Kardiologie up2date, Inhaltsverzeichnis Kardiologie up2date 2017; 13(01): 23-44DOI: 10.1055/s-0042-122794 Herzrhythmusstörungen © Georg Thieme Verlag KG Stuttgart · New YorkGenetische Arrhythmiesyndrome – Teil 2 Authors Britt-Maria Beckmann Adrian Curta Stefan Kääb Artikel empfehlen Abstract Artikel einzeln kaufen(opens in new window) Alle Artikel dieser Rubrik(opens in new window) Hereditäre Arrhythmiesyndrome mit struktureller Herzerkrankung sind selten. Oft sind relativ junge, ansonsten gesunde Patienten ohne kardiovaskuläre Risikofaktoren betroffen. Deshalb können die Erkrankungen im Anfangsstadium übersehen werden. Im Folgenden werden die Diagnostik, die genetische Untersuchung und die Therapie bei den häufigsten hereditären Arrhythmiesyndromen mit struktureller Herzerkrankung dargestellt. Volltext Referenzen Literatur 1 Taylor MR, Carniel E, Mestroni L. Cardiomyopathy, familial dilated. Orphanet J Rare Dis 2006; 1: 27 2 Mestroni L. et al. Guidelines for the study of familial dilated cardiomyopathies. European Heart Journal 1999; 20: 93-102 3 Leong DP. et al. Effects of myocardial fibrosis and ventricular dyssynchrony on response to therapy in new-presentation idiopathic dilated cardiomyopathy: insights from cardiovascular magnetic resonance and echocardiography. European Heart Journal 2012; 33: 640-648 4 Petretta M, Pirozzi F, Sasso L. et al. Review and Metaanalysis of the Frequency of Familial Dilated Cardiomyopathy. American Journal of Cardiology 2011; 108: 1171-1176 5 Charron P. et al. 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 2010; 31: 2715-2726 6 Fatkin D, Otway R, Richmond Z. Genetics of Dilated Cardiomyopathy. Heart Failure Clinics 2010; 6: 129-140 7 Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 2011; 57: 1641-1649 8 Posafalvi A, Herkert JC, Sinke RJ. et al. Clinical utility gene card for: dilated cardiomyopathy (CMD). Eur J Hum Genet 2013; 21 9 Schulze-Bahr E. et al. Gendiagnostik bei kardiovaskulären Erkrankungen. Der Kardiologe 2015; 9: 213-243 10 Beckmann BM, Holinski-Feder E, Walter MC. et al. Laminopathy presenting as familial atrial fibrillation. Int J Cardiol 2010; 145: 394-396 11 Ackerman MJ, Priori SG, Willems S. et al. 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 2011; 8: 1308-1339 12 Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart Journal 2014; 35: 2733-2779 13 Maron BJ. Hypertrophic cardiomyopathy: A systematic review. JAMA 2002; 287: 1308-1320 14 Elliott PM. et al. Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy. Heart 2006; 92: 785-791 15 Gersh BJ. et al. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic CardiomyopathyA Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons Journal of the American College of Cardiolojgy 2011; 58: e212-e260 16 O’Mahony C. et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD). European Heart Journal 2014; 35: 2010-2020 17 European Society of Cardiology. HSM Risk-SCD Calculator. Im Internet: http://doc2do.com/hcm/webHCM.html ; Stand: 04.03.2017 18 Maron BJ. et al. Independent Assessment of the European Society of Cardiology Sudden Death Risk Model for Hypertrophic Cardiomyopathy. American Journal of Cardiology 2015; 116: 757-764 19 Vriesendorp PA. et al. Validation of the 2014 European Society of Cardiology guidelines risk prediction model for the primary prevention of sudden cardiac death in hypertrophic cardiomyopathy. Circ Arrhythm Electrophysiol 2015; 8: 829-835 20 Attanasio P. et al. Risikostratifizierung bei familiärer hypertropher Kardiomyopathie anhand der neuen ESC-Leitlinien. Dtsch med Wochenschr 2016; 141: 1035-1039 21 Priori SG, Blomström-Lundqvist C, Mazzanti A. et al. ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2015; 36: 2793-2867 22 Pilichou K. et al. Arrhythmogenetic cardiomyopathy. Orphanet J Rare Dis 2016; 33 23 Towbin JA. Arrhythmogenic Right Ventricular Cardiomyopathy: A Paradigm of Overlapping Disorders. Annals of Noninvasive Electrocardiolgoy 2008; 13: 325-326 24 Ruwald AC. et al. Association of competitive and recreational sport participationwith cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy:resultsfromtheNorthAmerican multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2015; 36: 1735-1743 25 Marcus FI. et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010; 31: 806-814 26 Hodgkinson KA. et al. Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy. Circ Arrhythm Electrophysiol 2016; 9: 1941-3149 27 Kapplinger JD. et al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol 2011; 57: 2317-2327 28 James CA. et al. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. J Am Coll Cardiol 2013; 62: 1290-1297 29 Heidbüchel H. High prevalence of right ventricular involvementin endurance athletes with ventricular arrhythmias Role of an electrophysiologic study in risk stratification. Eur Heart J 2003; 24: 1473-1480 30 Schinkel AFL. Implantable Cardioverter Defibrillators in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patient Outcomes, Incidence of Appropriate and Inappropriate Interventions, and Complications. Circ Arrhythm Electrophysiol 2013; 6: 562-568 31 Gerecke B, Engberding R. Isolated noncompaction cardiomyopathy with special emphasis on arrhythmia complications. Herzschrittmachertherapie + Elektrophysiologie 2012; 23: 201-210 32 Fiala M. et al. Septal Ventricular Tachycardia with Alternating LBBB–RBBB Morphology in Isolated Ventricular Noncompaction. Journal of Cardiovascular Electrophysiology 2010; 21: 704-707 33 Paparella G. et al. Electro-anatomical mapping in a patient with isolated left ventricular non-compaction and left ventricular tachycardia. Europace 2009; 11: 1227-1229 34 Webber SA. et al. Outcomes of Restrictive Cardiomyopathy in Childhood and the Influence of Phenotype. A Report From the Pediatric Cardiomyopathy Registry 2012; 126: 1237-1244 35 Jacquier A. et al. Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 2010; 31: 1098-1104 36 Bundesministerium der Justiz und für Verbraucherschutz. Gesetz über genetische Untersuchungen beim Menschen (GenDG). Im Internet: http://www.gesetze-im-internet.de/gendg/ ; Stand: 04.03.2017 37 Robert-Koch-Institut. Richtlinien der Gendiagnostikkommission (GEKO). Im Internet: http://www.rki.de/DE/Content/Kommissionen/GendiagnostikKommission/Richtlinien/Richtlinien_inhalt.html ; Stand: 04.03.2017