Familiäre Arrhythmieerkrankungen mit strukturell normalen Herzen

Zusammenfassung

Angeborene kardiale Ionenkanalerkrankungen/familiäre Arrhythmieerkrankungen sind häufige Ursachen für arrhythmogene Synkopen und den plötzlichen Herztod bei jungen Erwachsenen. Sie sind mittlerweile bei rechtzeitiger Diagnose und adäquater antiarrhythmischer Therapie gut beherrschbar. Der (verbesserten) Risikostratifizierung kommt in der Behandlung eine entscheidende Rolle zu. Da sich das arrhythmogene Risiko mit der Zeit ändern kann, sind regelmäßige Verlaufskontrollen indiziert. Die genetischen und pathophysiologischen Grundlagen werden zunehmend besser verstanden und so gezieltere (mechanismusbasierte) Therapien möglich.

Abstract

Inherited cardiac channelopathies are frequent causes of arrhythmogenic syncope and sudden cardiac death in young adults. When timely diagnosed and treated properly, they can be well controlled with anti-arrhythmic therapy and ICDs. Adequate risk stratification is crucial in the management of these diseases. As the individual arrhythmogenic risk can change over time, regular follow-ups are indicated. An increasing understanding of the genetic and pathophysiologic mechanisms of these diseases leads to the development of more targeted (mechanism-based) therapies.

Schlüsselwörter

Synkope - Risikostratifizierung - plötzlicher Herztod - katecholaminerge polymorphe VT - QT-Syndrom - Brugada-Syndrom

Key words

syncope - risk stratification - Brugada syndrome - catecholaminergic polymorphic VT - sudden cardiac death - QT syndrome

• Literatur

• 1 Schwartz PJ, Stramba-Badiale M, Crotti L. et al. Prevalence of the congenital long-qt syndrome. Circulation 2009; 120: 1761-1767 doi:10.1161/CIRCULATIONAHA.109.863209
• 2 El-Sherif N, Turitto G, Boutjdir M. Congenital Long QT syndrome and torsade de pointes. Ann Noninvasive Electrocardiol 2017; 22: 1-11 doi:10.1111/anec.12481
• 3 Schwartz PJ, Moss AJ, Vincent GM. et al. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993; 88: 782-784 doi:10.1161/01.CIR.88.2.782
• 4 Brado J, Dechant MJ, Menza M. et al. Phase-contrast magnet resonance imaging reveals regional, transmural, and base-to-apex dispersion of mechanical dysfunction in patients with long QT syndrome. Heart Rhythm 2017; 14: 1388-1397 doi:10.1016/j.hrthm.2017.04.045
• 5 Haugaa KH, Amlie JP, Berge KE. et al. Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction. Circulation 2010; 122: 1355-1363 doi:10.1161/CIRCULATIONAHA.110.960377
• 6 Rizas K, Beckmann BM, Kerschl J. et al. Periodic Repolarization Dynamics as risk predictor in patients with Long-QT Syndrome. Eur Heart J 2017; 38 (Suppl. 01) ehx504.3871 doi:10.1093/eurheartj/ehx504.3871
• 7 Priori SG, Wilde AA, Horie M. et al. HRS/EHRA/APHRS Expert Consensus Statement on the diagnosis and management of patients with inherited arrhythymia syndromes. Heart Rhythm 2013; 10: 1932-1963 doi:10.1016/j.joa.2013.08.001
• 8 Priori SG, Blomström-Lundqvist C, Mazzanti A. et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2015; 36: 2793-2867 doi:10.1093/eurheartj/ehv316
• 9 Chockalingam P, Crotti L, Girardengo G. et al. Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: Higher recurrence of events under metoprolol. J Am Coll Cardiol 2012; 60: 2092-2099 doi:10.1016/j.jacc.2012.07.046
• 10 Ackerman MJ, Priori SG, Dubin AM. et al. Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent?. Heart Rhythm 2017; 14: e41 doi:10.1016/j.hrthm.2016.09.012
• 11 Sieira J, Dendramis G, Brugada P. Pathogenesis and management of Brugada syndrome. Nat Rev Cardiol 2016; 13: 744-756 doi:10.1038/nrcardio.2016.143
• 12 Rudic B, Schimpf R, Borggrefe M. Short QT Syndrome – Review of Diagnosis and Treatment. Arrhythmia Electrophysiol Rev 2014; 3: 76 doi:10.15420/aer.2014.3.2.76
• 13 Lieve KV, van der Werf C, Wilde AA. Catecholaminergic polymorphic ventricular tachycardia. Circ J 2016; 80: 1285-1291 doi:10.1253/circj.CJ-16-0326
• 14 Hager A, Bjarnason-Wehrens B, Oberhoffer R, Hövels-Gürich H, Lawrenz W, Dubowy K-O, Paul T. Leitlinie Pädiatrische Kardiologie: Sport bei angeborenen Herzerkrankungen (2015). Im Internet: http://www.kinderkardiologie.org/fileadmin/user_upload/Leitlinien/LL%20Sport_20150504.pdf Stand: 28.02.2018
• 15 Ackerman MJ, Zipes DP, Kovacs RJ. et al. 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 2015; 66: 2424-2428 doi:10.1016/j.jacc.2015.09.042