Zusammenfassung
Regelmäßige körperliche Aktivität hat zahlreiche positive Auswirkungen in der Prävention und Therapie von kardiovaskulären und anderen Erkrankungen. Körperliche Aktivität kann wie ein Medikament mit Wirkung und Nebenwirkungen eingesetzt werden. Kardiale Komplikationen im Sport sind selten, treten sie aber auf, stellen sie ein dramatisches Ereignis dar. Besonders problematisch sind plötzliche Zwischenfälle und der plötzliche Tod im Kindesalter. In diesem Kapitel werden die genetisch bedingten elektrischen und strukturellen Ursachen kardialer Zwischenfälle dargestellt, insbesondere die Ionenkanalerkrankungen und verschiedenen Formen genetisch bedingter Kardiomyopathien sowie die auslösenden Trigger. Ergänzend werden das WPW-Syndrom und das Vorhofflimmern bei Sportlern erläutert; bei beiden Arrhythmien spielen genetische Faktoren teilweise ebenfalls eine Rolle. Die Diagnostik allgemein und die genetische Abklärung werden dargestellt, ebenso die Risikoabschätzung und die Konsequenzen für die sportärztliche Vorsorgeuntersuchung. Ergänzend werden die aktuellen Empfehlungen zur genetischen Untersuchung aufgeführt.
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Literatur
Hudson KL (2011) Genomics, health care, and society. N Engl J Med. 365(11): p. 1033–41
Ingles J et al. (2011) Guidelines for genetic testing of inherited cardiac disorders. Heart Lung Circ. 20(11): p. 681–7
Leyk D et al. (2008) Utilization and implementation of sports medical screening examinations: survey of more than 10 000 long-distance runners. Dtsch Arztebl Int. 105(36): p. 609–14
Lollgen H, Leyk D, Hansel J (2010) The pre-participation examination for leisure time physical activity: general medical and cardiological issues. Dtsch Arztebl Int. 107(42): p. 742–9
Maron BJ, Zipes DP (2005) Introduction: eligibility recommendations for competitive athletes with cardiovascular abnormalities-general considerations. J Am Coll Cardiol. 45(8): p. 1318–21
Maron BJ et al. (2004) Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 109(22): p. 2807–16
von Klot S et al. (2008) Intensity of physical eXErtion and triggering of myocardial infarction: a case-crossover study. Eur Heart J. 29(15): p. 1881–8
Mittleman MA, Mostofsky E (2011) Physical, psychological and chemical triggers of acute cardiovascular events: preventive strategies. Circulation. 124(3): p. 346–54
Wellens HJ (2008) Early repolarization revisited. N Engl J Med. 358(19): p. 2063–5
Ackerman MJ 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(8): p. 1077–109
Ackerman MJ, Clapham DE (1997) Ion channels – basic science and clinical disease. N Engl J Med. 336(22): p. 1575–86
Charron P et al. (2010) Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 31(22): p. 2715–26
Crotti L (2011) Genetic predisposition to sudden cardiac death. Curr Opin Cardiol. 26(1): p. 46–50
Priori SG et al. (2013) HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 10(12): p. 1932–63
Ferrari P, Bianchi G (2000) The genomics of cardiovascular disorders: therapeutic implications. Drugs. 59(5): p. 1025–42
Fuster V, Alexander R W, O'Rourke RA, Roberts R, King SB, Wellens HJJ (2001) Hurst's the Heart. 10 ed. McGraw-Hill Professional
Ganesh SK et al. (2013) Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association. Circulation. 128(25): p. 2813–51
Hershberger RE et al. (2009) Genetic evaluation of cardiomyopathy – a Heart Failure Society of America practice guideline. J Card Fail. 15(2): p. 83–97
Maron BJ, Maron MS, Semsarian C (2012) Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 60(8): p. 705–15
Morimoto S (2008) Sarcomeric proteins and inherited cardiomyopathies. Cardiovasc Res. 77(4): p. 659–66
Noseworthy PA, Newton-Cheh C (2008) Genetic determinants of sudden cardiac death. Circulation. 118(18): p. 1854–63
Richard P et al. (2003) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 107(17): p. 2227–32
Roden D (2009) Cardiovasciular genetics and genomics: Blackwell Publishing
Sidhu J, Roberts R (2003) Genetic basis and pathogenesis of familial WPW syndrome. Indian Pacing Electrophysiol J. 3(4): p. 197–201
Harmon KG et al. (2011) Incidence of sudden cardiac death in National Collegiate Athletic Association athletes. Circulation. 123(15): p. 1594–600
Priori SG, Zipes DP (2006) Sudden cardiac death. A handbook for clinical practice. Blackwell Publishing
Sauer AJ et al. (2007) Long QT syndrome in adults. J Am Coll Cardiol. 49(3): p. 329–37
Cerrone M, Priori SG (2011) Genetics of sudden death: focus on inherited channelopathies. Eur Heart J. 32(17): p. 2109–18
Pelliccia A, Zipes DP, Maron BJ (2008) Bethesda Conference #36 and the European Society of Cardiology Consensus Recommendations revisited a comparison of U.S. and European criteria for eligibility and disqualification of competitive athletes with cardiovascular abnormalities. J Am Coll Cardiol. 52(24): p. 1990–6
Sarkozy A et al. (2011) The value of a family history of sudden death in patients with diagnostic type I Brugada ECG pattern. Eur Heart J. 32(17): p. 2153–60
Beckmann BM, Pfeufer A, Kaab S (2011) Inherited cardiac arrhythmias: diagnosis, treatment, and prevention. Dtsch Arztebl Int. 108(37): p. 623–33; quiz 634
Kauferstein S et al. (2009) Cardiac gene defects can cause sudden cardiac death in young people. Dtsch Arztebl Int. 106(4): p. 41–7
Taylor M et al. (2011) Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 124(8): p. 876–85
Lu JT, Kass RS (2010) Recent progress in congenital long QT syndrome. Curr Opin Cardiol. 25(3): p. 216–21
Haferkamp W, Haferkamp F, Breithardt G (2002) Medikamentenbedingte QT-Verlängerung und Torsade de pointes. Deutsches Ärzteblatt. 99(28-29): p. A1972–A1979
Löllgen H et al. (1986) Ventricular arrhythmias and Q-Tc interval during stress-ECG. Herz. 11(5): p. 303–8
Antzelevitch C, Yan GX (2010) J wave syndromes. Heart Rhythm. 7(4): p. 549–58
Tester DJ, Ackerman MJ (2006) The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol. 21(3): p. 166–72
Tikkanen JT et al. (2009) Long-term outcome associated with early repolarization on electrocardiography. N Engl J Med. 361(26): p. 2529–37
Santinelli V et al. (2009) The natural history of asymptomatic ventricular pre-excitation a long-term prospective follow-up study of 184 asymptomatic children. J Am Coll Cardiol. 53(3): p. 275–80
La Gerche A et al. (2012) EXErcise-induced right ventricular dysfunction and structural remodelling in endurance athletes. Eur Heart J. 33(8): p. 998–1006
Leenhardt A et al. (1995) Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 91 (5): p. 1512–9
Sen-Chowdhry S et al. (2008) Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. J Am Coll Cardiol. 52(25): p. 2175–87
Jouven X et al. (2000) Long-term outcome in asymptomatic men with eXErcise-induced premature ventricular depolarizations. N Engl J Med. 343(12): p. 826–33
Beckerman J et al. (2005) EXErcise test-induced arrhythmias. Prog Cardiovasc Dis. 47(4): p. 285–305
Doevendans PA, Wellens HJ (2001) Wolff-Parkinson-white syndrome: a genetic disease? Circulation. 104(25): p. 3014–6
Stephenson, E.A. and C.I. Berul, Electrophysiological interventions for inherited arrhythmia syndromes. Circulation, 2007. 116(9): p. 1062–80
Willich SN et al. (1993) Physical eXErtion as a trigger of acute myocardial infarction. Triggers and Mechanisms of Myocardial Infarction Study Group. N Engl J Med. 329(23): p. 1684–90
Aizer A et al. (2009) Relation of vigorous eXErcise to risk of atrial fibrillation. Am J Cardiol. 103(11): p. 1572–7
Chen PS, Tan AY (2007) Autonomic nerve activity and atrial fibrillation. Heart Rhythm. 4(3 Suppl): p. S61–4
Di Paolo FM et al. (2012) The athlete's heart in adolescent Africans: an electrocardiographic and echocardiographic study. J Am Coll Cardiol. 59(11): p. 1029–36
Elliott P, McKenna WJ (2004) Hypertrophic cardiomyopathy. Lancet. 363(9424): p. 1881–91
Ho CY (2012) Hypertrophic cardiomyopathy in 2012. Circulation. 125(11): p. 1432–8
Maron BJ et al. (2009) Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation. 119(8): p. 1085–92
Van Driest SL et al. (2005) Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc. 80(6): p. 739–44
Hershberger RE et al. (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): p. 155–61
Ho CY (2012) Genetic considerations in hypertrophic cardiomyopathy. Prog Cardiovasc Dis. 54(6): p. 456–60
Marcus FI et al. (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 31(7): p. 806–14
Basso C et al. (2009) Arrhythmogenic right ventricular cardiomyopathy. Lancet. 373(9671): p. 1289–300
