4. Arrhythmogenic diseases and syndromes (epidemiology, genetics, pathophysiology, clinical features and diagnosis, prognosis and risk evaluation, treatment, prevention)

Ischemic cardiomyopathy

• Briceno N, Schuster A, Lumley M, Perera D. Ischaemic cardiomyopathy: pathophysiology, assessment and the role of revascularisation. Heart 2016;102:397–406.
  # Review on pathophysiology of ICM. Myerburg RJ, Juntilla MJ. Sudden cardiac death caused by coronary artery disease. Circulation 2012;125(8):1043-52
  # Review on SCD in CAD.

• McKenna WJ, Maron BJ, Thiene G. Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circ Res. 2017 Sep 15;121(7):722-730.
  # Review on classification and epidemiology of cardiomyopathies.

• Cahill TJ, Ashrafian H, Watkins H. Genetic cardiomyopathies causing heart Failure. Circ Res 2013;113:660–75
  # Review on genetic cardiomyopathies.

• Bui AL, Horwich TB, Fonarow GC. Epidemiology and risk profile of heart failure. Nat Rev Cardiol 2011;8(1):30-41
  # Comprehensive review on epidemiology and risk factors.

• Ganesan AN, Gunton J, Nucifora G, McGavigan AD, Selvanayagam JB. Impact of Late Gadolinium Enhancement on mortality, sudden death and major adverse cardiovascular events in ischemic and non-ischemic cardiomyopathy: A systematic review and meta-analysis. Int J Cardiol 2018;254:230-237.
  # Systematic review on LGE in MRI and its impact on mortality, especially SCD in ICM and NICM.

• Briceño DF, Romero J, Villablanca PA, Londoño A, Diaz JC, Maraj I, Batul SA, Madan N, Patel J, Jagannath A, Mohanty S, Mohanty P, Gianni C, Della Rocca D, Sabri A, Kim SG, Natale A, Di Biase L. Long-term outcomes of different ablation strategies for ventricular tachycardia in patients with structural heart disease: systematic review and meta-analysis. Europace 2018;20(1):104-115.
  # Systematic review and meta-analysis on VT ablation in patients with structural heart disease. Substrate modification shows a significantly lower risk of long-term VT recurrence and all-cause mortality in patients with structural heart disease. Rahimi K, Bennett D, Conrad N, Williams TM, Basu J, Dwight J, Woodward M, Patel A, McMurray J, MacMahon S. Risk prediction in patients with heart failure: a systematic review and analysis. JACC Heart Fail 2014;2:440-6
  # Systematic review on risk prediction models in heart failure.

• Huikuri HV, Castellanos A, Myerburg RJ. Sudden death due to cardiac arrhythmias. N Engl J Med 2001;345:1473-82
  # Pioneering review on mechanisms of sudden arrhythmic death.

• Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med. 2016 Jun 23;374(25):2441-52.
  # Prospective study on sudden cardiac death in persons between 1 and 35 years of age in Australia and New Zealand. The most common explained causes of sudden cardiac death were coronary artery disease (24% of cases) and inherited cardiomyopathies (16% of cases). Adding genetic testing to autopsy investigation substantially increased identification of a possible cause of sudden cardiac death among children and young adults.

• The Multicenter Postinfarction Research Group. Risk stratification and survival after myocardial infarction. N Engl J Med 1983;309:331-6
  # Early study in the 1980s and 90s showing that an LVEF of less than 40% represents a predictor for mortality.

• Rouleau JL, Talajic M, Sussex B, Potvin L, Warnica W, Davies RF, Gardner M, Stewart D, Plante S, Dupuis R, Lauzon C, Ferguson J, Mikes E, Balnozan V, Savard P. Myocardial infarction patients in the 1990s – their risk factors, stratification and survival in Canada: the Canadian Assessment of Myocardial Infarction (CAMI) Study. J Am Coll Cardiol 1996;27:1119-27
  # The CAMI study demonstrated an increasing risk of mortality with increasing impairment of LVEF. Patients with an LVEF of 30% or below had a 9.48fold higher risk of mortality at one year compared to patients with an LVEF of 50% or more.

• Moss AJ, Hall WJ, Cannom DS, Daubert JP, Higgins SL, Klein H, Levine JH, Saksena S, Waldo AL, Wilber D, Brown MW, Heo M. Improved survival with an implanted defibrillator in patients with coronary disease at high risk for ventricular arrhythmia. Multicenter Automatic Defibrillator Implantation Trial Investigators. N Engl J Med 1996;335(26):1933-40
  # First MADIT study showing that patients after myocardial infarction, with LVEF of 35% or less, history of VT/VF and inducible VT in EP study have a survival benefit with an ICD.

• Buxton AE, Lee KL, Fisher JD, Josephson ME, Prystowsky EN, Hafley G. A randomized study of the prevention of sudden death in patients with coronary artery disease. Multicenter Unsustained Tachycardia Trial Investigators. N Engl J Med. 1999;341(25):1882-90
  # The MUSTT trial was a randomized trial on EP-guided ICD therapy. Patients with coronary artery disease, LVEF of 40% or less and nsVTs received a programmed ventricular stimulation. Patients with inducible sustained VT were randomized to either antiarrhythmic therapy (drugs or ICD) or no antiarrhythmic therapy. Only patients with an ICD, but neither with antiarrhythmic drugs nor without antiarrhythmic therapy showed a reduced risk of sudden death.

• Moss AJ, Zareba W, Hall WJ, Klein H, Wilber DJ, Cannom DS, Daubert JP, Higgins SL, Brown MW, Andrews ML. Prophylactic implantation of a defibrillator in patients with myocardial infarction and reduced ejection fraction. N Engl J Med 2002;346:877-83
  # The MADIT II trial was a pivotal trial for primary prevention ICD therapy. Patients after myocardial infarction with LVEF 30% or less were randomized to ICD implantation vs. medical therapy. ICD therapy significantly reduced mortality during a mean follow-up of 20 months.

• Bardy GH, Lee KL, Mark DB, Poole JE, Packer DL, Boineau R, Domanski M, Troutman C, Anderson J, Johnson G, McNulty SE, Clapp-Channing N, Davidson-Ray LD, Fraulo ES, Fishbein DP, Luceri RM, Ip JH, Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) Investigators. Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure. N Engl J Med 2005;352:225-37
  # SCD-HeFT was another pivotal trial for primary prevention ICD therapy. Randomization of heart failure patients (NYHA II and III) with an LVEF of 35% or less after 3 months optimal medical therapy. Etiology of heart failure was ischemic and non-ischemic cardiomyopathy. Three arms: standard therapy plus placebo vs. standard therapy plus amiodarone vs. standard therapy plus ICD implantation.

• Gorgels AP, Gijsbers C, de Vreede-Swagemakers, Lousberg A, Wellens HJ. Out-of-hospital cardiac arrest – the relevance of heart failure. The Maastricht Circulatory Arrest Registry. Eur Heart J 2003;24(13):1204-9
  # Registry on relevance of heart failure in out-of-hospital cardiac arrests in Maastricht. 

