p.89 抽出テキスト
September 25, 2018 Circulation. 2018;138:e272–e391. DOI: 10.1161/CIR.0000000000000549 e360 CLINICAL STATEMENTS AND GUIDELINES infant death syndrome (SIDS) are present with high frequency in new exome data. Can J Cardiol. 2013;29:1104–9. S4.2.6-2. Jabbari J, Jabbari R, Nielsen MW, et al. New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovas Genetics. 2013 481–9. S4.2.6-3. Paludan-Muller C, Ahlberg G, Ghouse J, et al. Integration of 60 000 exomes and ACMG guidelines question the role of catecholaminergic polymorphic ventricular tachycardia-associated variants. Clin Genet. 2017;91:63–72. S4.2.6-4. Refsgaard L, Holst AG, Sadjadieh G, et al. High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012;20:905–8. S4.2.6-5. Risgaard B, Jabbari R, Refsgaard L, et al. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013;84:489–95. S4.2.6-6. Costa J, Lopes CM. Barsheshet A, et al. Combined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndrome. Heart Rhythm. 2012;9:892–8. S4.2.6-7. Hershberger RE, Lindenfeld J, Mestroni L, et al. Genetic evaluation of cardiomyopathy–a Heart Failure Society of America practice guideline. J Cardiac Fail. 2009;15:83–97. S4.2.6-8. Kim JA, Lopes CM, Moss AJ, et al. Trigger-specific risk factors and response to therapy in long QT syndrome type 2. Heart Rhythm. 2010;7:1797–805. S4.2.6-9. Migdalovich D, Moss AJ, Lopes CM, et al. Mutation and genderspecific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome. Heart Rhythm. 2011;8:1537–43. S4.2.6-10. Crotti L, Marcou CA, Tester DJ, et al. Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol. 2012;60:1410–8. S4.2.6-11. Probst V, Wilde AA, Barc J, et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovas Genetics. 2009;2:552–7. S4.2.6-12. Dintzis RZ. Genetic variation and the meiotic process. Res Publ Assoc Res Nerv Ment Dis. 1991;69:39–46. S4.2.6-13. Groeneweg JA, Bhonsale A, James CA, et al. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet. 2015;8:437–46. S4.2.6-14. Marcus FI, Edson S, Towbin JA. Genetics of arrhythmogenic right ventricular cardiomyopathy: a practical guide for physicians. J Am Coll Cardiol. 2013;61:1945–8. S4.2.6-15. Quarta G, Muir A, Pantazis A, et al. Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria. Circulation. 2011;123:2701–9. S4.2.6-16. Rigato I, Bauce B, Rampazzo A, et al. Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. Circ Cardiovasc Genet. 2013;6:533–42. S4.2.6-17. 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). Europace. 2011;13:1077–109. S4.2.6-18. Gollob MH, Blier L, Brugada R, et al. 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. 2011;27:232–45. S4.2.6-19. Kumar S, Peters S, Thompson T, et al. Familial cardiological and targeted genetic evaluation: low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes. Heart Rhythm. 2013;10:1653–60. S4.2.6-20. Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Heart Rhythm. 2013;10:1932–63. S4.2.6-21. Tester DJ, Medeiros-Domingo A, Will ML, et al. Unexplained drownings and the cardiac channelopathies: a molecular autopsy series. Mayo Clin Proc. 2011;86:941–7. S4.2.6-22. Tzimas I, Zingraf JC, Bajanowski T, et al. The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths. Int J Legal Med. 2016;130:1575–9. S4.2.6-23. Wang D, Shah KR, Um SY, et al. Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014;237:90–9. S4.2.6-24. Laedtke AL, O’Neill SM, Rubinstein WS, et al. Family physicians’ awareness and knowledge of the Genetic Information Non- Discrimination Act (GINA). J Genet Couns. 2012;21:345–52. S4.2.6-25. Vavolizza RD, Kalia I, Erskine AK, et al. Disclosing genetic information to family members about inherited cardiac arrhythmias: an obligation or a choice? J Genet Couns. 