Azaouagh A et al. (2011) Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update. Clin Res Cardiol. 100(5): p. 383–94
Asimaki A et al. (2009) A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med. 360(11): p. 1075–84
Tan HL et al. (2005) Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 112(2): p. 207–13
Bomma C et al. (2004) Misdiagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Cardiovasc Electrophysiol. 15(3): p. 300–6
Gerull B et al. (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 36(11): p. 1162–4
Engberding R et al. (2010) Isolated non-compaction cardiomyopathy. Dtsch Arztebl Int. 107(12): p. 206–13
Probst S et al. (2011) Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet. 4(4): p. 367–74
Hoedemaekers YM et al. (2007) Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J. 28(22): p. 2732–7
Bates MG et al. (2012) Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J. 33(24): p. 3023–33
Erdman J, Linsel-Nitschke P, Schunkert H (2010) Genetische Ursachen des Herzinfarktes. Neue Aspekte durch genomweite Assoziationsstudien. Deutsches Ärzteblatt. 107(40): p. 694–9
Helgadottir A et al. (2012) Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism. J Am Coll Cardiol. 60(8): p. 722–9
Löllgen H (2005) Kardiopulmonale Funktionsdiagnostik. 4 ed. Novartis
Gielen S, Schuler G, Adams V (2010) Cardiovascular effects of eXErcise training: molecular mechanisms. Circulation. 122(12): p. 1221–38
Starnes JW, Taylor RP, Ciccolo JT (2005) Habitual low-intensity eXErcise does not protect against myocardial dysfunction after ischemia in rats. Eur J Cardiovasc Prev Rehabil. 12(2): p. 169–74
Hambrecht R et al. (2003) Regular physical activity improves endothelial function in patients with coronary artery disease by increasing phosphorylation of endothelial nitric oxide synthase. Circulation. 107(25): p. 3152–8
Libby P, Ridker PM, Hansson GK (2009) Inflammation in atherosclerosis: from pathophysiology to practice. J Am Coll Cardiol. 54(23): p. 2129–38
Drexler H et al. (1992) Alterations of skeletal muscle in chronic heart failure. Circulation. 85(5): p. 1751–9
Löllgen H, Löllgen D (2012) Risikoreduktion kardiovaskulärer Erkrankungen durch körperliche Aktivität Der Internist. 53 (1): p. 20–29
Rossi A et al. (2012) The impact of physical activity on mortality in patients with high blood pressure: a systematic review. J Hypertens. 30(7): p. 1277–88
Chaitman BR (2007) EXErcise stress testing, in Braunwald's Heart Disease, R.O. Bonow, Mann, D.L. Zipes, D.P., Libby, P., Editor, Saunders: Philadelphia. p. 195–226
Lemery R et al. (1989) Nonischemic ventricular tachycardia. Clinical course and long-term follow-up in patients without clinically overt heart disease. Circulation. 79(5): p. 990–9
Zhang Y, Mazgalev TN (2011) Arrhythmias and vagus nerve stimulation. Heart Fail Rev. 16(2): p. 147–61
Ott P, Marcus FI (2006) Electrocardiographic markers of sudden death. Cardiol Clin. 24(3)p.453–69, x
Smith W (2011) Guidelines for the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy. Heart Lung Circ. 20(12): p. 757–60
Heidbuchel H et al. (2006) Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part II: ventricular arrhythmias, channelopathies and implantable defibrillators. Eur J Cardiovasc Prev Rehabil. 13(5): p. 676–86
Vohra J (2011) Diagnosis and management of Brugada Syndrome. Heart Lung Circ. 20(12): p. 751–6
Berbalk A, Boldt F, Hansel J, Horstmann T, Huonker M, Löllgen H, Mooren F-C, Nührenbörger C, Schmitt H, Urhausen A (2007) Leitlinie. Vorsorgeuntersuchung im Sport. Available from: http://www.dgsp.de/_downloads/allgemein/leitlinie_vorsorgeuntersuchung_4.10.2007-1-19.pdf (Zuletzt abgerufen: 24.03.2014)
Froelicher VF, Myers J (2006) EXErcise and the Heart. 5 ed. Saunders
Löllgen H (2015) Das EKG beim Sportler. Herzschr Elektrophys. 26: 274–290
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Löllgen, H., Schulze-Bahr, E., Löllgen, R., Bachl, N. (2018). Körperliche Aktivität, Sport, Genetik und kardiovaskuläre Erkrankungen. In: Bachl, N., Löllgen, H., Tschan, H., Wackerhage, H., Wessner, B. (eds) Molekulare Sport- und Leistungsphysiologie. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1591-6_16
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