• Khatibzadeh S, Farzadfar F, Oliver J, Ezzati M, Moran A. Worldwide risk factors for heart failure: a systematic review and pooled analysis. Int J Cardiol. 2013;168(2):1186-94.
  # Systematic review on risk factors for heart failure with respect to regional variations.

• Mirowski M, Reis PR, Mower MM, Watkins L, Gott VL, Schauble JF, Langer A, Heilman MS, Kolenik SA, Fischell RE, Weisfeldt ML. Termination of malignant ventricular arrhythmias with an implanted automatic defibrillator. N Engl J Med 1980;303:322-32
  # The ICD is used to terminate ventricular arrhythmias.

• Chioncel O, Lainscak M, Seferovic PM, Anker SD, Crespo-Leiro MG, Harjola VP, Parissis J, Laroche C, Piepoli MF, Fonseca C, Mebazaa A, Lund L, Ambrosio GA, Coats AJ, Ferrari R, Ruschitzka F, Maggioni AP, Filippatos G. Epidemiology and one-year outcomes in patients with chronic heart failure and preserved, mid-range and reduced ejection fraction: an analysis of the ESC Heart Failure Long-Term Registry. Eur J Heart Fail 2017;19(12):1574-85
  # Epidemiological and outcome study on ambulatory heart failure patients in Europe.

Non-ischemic cardiomyopathies

Idiopathic dilated cardiomyopathies

• McKenna WJ, Maron BJ, Thiene G. Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circ Res. 2017 Sep 15;121(7):722-730.
  # Review on classification and epidemiology of cardiomyopathies.

• McNally EM, Mestroni L. Dilated cardiomyopathy: Genetic determinants and mechanisms. Circ Res 2017;121(7):731-48.
  # Contemporary review on diagnosis and management of DCM including role of genetic testing.

• Halliday BP, Cleland JGF, Goldberger JJ, Prasad SK. Personalizing Risk Stratification for Sudden Death in Dilated Cardiomyopathy: The Past, Present, and Future. Circulation 2017;136(2):215-231.
  # Review on risk stratification in DCM.

• Shun-Shin MJ, Zheng SL, Cole GD, Howard JP, Whinnett ZI, Francis DP. Implantable cardioverter defibrillators for primary prevention of death in left ventricular dysfunction with and without ischaemic heart disease: a meta-analysis of 8567 patients in the 11 trials. Eur Heart J 2017;38(22):1738-1746
  # Meta-analysis on ICD for primary prevention in patients with and without ischemic heart disease. Even after inclusion of the DANISH study, this meta-analysis confirms a significant mortality reduction in ischemic and non-ischemic cardiomyopathy.El Moheb M, Nicolas J, Khamis AM, Iskandarani G, Akl EA, Refaat M. Implantable cardiac defibrillators for people with non-ischaemic cardiomyopathy. Cochrane Database Syst Rev 2018;12:CD012738# Cochrane review on ICD in non-ischemic cardiomyopathy showing a reduction in all-cause mortality and sudden cardiac death compared to medical therapy.

• Ganesan AN, Gunton J, Nucifora G, McGavigan AD, Selvanayagam JB. Impact of Late Gadolinium Enhancement on mortality, sudden death and major adverse cardiovascular events in ischemic and non-ischemic cardiomyopathy: A systematic review and meta-analysis. Int J Cardiol 2018;254:230-237.
  # Systematic review on LGE in MRI and its impact on mortality, especially SCD in ICM and NICM.

• Maggioni AP. Epidemiology of Heart Failure in Europe. Heart Fail Clin 2015;11(4):625-35
  #Review on epidemiology of heart failure in Europe.
• Rahimi K, Bennett D, Conrad N, Williams TM, Basu J, Dwight J, Woodward M, Patel A, McMurray J, MacMahon S. Risk prediction in patients with heart failure: a systematic review and analysis. JACC Heart Fail 2014;2:440-6
  # Systematic review on risk prediction models in heart failure.

• Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, Burnett JC, Rodeheffer RJ, Chesebro JH, Tazelaar HD. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy N Engl J Med 1992;326:77–82.
  # Early study on 59 index patients with DCM showing familial cumulation.

• Bardy GH, Lee KL, Mark DB, Poole JE, Packer DL, Boineau R, Domanski M, Troutman C, Anderson J, Johnson G, McNulty SE, Clapp-Channing N, Davidson-Ray LD, Fraulo ES, Fishbein DP, Luceri RM, Ip JH, Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT) Investigators. Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure. N Engl J Med 2005;352:225-37
  # SCD-HeFT was another pivotal trial for primary prevention ICD therapy. Randomization of heart failure patients (NYHA II and III) with an LVEF of 35% or less after 3 months optimal medical therapy. Etiology of heart failure was ischemic and non-ischemic cardiomyopathy. Three arms: standard therapy plus placebo vs. standard therapy plus amiodarone vs. standard therapy plus ICD implantation.

• Kadish A, Dyer A, Daubert JP, Quigg R, Estes NAM, Anderson KP, Calkins H, Hoch D, Goldberger J, Shalaby A, Sanders WE, Schaechter A, Levine JH, Defibrillators in Non-Ischemic Cardiomyopathy Treatment Evaluation (DEFINITE) Investigators. Prophylactic defibrillator implantation in patients with non-ischemic dilated cardiomyopathy. N Engl J Med 2004;350:2151–2158.
• Køber L, Thune JJ, Nielsen JC, Haarbo J, Videbæk L, Korup E, Jensen G, Hildebrandt P, Steffensen FH, Bruun NE, Eiskjær H, Brandes A, Thøgersen AM, Gustafsson F, Egstrup K, Videbæk R, Hassager C, Svendsen JH, Høfsten DE, Torp-Pedersen C, Pehrson S; DANISH Investigators. Defibrillator Implantation in Patients with Non-ischemic Systolic Heart Failure. N Engl J Med. 2016;375(13):1221-30.
• Crespo-Leiro MG, Anker SD, Maggioni AP, Coats AJ, Filippatos G, Ruschitzka F, Ferrari R, Piepoli MF, Delgado Jimenez JF, Metra M, Fonseca C, Hradec J, Amir O, Logeart D, Dahlström U, Merkely B, Drozdz J, Goncalvesova E, Hassanein M, Chioncel O, Lainscak M, Seferovic PM, Tousoulis D, Kavoliuniene A, Fruhwald F, Fazlibegovic E, Temizhan A, Gatzov P, Erglis A, Laroche C, Mebazaa A; Heart Failure Association (HFA) of the European Society of Cardiology (ESC). European Society of Cardiology Heart Failure Long-Term Registry (ESC-HF-LT): 1-year follow-up outcomes and differences across regions. Eur J Heart Fail. 2016;18(6):613-25
  # ESC heart failure long-term registry including 12.440 patients showing outcome and regional differences.

