Resources and Bibliography

Websites

 

Genomics & genetics educational and reference resources

Genomics England:

eLearning for healthcare:

NCBI:

Uptodate: 

Specialist societies:

Clinical Guidelines:

Healthcare Professional Medical Education

Annual conference and eLearning Courses - Cardiomyopathy UK Charity: https://www.cardiomyopathy.org/healthcare-professionals

 

Patient Support Groups

Other Useful Links

  • HEARTe Education Awareness Resource & Training through E-learning. This e-learning resource is aimed at health and social care staff who may:

    • be new to cardiac/heart disease – such as rotational staff or those new in post

    • wish to refresh / extend their existing cardiac knowledge and skills

    • be community based with a mixed pathology case load including cardiac patients

    • have limited access to other cardiac specific training

Books

Elliott P, Lambiaise P, Kumar D (Eds). The Oxford Handbook of Inherited Cardiac Disease. 2021. OUP

Publications

Key Publications

  • Wicks E, Dimarco A, Mohiddin S. GMC Curriculum: Delivery Tool for Core Training in Inherited Cardiovascular Conditions. 2022 (submitted). 

  • Page S, Wicks E. Measuring outcomes in patients with cardiomyopathy: which patients are we measuring outcomes in? Eur Heart Journal. EHJ-QCCO 2021; 7: 111-113. DOI: 10.1093/ehjqcco/qcab001.

  • Gimeno JR, Elliott PM, Tavazzi L, Tendera M, Kasksi JP, Laroche C, Barriales-Villa R, Seferovic P…Charron P and EORP Cardiomyopathy Registry Investigators Group. Prospective follow-up in various subtypes of cardiomyopathies: insights from the ESC EORP Cardiomyopathy Registry. Eur Heart J 2020; PMID: 33035297. Doi: 10.1093/ehjqcco/qcaa075.

  • Heliö T, Elliott P, Koskenvuo J, Gimeno J, Tavazzi L, Tendera M, Kaski JP,…Caforio ALP, Charron P and EORP Cardiomyopathy Registry Investigators Group. ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients. ESC Heart Fail 2020; 7(5):3013-3021. Doi: 10.1002/ehf2.12925.

  • Wicks EC, Protonotarios A (joint-co authors), Ashworth M, et al. Prevalence of 18F-fluorodeoxyglucose positron emission tomography abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy. Int Journal of cardiology. 284, 1 June 2019, 99-104 https://doi.org/10.1016/j.ijcard.2018.10.083

  • Elliott P, Charron P, Gimeno J, Tavazi L, Tendera M, Maggionni A, Caforio A, Linhart A, Rapezzi C, Wicks E, Arbustini E…Limongelli G, Findlay I, Olivotto I, Mogensen J, Monserrat et al. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology. EHJ. 2016 Jan 7. 37 (2): 164 – 173. doi: 10.1093/eurheartj/ehv497. Epub 2015 Sep 25. PMID: 26409010

  • Wicks EC, Syrris PM, Plagnol V, Elliott PM. The use of next generation sequencing to determine genotype-phenotype correlations in dilated cardiomyopathy. European Journal of Heart Failure. 2015; 17. Supp S1. DOI: 10.1002/ejhf.278. P1464.

  • Wicks EC, Elliott PM. Application of current diagnostic criteria for Arrhythmogenic Right Ventricular Cardiomyopathy in every day clinical practice. Current Pharmaceutical Design. 2015; 21 (4): 515-24. PMID: 25483953

  • Haas J, Frese KS, … Wicks E, …Charron P, Elliott P, Arbustini E, Katus HA, Meder B. Atlas of the Clinical Genetics of Human Dilated Cardiomyopathy. European Heart Journal. 2015. May 7; 36(18): 1123-35a. doi.10.1093/eurheartj/ehu301.

  • Wicks EC, Elliott PM. Genetics and metabolic cardiomyopathies. Herz. 2012: Sep; 37(6): 598-610. PMID: 22936369

 

Key References LQTS:

  1. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001; 103:89-95.

  2. Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation. 2011; 124:2181-2184.

  3. Mazzanti A, Maragna R, Vacanti G et al. Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. J Am Coll Cardiol. 2018; 71(15):1663-1671.

  4. 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.

  5. 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(12):1932-63.

  6. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med. 2003; 348(19):1866-74.

  7. Hobbs JB, Peterson DR, Moss AJ, et al. Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA 2006; 296:1249-54.

  8. Sy RW, van der Werf C, Chattha IS, et al. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation. 2011; 124(20):2187-94.

  9. Wong JA1, Gula LJ, Klein GJ, et al. Utility of treadmill testing in identification and genotype prediction in long-QT syndrome. Circ Arrhythm Electrophysiol. 2010; 3(2):120-5.

  10. Etheridge SP, Asaki SY, Niu MC. A personalized approach to long QT syndrome. Curr Opin Cardiol. 2019; 34(1):46-56.

Key references Brugada Syndrome: 

  1. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. J Am Coll Cardiol 1992; 20:1391–6.