2015;24:608–15. S4.2.6-26. Christiaans I, van Langen IM, Birnie E, et al. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients’ perspective. Am J Med Genet. Part A. 2009;149a: 1444 –51. S4.2.6-27. Hamang A, Eide GE, Rokne B, et al. Predictors of heart-focused anxiety in patients undergoing genetic investigation and counseling of long QT syndrome or hypertrophic cardiomyopathy: a one year follow-up. J Genet Counsel. 2012;21:72–84. 4.3 Invasive Testing 4.3.1 Invasive Cardiac Imaging: Cardiac Catheterization or CT Angiography S4.3.1-1. Dumas F, Bougouin W, Geri G, et al. Emergency PCI in post-cardiac arrest patients without ST-segment elevation pattern: insights from the PROCAT II registry. JACC Cardiovasc Interv. 2016;9:1011–8. S4.3.1-2. Cronier P, Vignon P, Bouferrache K, et al. Impact of routine percutaneous coronary intervention after out-of-hospital cardiac arrest due to ventricular fibrillation. Crit Care. 2011;15:R122. S4.3.1-3. Spaulding CM, Joly LM, Rosenberg A, et al. Immediate coronary angiography in survivors of out-of-hospital cardiac arrest. N Engl J Med. 1997;336:1629–33. S4.3.1-4. Zanuttini D, Armellini I, Nucifora G, et al. Impact of emergency coronary angiography on in-hospital outcome of unconscious survivors after out-of-hospital cardiac arrest. Am J Cardiol. 2012;110:1723–8. S4.3.1-5. O’Gara PT, Kushner FG, Ascheim DD, et al. 2013 ACCF/AHA guide- line for the management of ST-elevation myocardial infarction: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2013;127:e362–425. 4.3.2 Electrophysiological Study for VA S4.3.2-1. Buxton AE, Lee KL, DiCarlo L, et al. Electrophysiologic testing to identify patients with coronary artery disease who are at risk for sudden death. Multicenter Unsustained Tachycardia Trial Investigators. N Engl J Med. 2000;342:1937–45. S4.3.2-2. Buxton AE, Lee KL, Hafley GE, et al. Relation of ejection fraction and inducible ventricular tachycardia to mode of death in patients with coronary artery disease: an analysis of patients enrolled in the multicenter unsustained tachycardia trial. Circulation. 2002;106:2466–72. S4.3.2-3. Costantini O, Hohnloser SH, Kirk MM, et al. The ABCD (Alternans Before Cardioverter Defibrillator) Trial: strategies using T-wave alternans to improve efficiency of sudden cardiac death prevention. J Am Coll Cardiol. 2009;53:471–9. S4.3.2-4. Bourke JP, Richards DA, Ross DL, et al. Routine programmed electrical stimulation in survivors of acute myocardial infarction for prediction of spontaneous ventricular tachyarrhythmias during follow-up: results, optimal stimulation protocol and cost-effective screening. J Am Coll Cardiol. 1991;18:780–8. S4.3.2-5. Bailey JJ, Berson AS, Handelsman H, et al. Utility of current risk stratification tests for predicting major arrhythmic events after myocardial infarction. J Am Coll Cardiol. 2001;38:1902–11. S4.3.2-6. Schmitt C, Barthel P, Ndrepepa G, et al. Value of programmed ventricular stimulation for prophylactic internal cardioverter-defibrillator implantation in postinfarction patients preselected by noninvasive risk stratifiers. J Am Coll Cardiol. 2001;37:1901–7. S4.3.2-7. Hilfiker G, Schoenenberger AW, Erne P, et al. Utility of electrophysiological studies to predict arrhythmic events. World J Cardiol. 2015;7:344–50. S4.3.2-8. Bardy GH, Lee KL, Mark DB, et al. Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure. N Engl J Med. 2005;352:225–37. S4.3.2-9. Buxton AE, Lee KL, Fisher JD, et al. A randomized study of the pre- vention of sudden death in patients with coronary artery disease. Downloaded from http://ahajournals.org by on October 7, 2026