• Chioncel O, Lainscak M, Seferovic PM, Anker SD, Crespo-Leiro MG, Harjola VP, Parissis J, Laroche C, Piepoli MF, Fonseca C, Mebazaa A, Lund L, Ambrosio GA, Coats AJ, Ferrari R, Ruschitzka F, Maggioni AP, Filippatos G. Epidemiology and one-year outcomes in patients with chronic heart failure and preserved, mid-range and reduced ejection fraction: an analysis of the ESC Heart Failure Long-Term Registry. Eur J Heart Fail 2017;19(12):1574-85
  # Epidemiological and outcome study on ambulatory heart failure patients in Europe.

Hypertrophic cardiomyopathies

• Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002;287:1308-20.
  # Systematic review on HCM.

• Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: Genetics, Pathogenesis, Clinical manifestations, Diagnosis, and Therapy. Circ Res 2017;121(7):749-770
  # Outstanding recent overview on current knowledge on HCM.

• Maron BJ. Risk stratification and role of implantable defibrillators for prevention of sudden death in patients with hypertrophic cardiomyopathy. Circ J 2010;74(11):2271-82
  # Review on risk stratification and ICD therapy in HCM patients.

• Semsarian C, Ingles J, Maron MS, Maron BJ. New perspectives on the prevalence of hypertrophic cardiomyopathy. JACC 2015;65(12):1249-54
  # Recent review on prevalence of HCM, taking into account modern advances in diagnostic testing including genetics and imaging.

• Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE. Shared genetic causes of cardiac hypertrophy in children and adults. N Engl J Med. 2008 May 1;358(18):1899-908.
  # Study on genetic causes in familial cardiac hypertrophy.

• Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M; EUROGENE Heart Failure Project. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21.
  # Study on gene distribution and proposition sequential genetic diagnostic for a structured diagnostic roll-up.

• Rogers DP, Marazia S, Chow AW, Lambiase PD, Lowe MD, Frenneaux M, McKenna WJ, Elliott PM. Effect of biventricular pacing on symptoms and cardiac remodelling in patients with end-stage hypertrophic cardiomyopathy. Eur J Heart Fail. 2008 May;10(5):507-13. Small study on CRT in end-stage HCM patients showing improvement of HF symptoms.
• Robinson K, Frenneaux MP, Stockins B, Karatasakis G, Poloniecki JD, McKenna WJ. Atrial fibrillation in hypertrophic cardiomyopathy: a longitudinal study. J Am Coll Cardiol. 1990 May;15(6):1279-85.
  # Matched retrospective study on AF in HCM patients.

• Di Donna P, Olivotto I, Delcrè SD, Caponi D, Scaglione M, Nault I, Montefusco A, Girolami F, Cecchi F, Haissaguerre M, Gaita F. Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression. Europace. 2010 Mar;12(3):347-55.
  # AF ablation is effective in HCM patients. Younger patients with smaller LA volumes and milder symptoms benefitted most.

• Elliott PM, Gimeno JR, Thaman R, Shah J, Ward D, Dickie S, Tome Esteban MT, McKenna WJ. Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy. Heart. 2006 Jun;92(6):785-91. Epub 2005 Oct 10.
  # Comparison of survival in HCM with historical cohorts. Improvement in survival rates within the last 40 years is shown.

• Elliott PM, Sharma S, Varnava A, Poloniecki J, Rowland E, McKenna WJ. Survival after cardiac arrest or sustained ventricular tachycardia in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1999 May;33(6):1596-601.
  # Small study on 16 HCM patients with survived cardiac arrest showing that these patients remain at risk for recurrences of SCD and may benefit from ICD therapy.

• O'Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J. 2014 Aug 7;35(30):2010-20.
  # SCD risk prediction model for HCM patients.

• O'Mahony C, Lambiase PD, Rahman SM, Cardona M, Calcagnino M, Quarta G, Tsovolas K, Al-Shaikh S, McKenna W, Elliott P. The relation of ventricular arrhythmia electrophysiological characteristics to cardiac phenotype and circadian patterns in hypertrophic cardiomyopathy. Europace. 2012 May;14(5):724-33.
  # Study on characterization and circadian variation of VTA in HCM patients with ICD.

• Maron BJ, Spirito P, Shen WK, Haas TS, Formisano F, Link MS, Epstein AE, Almquist AK, Daubert JP, Lawrenz T, Boriani G, Estes NA 3rd, Favale S, Piccininno M, Winters SL, Santini M, Betocchi S, Arribas F, Sherrid MV, Buja G, Semsarian C, Bruzzi P. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA. 2007 Jul 25;298(4):405-12.
  # Study on ICD therapy for prevention of SCD in patients with HCM.

• Braunwald E, Lambrew CT, Rockoff SD, Ross J Jr, Morrow AG. Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based opon an analysis of 64 patients. Circulation 1964.30:Suppl 4:3-119
  # Early description of HCM.

• Maron BJ, Garin JM, Flack JM, Gadding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995. 92(4):785-9
  # Epidemiological study on prevalence of HCM in young adults. HCM was present in about 2:1000.

• Rapezzi C1, Arbustini E, Caforio AL, Charron P, Gimeno-Blanes J, Heliö T, Linhart A, Mogensen J, Pinto Y, Ristic A, Seggewiss H, Sinagra G, Tavazzi L, Elliott PM. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2013 May;34(19):1448-58.
• Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannapoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014;35:2733-79

Right ventricular arrhythmogenic cardiomyopathies

• Corrado D, Wichter T, Link MS, Hauer R, Marchlinski F, Anastasakis A, Bauce B, Basso C, Brunckhorst C, Tsatsopoulou A, Tandri H, Paul M, Schmied C, Pelliccia A, Duru F, Protonotarios N, Estes NA, McKenna WJ, Thiene G, Marcus FI, Calkins H. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement. Eur Heart J. 2015;36(46):3227-37.
  # This is international task force consensus statement on arrhythmogenic right ventricular cardiomyopathy/dysplasia with a comprehensive overview of currently used risk stratification algorithms and approaches to therapy, either pharmacological or non-pharmacological (device therapy, radiofrequency catheter ablation, surgical approaches as well as brief heart transplantation discussion). Recommendations are based on available data derived from non-randomized and observational studies and consensus within the conference panellists. When development of prognostic-therapeutic algorithms was controversial, management decisions were recommended to be individualized.

• Corrado D, van Tintelen PJ, McKenna WJ, Hauer RNW, Anastastakis A, Asimaki A, Basso C, Bauce B, Brunckhorst C, Bucciarelli-Ducci C, Duru F, Elliott P, Hamilton RM, Haugaa KH, James CA, Judge D, Link MS, Marchlinski FE, Mazzanti A, Mestroni L, Pantazis A, Pelliccia A, Marra MP, Pilichou K, Platonov PGA, Protonotarios A, Rampazzo A, Saffitz JE, Saguner AM, Schmied C, Sharma S, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A, Zareba W, Zorzi A, Wichter T, Marcus FI and Calkins H. Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis. European heart journal. 2019.
  # This is an updated consensus paper on current diagnostic criteria and differential diagnosis in ARVC. 

• Cadrin-Tourigny J, Bosman LP, Nozza A, Wang W, Tadros R, Bhonsale A, Bourfiss M, Fortier A, Lie OH, Saguner AM, Svensson A, Andorin A, Tichnell C, Murray B, Zeppenfeld K, van den Berg MP, Asselbergs FW, Wilde AAM, Krahn AD, Talajic M, Rivard L, Chelko S, Zimmerman SL, Kamel IR, Crosson JE, Judge DP, Yap SC, van der Heijden JF, Tandri H, Jongbloed JDH, Guertin MC, van Tintelen JP, Platonov PG, Duru F, Haugaa KH, Khairy P, Hauer RNW, Calkins H, Te Riele A and James CA. A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. European heart journal. 2019.
  # This paper introduces a novel risk score for ventricular arrhythmias in ARVC based on the so far largest ARVC population.  

• Corrado D, Link MS, Calkins H. Arrhythmogenic Right Ventricular Cardiomyopathy. N Engl J Med. 2017;376(1):61-72.
  # This recent review article focuses on our current understanding of the pathogenesis of arrhythmogenic right ventricular cardiomyopathy, as well as diagnostic criteria and approaches to risk stratification and therapy.

• Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R. Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: JACC State-of-the-Art Review. J Am Coll Cardiol. 2018;72(7):784-804.
  # This state-of-art-review discusses about challenges in arrhythmogenic right ventricular cardiomyopathy/dysplasia diagnosis due to the absence of specific unique diagnostic criteria, its variable expressivity, and incomplete penetrance. 

• Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T and Zareba W. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31:806-14.
  # 2010 Task force criteria for ARVC diagnosis

• Chung FP, Lin CY, Lin YJ, Chang SL, Lo LW, Hu YF, Tuan TC, Chao TF, Liao JN, Chang TY, Chen SA. Catheter Ablation of Ventricular Tachycardia in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. Korean Circ J. 2018;48(10):890-905.
  # This article reviews the important evolution on the delineation of arrhythmogenic substrates, ablation strategies, and ablation outcome of ventricular tachycardia in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

• Pathak RK, Garcia FC. Ablation of Ventricular Tachycardia in Arrhythmogenic Right Ventricular Dysplasia. Card Electrophysiol Clin. 2017;9(1):99-106.
  # This review focuses on the catheter ablation for ventricular arrhythmias in patients with arrhythmogenic right ventricular cardiomyopathy. 

• Romero J, Grushko M, Briceño DF, Natale A, Di Biase L. Radiofrequency Ablation in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Curr Cardiol Rep. 2017;19(9):82.
  # This paper reviews the current treatment for ventricular arrhythmias in the setting of arrhythmogenic right ventricular cardiomyopathy, with particular attention to radiofrequency ablation and its varied techniques, along with potential therapies in the ablation spectrum.

• Calkins H, Corrado D, Marcus F. Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation. 2017;136(21):2068-2082.
  # The primary purpose of this article was to provide a review of the literature that concerns risk stratification in patients with arrhythmogenic right ventricular cardiomyopathy. The most important parameters to consider when determining arrhythmic risk include electric instability, including the frequency of premature ventricular contractions and sustained ventricular arrhythmia; proband status; extent of structural disease; cardiac syncope; male sex; the presence of multiple mutations or a mutation in TMEM43; and the patient’s willingness to restrict exercise and to eliminate participation in competitive or endurance exercise.

• Lie ØH, Dejgaard LA, Saberniak J, Rootwelt C, Stokke MK, Edvardsen T and Haugaa KH. Harmful Effects of Exercise Intensity and Exercise Duration in Patients With Arrhythmogenic Cardiomyopathy. JACC: Clinical Electrophysiology. 2018.
  # Paper explaining the effects of exercise in ARVC

• Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). 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(8):1077-109.
• Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers, Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013;15(10):1389-406.

Neuromuscular cardiomyopathies

• Limipitikul W, Ong CS, Tomaselli GF. Neuromuscular Disease: Cardiac Manifestations and Sudden Death Risk. Card Electrophysiol Clin. 2017;9(4):731-747.
  # Review paper on cardiac manifestations of neuromuscular diseases. Becker, Duchenne, Emery-Dreifuss, facioscapulohumeral muscular dystrophies and Kearns-Sayre syndrome are analysed. 

• Ismail H, Raynor E, Zimetbaum P. Neuromuscular Disorders and the Role of the Clinical Electrophysiologist. JACC Clin Electrophysiol. 2017;3(10):1069-1079.
  # This paper reviews cardiac conduction defects and rhythm disturbances in neuromuscular disorders and propose some practical recommendations for arrhythmia monitoring and management of these patients. A thorough understanding of the clinical course of these diseases, including the risk of conduction disease and sudden cardiac death from ventricular tachyarrhythmias, is the role of the clinical electrophysiologist in a multidisciplinary care team.

• Finsterer J, Stöllberger C, Maeztu C. Sudden cardiac death in neuromuscular disorders. Int J Cardiol. 2016;203:508-15.
  # This review summarizes recent findings concerning epidemiology, risk stratification, and prevention of sudden cardiac death in patients with neuromuscular diseases. 

• Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T and Haugaa KH. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation. European heart journal. 2018;39:853-860.
  # Large study on outcome in patients with Lamin A/C disease and suggestions for follow up management.

• Mavrogeni S, Markousis-Mavrogenis G, Papavasiliou A, Kolovou G. Cardiac involvement in Duchenne and Becker muscular dystrophy. World J Cardiol. 2015;7(7):410-4.
• Bouhouch R1, Elhouari T, Oukerraj L, Fellat I, Zarzur J, Bennani R, Arharbi M. Management of cardiac involvement in neuromuscular diseases: review. Open Cardiovasc Med J. 2008;2:93-6.
  # Short review on the commonest neuromuscular diseases (Steinert's disease, Duchenne and Becker muscular dystrophies and Emery-Dreifuss Dystrophies) from the view of their cardiac manifestations and complications.

Valvular related cardiomyopathies 

• Miller MA, Dukkipati SR, Turagam M, Liao SL, Adams DH, Reddy VY. Arrhythmic Mitral Valve Prolapse: JACC Review Topic of the Week. J Am Coll Cardiol. 2018;72:2904-14.
  #. The authors review the reported incidence of sudden death to mitral valve prolapse, the clinical profile of at-risk patients, and the basic components necessary to initiate and perpetuate ventricular arrhythmias (substrate and trigger) as well as potential interventions to consider for those at highest risk. It is also mentioned that, currently, there are insufficient data supporting the role of prophylactic implantable cardioverter-defibrillator implantation in patients with mitral valve prolapse and high-risk features.

• Boudoulas KD1, Borer JS, Boudoulas H. Etiology of valvular heart disease in the 21st century. Cardiology. 2013;126(3):139-52.
• Rosano G. Valvular heart disease in heart failure. International Cardiovascular Forum Journal 2017;10:70-72.
  # This is a short review on valvular heart disease in heart failure divided into five sections (aortic stenosis, aortic regurgitation, mitral regurgitation, functional mitral regurgitation, tricuspid regurgitation).. 

• Maganti K, Rigolin VH, Sarano ME, Bonow RO. Valvular heart disease: diagnosis and management. Mayo Clin Proc. 2010;85(5):483-500.
  # Review article on valvular heart disease divided into following sections: aortic stenosis, aortic regurgitation, mitral regurgitation, tricuspid regurgitation. For each entity, etiology and pathophysiology, physical examination diagnostic testing and treatment are discussed.

• Dejgaard LA, Skjolsvik ET, Lie OH, Ribe M, Stokke MK, Hegbom F, Scheirlynck ES, Gjertsen E, Andresen K, Helle-Valle TM, Hopp E, Edvardsen T and Haugaa KH. The Mitral Annulus Disjunction Arrhythmic Syndrome. Journal of the American College of Cardiology. 2018;72:1600-1609.
  # Paper describing the mitral annulus disjunction itself as the arrhythmic substrate.

• Basso C, Perazzolo Marra M, Rizzo S, De Lazzari M, Giorgi B, Cipriani A, Frigo AC, Rigato I, Migliore F, Pilichou K, Bertaglia E, Cacciavillani L, Bauce B, Corrado D, Thiene G, Iliceto S. Arrhythmic Mitral Valve Prolapse and Sudden Cardiac Death. Circulation. 2015;132(7):556-66.
  # The authors reviewed cardiac pathology registry of 650 young adults (≤40 years of age) with SCD and cases with MVP as the only cause of SCD were re-examined. 

• Rodríguez-Mañero M, Barrio-López MT, Assi EA, Expósito-García V, Bertomeu-González V, Sánchez-Gómez JM, González-Torres L, García-Bolao I, Gaztañaga L, Cabanas-Grandío P, Iglesias-Bravo JA, Arce-León Á, la Huerta AA, Fernández-Armenta J, Peinado R, Arias MA, Díaz-Infante E. Primary Prevention of Sudden Death in Patients With Valvular Cardiomyopathy. Rev Esp Cardiol (Engl Ed). 2016;69(3):272-8.
  # This is a multicenter retrospective study aimed to describe the outcomes of valvular cardiomyopathy patients referred for defibrillator implantation for primary prevention. 

• Valles AG, Khawaja FJ, Gersh BJ, Enriquez-Sarano M, Friedman PA, Park SJ, Hodge DO, Cha YM. Implantable cardioverter defibrillators in patients with valvular cardiomyopathy. J Cardiovasc Electrophysiol. 2012;23(12):1326-32.
  # The aim was to investigate the outcomes of ICD implantation in patients who have surgery for valvular cardiomyopathy (VCM). Compared to VCM without ICD, patients with VCM and ICD had comparable survival despite a reduced LVEF following valve surgery, so it is concluded that patients with VCM who undergo ICD implantation for SCD prevention have similar appropriate ICD discharge rates and mortality as do those with ICM and DCM. 

• Boriani G, Gasparini M, Landolina M, Lunati M, Biffi M, Santini M, Padeletti L, Molon G, Botto G, De Santo T, Valsecchi S; InSync/InSync ICD Italian Registry Investigators. Effectiveness of cardiac resynchronization therapy in heart failure patients with valvular heart disease: comparison with patients affected by ischaemic heart disease or dilated cardiomyopathy. The InSync/InSync ICD Italian Registry. Eur Heart J. 2009;30(18):2275-83.
  # This study aimed to analyse the effectiveness of CRT in patients with valvular heart disease in comparison with ischaemic heart disease (IHD) or dilated cardiomyopathy (DCM) patients. It  concluded that CRT is also effective in valvular heart disease. However, outcome after CRT does not precisely overlap any of the two other groups of patients. 

• Doherty JU, Kort S, Mehran R, Schoenhagen P, Soman P. ACC/AATS/AHA/ASE/ASNC/HRS/SCAI/SCCT/SCMR/STS 2017 Appropriate Use Criteria for Multimodality Imaging in Valvular Heart Disease: A Report of the American College of Cardiology Appropriate Use Criteria Task Force, American Association for Thoracic Surgery, American Heart Association, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, Society of Cardiovascular Computed Tomography, Society for Cardiovascular Magnetic Resonance, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2017;70(13):1647-1672. 
• Matiasz R, Rigolin V. 2017 Focused update for management of patients with valvular heart disease: summary of new recommendations. J Am Heart Assoc. 2018; 7(1): e007596.

Congenital diseases

• Carlson SK, Patel AR, Chang PM. Bradyarrhythmias in Congenital Heart Disease. Card Electrophysiol Clin. 2017;9(2):177-187.
• Cecchin F, Halpern DG. Cardiac Arrhythmias in Adults with Congenital Heart Disease: Pacemakers, Implantable Cardiac Defibrillators, and Cardiac Resynchronization Therapy Devices. Card Electrophysiol Clin. 2017;9(2):319-328.
  # Review paper on important issues regarding device implantation in adult congenital heart disease (venous access to chambers, venous obstruction, coronary sinus location, venous anomalies, cardiac position, dilated chambers, comorbidities, high capture thresholds or poor sensing due to fibrosis, oversensing due to chamber hypertrophy, and valve-related issues). 

• Combes N, Derval N, Hascoët S, Zhao A, Amet D, Le Bloa M, Maltret A, Heitz F, Thambo JB, Marijon E. Ablation of supraventricular arrhythmias in adult congenital heart disease: A contemporary review. Arch Cardiovasc Dis. 2017;110(5):334-345.
  # This article reviews supraventricular arrhythmias ablation in adults with congenital heart disease. 

• Khairy P. Ventricular arrhythmias and sudden cardiac death in adults with congenital heart disease. Heart. 2016;102(21):1703-1709.
  # This article reviews ventricular arrhythmia and sudden cardiac death in adults with congenital heart disease. 

• Loomba RS, Buelow MW, Aggarwal S, Arora RR, Kovach J, Ginde S. Arrhythmias in Adults with Congenital Heart Disease: What Are Risk Factors for Specific Arrhythmias? Pacing Clin Electrophysiol. 2017;40(4):353-361.
  # Admissions with congenital heart disease were identified in the National Inpatient Sample (United States). 

• McLeod CJ. Acute arrhythmias in adults with congenital heart disease. Heart. 2017;103(17):1380-1388. 
• Sathananthan G, Harris L, Nair K. Ventricular Arrhythmias in Adult Congenital Heart Disease: Mechanisms, Diagnosis, and Clinical Aspects. Card Electrophysiol Clin. 2017;9(2):213-223.
  # This review analyses pathophysiology, mechanisms for ventricular arrhythmias, and risk factors for ventricular arrhythmias and sudden cardiac death in the most common adult congenital heart diseases.

• Van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol. 2011;58(21):2241-7.
  # This systematic review included 114 papers, comprising a total study population of 24,091,867 live births with CHD identified in 164,396 individuals. Reported total CHD birth prevalence increased substantially over time but over the last 15 years (year of the paper publication is 2011), stabilization occurred, corresponding to 1.35 million new-borns with CHD every year. Triedman JK, Newburger JW. Trends in Congenital Heart Disease: The Next Decade. Circulation. 2016;133(25):2716-33.
  # Review article on congenital heart disease and its future perspective. Discussions about genetics, regenerative medicine / 3-dimensional printing, neurodevelopment, cardiac registries / databases, risk stratifications etc. are made.

• Stout KK, Broberg CS, Book WM, Cecchin F, Chen JM, Dimopoulos K, Everitt MD, Gatzoulis M, Harris L, Hsu DT, Kuvin JT, Law Y, Martin CM, Murphy AM, Ross HJ, Singh G, Spray TL; American Heart Association Council on Clinical Cardiology, Council on Functional Genomics and Translational Biology, and Council on Cardiovascular Radiology and Imaging. Chronic Heart Failure in Congenital Heart Disease: A Scientific Statement From the American Heart Association. Circulation. 2016;133(8):770-801.
• Canobbio MM, Warnes CA, Aboulhosn J, Connolly HM, Khanna A, Koos BJ, Mital S, Rose C, Silversides C, Stout K; American Heart Association Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Cardiovascular Disease in the Young; Council on Functional Genomics and Translational Biology; and Council on Quality of Care and Outcomes Research. Management of Pregnancy in Patients with Complex Congenital Heart Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association. Circulation. 2017;135(8):e50-e87.
• Khairy P, Van Hare GF, Balaji S, Berul CI, Cecchin F, Cohen MI, Daniels CJ, Deal BJ, Dearani JA, Groot Nd, Dubin AM, Harris L, Janousek J, Kanter RJ, Karpawich PP, Perry JC, Seslar SP, Shah MJ, Silka MJ, Triedman JK, Walsh EP, Warnes CA. PACES/HRS Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease: developed in partnership between the Paediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Endorsed by the governing bodies of PACES, HRS, the American College of Cardiology (ACC), the American Heart Association (AHA), the European Heart Rhythm Association (EHRA), the Canadian Heart Rhythm Society (CHRS), and the International Society for Adult Congenital Heart Disease (ISACHD). Heart Rhythm. 2014;11(10):e102-65.

Other (Chagas disease, etc.)

• Pérez-Molina JA, Molina I. Chagas disease. Lancet. 2018;391(10115):82-94.
  # Recent review on Chagas disease. 

• Carmo AAL, de Sousa MR, Agudelo JF, Boersma E, Rocha MOC, Ribeiro ALP, Morillo CA. Implantable cardioverter-defibrillator in Chagas heart disease: A systematic review and meta-analysis of observational studies. Int J Cardiol. 2018;267:88-93.
  # The aim of this meta-analysis was to assess the efficacy of the ICD for secondary prevention in patients with ChCM. It is concluded that the available evidence derived from small observational studies suggests that ICD therapy in secondary prevention of sudden death (VT or resuscitated SCD).

• Rojas LZ, Glisic M, Pletsch-Borba L, Echeverría LE, Bramer WM, Bano A, Stringa N, Zaciragic A, Kraja B, Asllanaj E, Chowdhury R, Morillo CA, Rueda-Ochoa OL, Franco OH, Muka T. Electrocardiographic abnormalities in Chagas disease in the general population: A systematic review and meta-analysis. PLoS Negl Trop Dis. 2018;12(6):e0006567.
  # This is systematic review and meta-analysis of the population-based studies that compared prevalence of overall and specific ECG abnormalities between Chagas disease and non-Chagas disease participants in the general population..

• Muchtar E, Blauwet LA, Gertz MA. Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. CircRes. 2017;121:819-837
  # In this review, an overview of RCMs will be presented followed by a detailed discussion on three major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis.

• Sharma AN, Tan M, Amsterdam EA, Singh GD. Acromegalic cardiomyopathy: Epidemiology, diagnosis, and management. Clin Cardiol. 2018;41(3):419-425.
• Mosca S, Paolillo S, Colao A, Bossone E, Cittadini A, Iudice FL, Parente A, Conte S, Rengo G, Leosco D, Trimarco B, Filardi PP. Cardiovascular involvement in patients affected by acromegaly: an appraisal. Int J Cardiol. 2013;167(5):1712-8.
• Lorenzo-Almorós A, Tuñón J, Orejas M, Cortés M, Egido J, Lorenzo Ó. Diagnostic approaches for diabetic cardiomyopathy. Cardiovasc Diabetol. 2017;16(1):28.
• Montaigne D, Pentiah AD. Mitochondrial cardiomyopathy and related arrhythmias. Card Electrophysiol Clin. 2015;7(2):293-301.
  # This article briefly discusses the basics of mitochondrial physiology and details the mechanisms generating arrhythmias due to mitochondrial dysfunction. The clinical spectrum of inherited and acquired cardiomyopathies associated with mitochondrial dysfunction is discussed followed by general aspects of the management of mitochondrial cardiomyopathy and related arrhythmia.

• Geske JB, Anavekar NS, Nishimura RA, Oh JK, Gersh BJ. Differentiation of Constriction and Restriction: Complex Cardiovascular Hemodynamics. J Am Coll Cardiol. 2016;68(21):2329-2347.
  # This is a review of the pathophysiology, hemodynamics, diagnostic assessment, and therapeutic approach to patients presenting with CP and RCM.

• Habib G, Bucciarelli-Ducci C, Caforio ALP, Cardim N, Charron P, Cosyns B, Dehaene A, Derumeaux G, Donal E, Dweck MR, Edvardsen T, Erba PA, Ernande L, Gaemperli O, Galderisi M, Grapsa J, Jacquier A, Klingel K, Lancellotti P, Neglia D, Pepe A, Perrone-Filardi P, Petersen SE, Plein S, Popescu BA, Reant P, Sade LE, Salaun E, Slart RHJA, Tribouilloy C, Zamorano J; EACVI Scientific Documents Committee; Indian Academy of Echocardiography. Multimodality Imaging in Restrictive Cardiomyopathies: An EACVI expert consensus document In collaboration with the "Working Group on myocardial and pericardial diseases" of the European Society of Cardiology Endorsed by The Indian Academy of Echocardiography. Eur Heart J Cardiovasc Imaging. 2017;18(10):1090-1121.

Channelopaties and other inherited syndromes

Long and short QT syndromes

• Schwartz PJ, Ackerman MJ. The long QT syndrome: a transatlantic clinicalapproach to diagnosis and therapy. Eur Heart J. 2013 Oct;34(40):3109-16. doi:10.1093/eurheartj/eht089.
  # A very concise, step-by-step explanation of the clinical approach to diagnosis and therapy in presumed long QT syndrome by two of the most renowned authours in this field.

• Sauer AJ, Moss AJ, McNitt S, Peterson DR, Zareba W, Robinson JL, Qi M,Goldenberg I, Hobbs JB, Ackerman MJ, Benhorin J, Hall WJ, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. Long QTsyndrome in adults. J Am Coll Cardiol. 2007 Jan 23;49(3):329-37.
  # In paper the authours discuss the risk factors associated with fatal or near-fatal cardiac events in adult subjects with genotype-positive LQTS.

• Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, WildeAA, Ackerman MJ. Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 Nov 3;120(18):1752-60. doi:10.1161/CIRCULATIONAHA.109.863076.
  # As genetic tests in long QT syndrome are important for diagnosis, prognosis and therapy, correct interpretation of the results is of utmost importance. The paper emphasizes the probabilistic nature of genetic test and argues against binary (positive/negative) interpretation. 

• Rohatgi RK, Sugrue A, Bos JM, Cannon BC, Asirvatham SJ, Moir C, Owen HJ, BosKM, Kruisselbrink T, Ackerman MJ. Contemporary Outcomes in Patients With Long QT Syndrome. J Am Coll Cardiol. 2017 Jul 25;70(4):453-462. doi:10.1016/j.jacc.2017.05.046.
  # A retrospective study examining patients with LQTS managed at Mayo Clinic showed that after establishing patient-tailored LQTS directed treatment programme mortality should be very low (<1% in more than 4000 patient-years).

• Taggart NW, Haglund CM, Tester DJ, Ackerman MJ. Diagnostic miscues in congenital long-QT syndrome. Circulation. 2007 May 22;115(20):2613-20.
  # The authors report on their experience about most prevalent reasons of overdiagnosis of congenital LQTS. 

• Schwartz PJ, Priori SG, Cerrone M, Spazzolini C, Odero A, Napolitano C, Bloise R, De Ferrari GM, Klersy C, Moss AJ, Zareba W, Robinson JL, Hall WJ, Brink PA, Toivonen L, Epstein AE, Li C, Hu D. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation. 2004 Apr 20;109(15):1826-33.
  # Left cardiac sympathetic denervation was shown to be a useful therapeutic option in high-risk LQTS patients who continue to have symptoms despite optimal therapy with beta-blockers.

• Ackerman MJ, Priori SG, Dubin AM, Kowey P, Linker NJ, Slotwiner D, Triedman J, Van Hare GF, Gold MR. Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent? Heart Rhythm. 2017 Jan;14(1):e41-e44. doi: 10.1016/j.hrthm.2016.09.012.
  # In this paper the authors argue that nadolol is the most effective beta blocker for the treatment of LQTS and CPVT.

• Pereira R, Campuzano O, Sarquella-Brugada G, Cesar S, Iglesias A, Brugada J, Cruz Filho FES, Brugada R. Short QT syndrome in pediatrics. Clin Res Cardiol. 2017 Jun;106(6):393-400. doi: 10.1007/s00392-017-1094-1.
  # Overview of the epidemiology, clinical presentation, diagnostic assesment and treatment of patients with short QT syndrome. 

• Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). 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 Aug;13(8):1077-109. doi:10.1093/europace/eur245. 
• Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck KH, Hernandez-Madrid A, Nikolaou N, Norekvål TM, Spaulding C, Van Veldhuisen DJ; Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Europace. 2015 Nov;17(11):1601-87. doi: 10.1093/europace/euv319. 
• Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers, Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert  C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013 Oct;15(10):1389-406. doi: 10.1093/europace/eut272. 

Brugada syndromes

• Sieira J, Dendramis G, Brugada P. Pathogenesis and management of Brugadasyndrome. Nat Rev Cardiol. 2016 Dec;13(12):744-756. doi:10.1038/nrcardio.2016.143.
  # A detailed, comprehensive review of all aspects of Brugada syndrome.

• Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992 Nov 15;20(6):1391-6.
  # The original publication of 8 patients who presented with recurrent episodes of aborted sudden cardiac death, right bundle branch block and persistent ST elevations in right precordial leads – the clinical syndrome later defined as Brugada syndrome. 

• Letsas KP, Asvestas D, Baranchuk A, Liu T, Georgopoulos S, Efremidis M, Korantzopoulos P, Bazoukis G, Tse G, Sideris A, Takagi M, Ehrlich JR. Prognosis, risk stratification, and management of asymptomatic individuals with Brugada syndrome: A systematic review. Pacing Clin Electrophysiol. 2017 Dec;40(12):1332-1345. doi: 10.1111/pace.13214.
  # With better diagnostic methods Brugada syndrome is diagnosed in more frequently in asymptomatic patients. This paper deals with risk stratification in such patients. 

• Casado-Arroyo R, Berne P, Rao JY, Rodriguez-Mañero M, Levinstein M, Conte G, Sieira J, Namdar M, Ricciardi D, Chierchia GB, de Asmundis C, Pappaert G, La Meir M, Wellens F, Brugada J, Brugada P. Long-Term Trends in Newly Diagnosed Brugada Syndrome: Implications for Risk Stratification. J Am Coll Cardiol. 2016 Aug 9;68(6):614-623. doi: 10.1016/j.jacc.2016.05.073.
  # The presentation of Brugada syndrome, has changed since it was first described. There has been a decrease in aborted sudden cardiac death as the first manifestation of the disease among patients who were diagnosed more recently.

• Tadros R, Nannenberg EA, Lieve KV, Škorić-Milosavljević D, Lahrouchi N, Lekanne Deprez RH, Vendrik J, Reckman YJ, Postema PG, Amin AS, Bezzina CR, Wilde AAM, Tan HL. Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families. JACC Clin Electrophysiol. 2017 Dec 11;3(12):1400-1408. doi:10.1016/j.jacep.2017.04.005.
  # The paper argues against use of ajmaline in doses more than 1mg/kg, since it might lead to false-positive results. 

• Nademanee K, Hocini M, Haïssaguerre M. Epicardial substrate ablation for Brugada syndrome. Heart Rhythm. 2017 Mar;14(3):457-461. doi:10.1016/j.hrthm.2016.12.001.
  # Interventional electrophysiological treatment of Brugada syndrome.

• Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck KH, Hernandez-Madrid A, Nikolaou N, Norekvål TM, Spaulding C, Van Veldhuisen DJ; Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Europace. 2015 Nov;17(11):1601-87. doi: 10.1093/europace/euv319. 
• Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers, Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart RhythmSociety; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013 Oct;15(10):1389-406. doi: 10.1093/europace/eut272. 
• Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). 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 Aug;13(8):1077-109. doi:10.1093/europace/eur245. 

Catecholaminergic polymorphic ventricular tachycardia 

• Pérez-Riera AR, Barbosa-Barros R, de Rezende Barbosa MPC, Daminello-Raimundo R, de Lucca AA Jr, de Abreu LC. Catecholaminergic polymorphic ventricular tachycardia, an update. Ann Noninvasive Electrocardiol. 2018 Jul;23(4):e12512. doi: 10.1111/anec.12512.
  # Very comprehensive review of all aspects of CPVT.

• Sumitomo N. Current topics in catecholaminergic polymorphic ventricular tachycardia. J Arrhythm. 2016 Oct;32(5):344-351.
  # Review of the pathophysiological basis and classification of different subtypes of CPVT.

• Refaat MM, Hassanieh S, Scheinman M. Catecholaminergic Polymorphic Ventricular Tachycardia. Card Electrophysiol Clin. 2016 Mar;8(1):233-7. doi: 10.1016/j.ccep.2015.10.035.
  # A typical case report and short review of pathophysiology, diagnostic work-up and management of CPVT.