  2. HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes. Heart Rhythm 2013; 10:1932–63.

  3. Raju H, Papadakis M, Govindan M, et al. Low Prevalence of Risk Markers in Cases of Sudden Death Due to Brugada Syndrome. Relevance to Risk Stratification in Brugada Syndrome. J Am Coll Cardiol 2011; 57:2340–5.

  4. Bayés de Luna A, Brugada J, et al. Current electrocardiographic criteria for diagnosis of Brugada pattern: a consensus report. J Electrocardiol 2012; 45:433–42.

  5. Chung EH, McNeely DE, Gehi AK, et al. Brugada-type patterns are easily observed in high precordial lead ECGs in collegiate athletes. J Electrocardiol 2014; 47:1–6.

  6. Amin AS, de Groot EA, Ruijter JM, et al. Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol 2009; 2:531–9.

  7. Takagi M, Sekiguchi Y, Yokoyama Y, et al. for the Japan Idiopathic Ventricular Fibrillation Study (J-IVFS )Investigators. Long-term prognosis inpatients with Brugada syndrome based on Class II indication for implantable cardioverter defibrillator in the HRS/EHRA/APHRS Expert Consensus Statement: Multicenter study in Japan. Heart Rhythm 2014; 11:1716–20.

  8. Priori SG, Gasparini M, Napolitano C, et al. Risk stratification in Brugada syndrome results of the PRELUDE (Programmed Electrical stimUlation preDictive valuE) registry. J Am Coll Cardiol 2012; 59:37–45.

  9. Rollin A, Sacher F, Gourraud JB, et al. Prevalence, characteristics, and prognosis role of type 1 ST elevation in the peripheral ECG leads in patients with Brugada syndrome. Heart Rhythm 2013; 10:1012–8.

  10. Fauchier L, Isorni MA, Clementy N, et al. Prognostic value of programmed ventricular stimulation in Brugada syndrome according to clinical presentation: an updated meta-analysis of worldwide published data. Int J Cardio 2013; 168:3027–3029.

  11. Kusano KF, Taniyama M, Nakamura, K et al. Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds. J Am Coll Cardiol 2008; 51:1169–75.

  12. Postema PG, Wolpert C, Amin AS, et al. Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm 2009; 6:1335–41.

  13. Makimoto H, Nakagawa E,Takaki H, et al. Augmented ST-segment elevation during recovery from exercise predicts cardiac events in patients with Brugada syndrome. J Am Coll Cardiol 2010; 56:1576–1584.

  14. Nademanee K, Veerakul G, Chandanamattha P, et al.: Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation 2011; 123:1270–9.

  15. Papadakis M, Papatheodorou E, Mellor G, et al. The Diagnostic Yield of Brugada Syndrome After Sudden Death With Normal Autopsy. J Am Coll Cardiol. 2018; 71).

Key references CPVT:

  1. Coumel P, Fidelle J, Lucet V, et al. Catecholamine-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Br Heart J. 1978; 40(Suppl):28–37.

  2. Sy RW, Gollob MH, Klein GJ, et al. Arrhythmia characterization and long term outcomes in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2011; 8:864–71.

  3. Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009; 119:2426–34.

  4. van der Werf C, Kannankeril PJ, Sacher F, et al. Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol. 2011; 57:2244–54.

  5. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002; 106:69–74.

  6. van derWerf C, Zwinderman AH, Wilde AA. Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments. Europace. 2012; 14:175–183.

  7. LerenI S, Saberniak J, Majid E, Haland TF, Edvardsen T, Haugaa KH. Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared with b1-selective b-blockers in patients with catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm J 2016; 13:433–40.

  8. DeFerrari GM, Dusi V, Spazzolini C, Bos JM, Abrams DJ, Berul CI, et al. Clinical management of catecholaminergic polymorphic ventricular tachycardia: the role of left cardiac sympathetic denervation. Circulation 2015; 131:2185– 339.

Key references, Editorials, Reviews and Book Chapters: 

Annual Conferences

  • 13 Dec.  2022   AICC/NICCS Joint National Training Day in Inherited Cardiac Conditions, Glasgow. Register here

  • 12 Dec   2022   National Hybrid AICC Conference 2022. Register here 

  • 01 Dec   2022   British Society of Heart Failure (BSH) 2022 

  • Nov        2022.  Cardiomyopathy UK Conference, London

  • 05 Oct    2022  BCS, BSH & Zurich Heart House Post Graduate Course in Heart Failure (PCHF) 

  • 02 Sept  2022  British Society of Cardiovascular Imaging (BSCI)

  • TBC                   Biennial Cardiovascular Genomics Medicine Conference – Therapeutic CV Genomics

  • TBC                   EACVI, EuroCMR2021

  • Aug         2022  European Society of Cardiology (ESC) Congress 2022

  • SLICC / CLICC / BJCA education

  • TBC  2023       British Cardiac Society

  • TBC  2023       British nuclear society

  • TBC   2023       British Society of Cardiac MRI: CMR and PET in sarcoidosis: 27th March 2019

Additional helpful websites:

Please consult the Regional, National and International guidelines for the diagnosis and treatment of ICCs (https://www.nice.org.uk/ ; https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Acute-and-Chronic-Heart-Failure). 

Further information, useful websites and telephone numbers: