Zusammenfassung
Ein plötzlicher Herztod eines jungen Menschen (< 45 Jahre) ist ein insgesamt seltenes Ereignis. Es ist aber besonders tragisch, da es häufig einen scheinbar gesunden Menschen trifft und das erste Symptom einer bisher nicht bekannten Herzerkrankung sein kann. Gleichzeitig kann der Todesfall eine familiäre Erkrankung demaskieren. Die Wahrscheinlichkeit, dass eine kongenitale strukturelle Erkrankung oder eine Ionenkanalerkrankung des Herzens vorliegt, ist bei jüngeren Patienten deutlich erhöht. Jeder plötzliche Herztod muss daher einen umfassenden Versuch der Ursachenklärung in Gang setzen, der bereits mit einer Autopsie inklusive einer molekularen Autopsie beginnen sollte. Die Veranlassung einer familiären Abklärung gilt auch für jeden Arzt, der im Rahmen einer Familienanamnese sehr viel später mit einem Fall eines plötzlichen Herztodes eines jungen Patienten konfrontiert wird. Nur so kann es gelingen, betroffene Familienmitglieder zu identifizieren, kardiologisch zu überwachen und weitere Todesfälle durch eine prophylaktische Therapie zu verhindern [33].
Abstract
Sudden cardiac death (SCD) in young patients (< 45 years of age) is a rare event. However, it is particularly tragic as it affects active and often otherwise healthy individuals. Furthermore, SCD may unmask an underlying congenital structural disease or channelopathy. The leading cause of SCD is coronary artery disease; however, the likelihood of an underlying congenital cardiac disease is higher in young individuals. Each SCD should therefore initiate a thorough work-up of an underlying cardiac cause, which should ideally include a molecular autopsy. Familial screening should also be initiated if a physician is years later confronted with a history of SCD in a young patient. The common aim is to prompt identification of affected family members, to include the patient in regular cardiological follow-up and if indicated to initiate prophylactic therapy to prevent further SCD. This current issue on hereditary cardio(myo)pathy will cover the main topics on familial diseases. In addition the role of molecular autopsy and molecular genetic screening is discussed.
Literatur
Ackerman MJ, Priori SG, Willems S et al (2011) 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 13:1077–1109
Arnestad M, Crotti L, Rognum TO et al (2007) Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 115:361–367
Behr ER, Dalageorgou C, Christiansen M et al (2008) Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 29:1670–1680
Belhassen B, Shapira I, Shoshani D et al (1987) Idiopathic ventricular fibrillation: inducibility and beneficial effects of class I antiarrhythmic agents. Circulation 75:809–816
Belhassen B, Glick A, Viskin S (2004) Efficacy of quinidine in high-risk patients with Brugada syndrome. Circulation 110:1731–1737
Bowker TJ, Wood DA, Davies MJ et al (2003) Sudden, unexpected cardiac or unexplained death in England: a national survey. Qjm 96:269–279
Brinkmann B, Du Chesne A, Vennemann B (2002) Recent data for frequency of autopsy in Germany. Dtsch Med Wochenschr 127:791–795
Brion M, Allegue C, Santori M et al (2012) Sarcomeric gene mutations in sudden infant death syndrome (SIDS). Forensic Sci Int 219:278–281
Doolan A, Langlois N, Chiu C et al (2008) Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians. Int J Cardiol 127:138–141
Ehlermann P, Lehrke S, Papavassiliu T et al (2011) Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease. Clin Res Cardiol 100:547–551
Gaita F, Giustetto C, Bianchi F et al (2003) Short QT Syndrome: a familial cause of sudden death. Circulation 108:965–970
Giudicessi JR, Ye D, Kritzberger CJ et al (2012) Novel mutations in the KCND3-encoded Kv43K+ channel associated with autopsy-negative sudden unexplained death. Hum Mutat 33:989–997
Giustetto C, Schimpf R, Mazzanti A et al (2011) Long-term follow-up of patients with short QT syndrome. JAAC 58:587–595
Goldenberg I, Horr S, Moss AJ et al (2011) Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol 57:51–59
Gorgels AP, Gijsbers C, De Vreede-Swagemakers J et al (2003) Out-of-hospital cardiac arrest-the relevance of heart failure. The maastricht circulatory arrest registry. Eur Heart J 24:1204–1209
Gussak I, Brugada P, Brugada J et al (2000) Idiopathic short QT interval: a new clinical syndrome? Cardiology 94:99–102
Haissaguerre M, Derval N, Sacher F et al (2008) Sudden cardiac arrest associated with early repolarization. N Engl J Med 358:2016–2023
Hu D, Barajas-Martinez H, Medeiros-Domingo A et al (2012) A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents. Heart Rhythm 9:760–769
Jastrzebski M, Kukla P (2009) Ischemic J wave: novel risk marker for ventricular fibrillation? Heart Rhythm 6:829–835
Junttila MJ, Sager SJ, Tikkanen JT et al (2012) Clinical significance of variants of J-points and J-waves: early repolarization patterns and risk. Eur Heart J [Epub ahead of print]
Kauferstein S, Kiehne N, Neumann T et al (2009) Cardiac gene defects can cause sudden cardiac death in young people. Dtsch Arztebl Int 106:41–47
Loewel H, Engel S, Hörmann A et al (1999) Acute myocardial infarction and sudden cardiac death from an epidemiological point of view. Intensivmed 36:652–661
Napolitano C, Priori SG, Schwartz PJ et al (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 294:2975–2980
Patel RB, Ng J, Reddy V et al (2010) Early repolarization associated with ventricular arrhythmias in patients with chronic coronary artery disease. Circ Arrhythm Electrophysiol 3:489–495
Podrid PJ, Myerburg RJ (2005) Epidemiology and stratification of risk for sudden cardiac death. Clin Cardiol 28:I3–11
Priori SG, Aliot E, Blomstrom-Lundqvist C et al (2001) Task force on sudden cardiac death of the European Society of Cardiology. Eur Heart J 22:1374–1450
Priori SG, Aliot E, Blomstrom-Lundqvist C et al (2003) Update of the guidelines on sudden cardiac death of the European Society of Cardiology. Eur Heart J 24:13–15
Statistisches Bundesamt (Destatis) (2012) Todesursachenstatistik. Statistisches Bundesamt, Wiesbaden
Richter-Kuhlmann E (2010) Neues Gesetz, Neue Pfichten. Dtsch Ärztebl 107:A122–A123
Rosso R, Glikson E, Belhassen B et al (2012) Distinguishing „benign“ from „malignant early repolarization“: the value of the ST-segment morphology. Heart Rhythm 9:225–229
Rudic B, Veltmann C, Kuntz E et al (2012) Early repolarization pattern is associated with ventricular fibrillation in patients with acute myocardial infarction. Heart Rhythm 9:1292–3000
Schimpf R, Wolpert C, Bianchi F et al (2003) Congenital short QT syndrome and implantable cardioverter defibrillator treatment: inherent risk for inappropriate shock delivery. J Cardiovasc Electrophysiol 14:1273–1277
Schimpf R, Bauersfeld U, Gaita F et al (2005) Short QT syndrome: successful prevention of sudden cardiac death in an adolescent by implantable cardioverter-defibrillator treatment for primary prophylaxis. Heart Rhythm 2:416–417
Skinner JR, Crawford J, Smith W et al (2011) Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1–40 year olds. Heart Rhythm 8:412–419
Tan Hl, Hofman N, Van Langen IM et al (2005) Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation 112:207–213
Tikkanen JT, Junttila MJ, Anttonen O et al (2011) Early repolarization: electrocardiographic phenotypes associated with favorable long-term outcome. Circulation 123:2666–2673
Van Berlo JH, De Voogt WG, Van Der Kooi AJ et al (2005) Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med 83:79–83
Van Norstrand DW, Asimaki A, Rubinos C et al (2012) Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death. Circulation 125:474–481
Veltmann C, Borggrefe M, Schimpf R et al (2007) Fatal inappropriate ICD shock. J Cardiovasc Electrophysiol 18:326–328
Veltmann C, Kuschyk J, Schimpf R et al (2010) Prevention of inappropriate ICD shocks in patients with Brugada syndrome. Clin Res Cardiol 99:37–44
Watanabe H, Chopra N, Laver D et al (2009) Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med 15:380–383
Watkins H, McKenna WJ, Thierfelder L et al (1995) Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 332:1058–1064
Wilms HR, Midgley DJ, Morrow P et al (2012) Evaluation of autopsy and police reports in the investigation of sudden unexplained death in the young. Forensic Sci Med Pathol [Epub ahead of print]
Winkel BG, Holst AG, Theilade J et al (2011) Nationwide study of sudden cardiac death in persons aged 1–35 years. Eur Heart J 32:983–990
Wisten A, Forsberg H, Krantz P et al (2002) Sudden cardiac death in 15–35-year olds in Sweden during 1992–99. J Intern Med 252:529–536
Wisten A, Bostrom IM, Morner S et al (2012) Mutation analysis of cases of sudden unexplained death, 15 years after death: Prompt genetic evaluation after resuscitation can save future lives. Resuscitation [Epub ahead of print]
Wolpert C, Schimpf R, Giustetto C et al (2005) Further insights into the effect of quinidine in short QT syndrome caused by a mutation in HERG. J Cardiovasc Electrophysiol 16:54–58
Zipes DP, Camm AJ, Borggrefe M et al (2006) ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for practice guidelines (Writing Committee to Develop guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death) developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Europace 8:746–837
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Schimpf, R., Yen, K. & Borggrefe, M. Plötzlicher Herztod junger Patienten. Herzschr Elektrophys 23, 149–160 (2012). https://doi.org/10.1007/s00399-012-0228-4
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DOI: https://doi.org/10.1007/s00399-012-0228-4