• Ackerman MJ, Priori SG, Dubin AM, Kowey P, Linker NJ, Slotwiner D, Triedman J, Van Hare GF, Gold MR. Beta-blocker therapy for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia: Are all beta-blockers equivalent? Heart Rhythm. 2017 Jan;14(1):e41-e44. doi: 10.1016/j.hrthm.2016.09.012.
  # In this paper the authors argue that nadolol is the most effective beta blocker for the treatment of LQTS and CPVT.

• Roston TM, Jones K, Hawkins NM, Bos JM, Schwartz PJ, Perry F, Ackerman MJ, Laksman ZWM, Kaul P, Lieve KVV, Atallah J, Krahn AD, Sanatani S. Implantable cardioverter-defibrillator use in catecholaminergic polymorphic ventricular tachycardia: A systematic review. Heart Rhythm. 2018 Dec;15(12):1791-1799. doi:10.1016/j.hrthm.2018.06.046.
  # In this systematic review of 53 studies ICD use in CPVT was associated with a high burden of shocks and complications. Improved adherence to guideline-directed management could reduce ICD utilization and harm. 

• Richardson E, Spinks C, Davis A, Turner C, Atherton J, McGaughran J, Semsarian C, Ingles J. Psychosocial Implications of Living with Catecholaminergic Polymorphic Ventricular Tachycardia in Adulthood. J Genet Couns. 2018 Jun;27(3):549-557. doi: 10.1007/s10897-017-0152-1.
  # Self-report survey study showed that younger patients, those with an ICD, and those with a positive genetic test are at an increased risk of poor psychological outcomes. 

• Cho Y. Left cardiac sympathetic denervation: An important treatment option for patients with hereditary ventricular arrhythmias. J Arrhythm. 2016 Oct;32(5):340-343
  # Left cardiac sympathetic denervation is an additional therapy option in CPVT  and LQTS patients with break-through events on optimal medical therapy. 

• Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, Elliott PM, Fitzsimons D, Hatala R, Hindricks G, Kirchhof P, Kjeldsen K, Kuck KH, Hernandez-Madrid A, Nikolaou N, Norekvål TM, Spaulding C, Van Veldhuisen DJ; Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Europace. 2015 Nov;17(11):1601-87.doi: 10.1093/europace/euv319. 
• Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J,Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers, Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013 Oct;15(10):1389-406. doi: 10.1093/europace/eut272. 
• Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, Hershberger RE, Judge DP, Le Marec H, McKenna WJ, Schulze-Bahr E, Semsarian C, Towbin JA, Watkins H, Wilde A, Wolpert C, Zipes DP; Heart Rhythm Society (HRS); European Heart Rhythm Association (EHRA). 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 Aug;13(8):1077-109. doi:10.1093/europace/eur245. 

Congenital conduction disorders

• Park DS, Fishman GI. The cardiac conduction system. Circulation. 2011 Mar 1;123(8):904-15. doi: 10.1161/CIRCULATIONAHA.110.942284.
  # A review of the gene families associated with cardiac conduction system diseases. 

• Baruteau AE, Probst V, Abriel H. Inherited progressive cardiac conduction disorders. Curr Opin Cardiol. 2015 Jan;30(1):33-9. doi:10.1097/HCO.0000000000000134.
  # A review of progressive cardiac conduction disorders (PCCD) and their clinical, genetic and molecular findings.

• Baruteau AE, Pass RH, Thambo JB, Behaghel A, Le Pennec S, Perdreau E, Combes N, Liberman L, McLeod CJ. Congenital and childhood atrioventricular blocks: pathophysiology and contemporary management. Eur J Pediatr. 2016 Sep;175(9):1235-1248. doi: 10.1007/s00431-016-2748-0.
  # Congenital atrioventricular block is usually due to immune mediated injury, but also genetic variants in multiple genes have been described as a culprit.

• Ishikawa T, Tsuji Y, Makita N. Inherited bradyarrhythmia: A diverse genetic background. J Arrhythm. 2016 Oct;32(5):352-358.
  # A review of culprit genes that result in inheritev bradyarrhythmias.

• Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers, Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society; European Heart Rhythm Association; Asia Pacific Heart Rhythm Society. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013 Oct;15(10):1389-406. doi: 10.1093/europace/eut272. Epub 2013 Aug 30. Review. PubMed PMID: 23994779.

Other

• Laurent G, Saal S, Amarouch MY, Béziau DM, Marsman RF, Faivre L, Barc J, Dina  C, Bertaux G, Barthez O, Thauvin-Robinet C, Charron P, Fressart V, Maltret A, Villain E, Baron E, Mérot J, Turpault R, Coudière Y, Charpentier F, Schott JJ, Loussouarn G, Wilde AA, Wolf JE, Baró I, Kyndt F, Probst V. Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy. J Am Coll Cardiol. 2012 Jul 10;60(2):144-56. doi: 10.1016/j.jacc.2012.02.052.
  # Description of a relatively novel channellopathy, where SCN5A gain-of-function mutation leads to hyperexcitability of fascicular-Purkinje system. 

• Visser M, van der Heijden JF, Doevendans PA, Loh P, Wilde AA, Hassink RJ. Idiopathic Ventricular Fibrillation: The Struggle for Definition, Diagnosis, and Follow-Up. Circ Arrhythm Electrophysiol. 2016 May;9(5). pii: e003817. doi:10.1161/CIRCEP.115.003817.
  # In this paper the authors propose a protocol for the diagnosis and follow-up of IVF. 

• Cheniti G, Vlachos K, Meo M, Puyo S, Thompson N, Denis A, Duchateau J, Takigawa M, Martin C, Frontera A, Kitamura T, Lam A, Bourier F, Klotz N, Derval N, Sacher F, Jais P, Dubois R, Hocini M, Haissaguerre M. Mapping and Ablation of Idiopathic Ventricular Fibrillation. Front Cardiovasc Med. 2018 Sep 18;5:123. doi: 10.3389/fcvm.2018.00123.
  # Idiopathic ventricular fibrillation is a diagnosis of exclusion. In majority of cases, IVF is triggered by PVCs that originate from the Purkinje network. Ablation of theses triggers in this setting is associated with high acute success.

• Antzelevitch C, Yan GX, Ackerman MJ, Borggrefe M, Corrado D, Guo J, Gussak I,  Hasdemir C, Horie M, Huikuri H, Ma C, Morita H, Nam GB, Sacher F, Shimizu W, Viskin S, Wilde AAM. J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge. Europace. 2017 Apr 1;19(4):665-694. doi:10.1093/europace/euw235. 
• Macfarlane PW, Antzelevitch C, Haissaguerre M, Huikuri HV, Potse M, Rosso R, Sacher F, Tikkanen JT, Wellens H, Yan GX. The Early Repolarization Pattern: A Consensus Paper. J Am Coll Cardiol. 2015 Jul 28;66(4):470-7. doi: 10.1016/j.jacc.2015.05.033.