1170–1177PubMed

107.

Maron BJ, Thompson PD, Ackerman MJ, Balady G, Berger S, Cohen D, Dimeff R, Douglas PS, Glover DW, Hutter AM Jr. et al (2007) Recommendations and considerations related to preparticipation screening for cardiovascular abnormalities in competitive athletes: 2007 update: a scientific statement from the American Heart Association Council on Nutrition, Physical Activity, and Metabolism: endorsed by the American College of Cardiology Foundation. Circulation 115:1643–1455PubMed

108.

Maron BJ, Udelson JE, Bonow RO, Nishimura RA, Ackerman MJ, Estes NA 3rd, Cooper LT Jr., Link MS, Maron MS (2015) Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: task force 3: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and myocarditis. Cardiology 132:e273–280

109.

Mohlenkamp S, Lehmann N, Breuckmann F, Brocker-Preuss M, Nassenstein K, Halle M, Budde T, Mann K, Barkhausen J, Heusch G et al (2008) Running: the risk of coronary events: prevalence and prognostic relevance of coronary atherosclerosis in marathon runners. Eur Heart J 29:1903–1910PubMed

110.

Oliva A, Grassi VM, Campuzano O, Brion M, Arena V, Partemi S, Coll M, Pascali VL, Brugada J, Carracedo A et al (2017) Medico-legal perspectives on sudden cardiac death in young athletes. Int J Legal Med 131:393–409PubMed

111.

Risgaard B, Winkel BG, Jabbari R, Behr ER, Ingemann-Hansen O, Thomsen JL, Ottesen GL, Gislason GH, Bundgaard H, Haunso S et al (2014a) Burden of sudden cardiac death in persons aged 1 to 49 years: nationwide study in Denmark. Circ Arrhythm Electrophysiol 7:205–211PubMed

112.

Risgaard B, Winkel BG, Jabbari R, Glinge C, Ingemann-Hansen O, Thomsen JL, Ottesen GL, Haunso S, Holst AG, Tfelt-Hansen J (2014b) Sports-related sudden cardiac death in a competitive and a noncompetitive athlete population aged 12 to 49 years: data from an unselected nationwide study in Denmark. Heart Rhythm 11:1673–1681PubMed

113.

Roberts WO, Stovitz SD (2013) Incidence of sudden cardiac death in Minnesota high school athletes 1993–2012 screened with a standardized pre-participation evaluation. J Am Coll Cardiol 62:1298–1301PubMed

114.

Schwartz PJ, Garson A Jr., Paul T, Stramba-Badiale M, Vetter VL, Wren C (2002) Guidelines for the interpretation of the neonatal electrocardiogram. A task force of the European Society of Cardiology. Eur Heart J 23:1329–1344PubMed

115.

Sharma S, Drezner JA, Baggish A, Papadakis M, Wilson MG, Prutkin JM, La Gerche A, Ackerman MJ, Borjesson M, Salerno JC et al (2018) International recommendations for electrocardiographic interpretation in athletes. Eur Heart J 39:1466–1480PubMed

116.

Tabib A, Miras A, Taniere P, Loire R (1999) Undetected cardiac lesions cause unexpected sudden cardiac death during occasional sport activity. A report of 80 cases. Eur Heart J 20:900–903PubMed

117.

Turkowski KL, Bos JM, Ackerman NC, Rohatgi RK, Ackerman MJ (2018) Return-to-play for athletes with genetic heart diseases. Circulation 137:1086–1088PubMed

118.

Van Hare GF, Ackerman MJ, Evangelista JA, Kovacs RJ, Myerburg RJ, Shafer KM, Warnes CA (2015) Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 4: congenital heart disease: a scientific statement from the American Heart Association and American College of Cardiology. Circulation 132:e281–291PubMed

119.

Yankelson L, Sadeh B, Gershovitz L, Werthein J, Heller K, Halpern P, Halkin A, Adler A, Steinvil A, Viskin S (2014) Life-threatening events during endurance sports: is heat stroke more prevalent than arrhythmic death? J Am Coll Cardiol 64:463–469PubMed

120.

Zipes DP, Link MS, Ackerman MJ, Kovacs RJ, Myerburg RJ, Estes NA 3rd (2015) Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 9: arrhythmias and conduction defects: a scientific statement from the American Heart Association and American College of Cardiology. Circulation 132:e315–325PubMed

Titel: Postmortale molekulargenetische Untersuchungen (molekulare Autopsie) bei kardiovaskulären und bei ungeklärten Todesfällen
Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK), Deutschen Gesellschaft für Humangenetik (GfH), Deutschen Gesellschaft für Pathologie (DGP), Deutschen Gesellschaft für Rechtsmedizin (DGRM)
verfasst von: Univ.-Prof. Dr. med. Eric Schulze-Bahr
Reinhard B. Dettmeyer
Karin Klingel
Silke Kauferstein
Cordula Wolf
Hideo A. Baba
Rainer M. Bohle
Roman Gebauer
Hendrik Milting
Uwe Schmidt
Benjamin Meder
Olaf Rieß
Thomas Paul
Thomas Bajanowski
Heribert Schunkert
Deutsche Gesellschaft für Kardiologie – Herz- und Kreislaufforschung e. V. (DGK)
Deutsche Gesellschaft für Pädiatrische Kardiologie und Angeborene Herzfehler e. V. (DGPK)
Deutsche Gesellschaft für Humangenetik e. V. (GfH)
Deutsche Gesellschaft für Rechtsmedizin e. V. (DGRM)
Deutsche Gesellschaft für Pathologie e. V. (DGP)
Publikationsdatum: 24.02.2021
Verlag: Springer Medizin
Schlagwörter: Kardiomyopathie
Autopsie
Plötzlicher Säuglingstod
Plötzlicher Herztod
Pathologie
Erschienen in: Die Kardiologie / Ausgabe 2/2021
Print ISSN: 2731-7129
Elektronische ISSN: 2731-7137
DOI: https://doi.org/10.1007/s12181-020-00438-5

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Springer Medizin

Postmortale molekulargenetische Untersuchungen (molekulare Autopsie) bei kardiovaskulären und bei ungeklärten Todesfällen

Konsensuspapier der Deutschen Gesellschaft für Kardiologie (DGK), Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK), Deutschen Gesellschaft für Humangenetik (GfH), Deutschen Gesellschaft für Pathologie (DGP), Deutschen Gesellschaft für Rechtsmedizin (DGRM)

Zusammenfassung

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

Update Innere Medizin

Springer Medizin

Zusammenfassung

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