Association for Inherited Cardiac Conditions
Resources and Bibliography
Websites
Genomics & genetics educational and reference resources
Genomics England:
https://www.genomicsengland.co.uk/genomic-medicine/understanding-genomics
https://www.genomicseducation.hee.nhs.uk/education/?swoof=1&product_cat=online-courses
www.genomicseducation.hee.nhs.uk/education/online-courses)
UK National genomic test directory: https://www.england.nhs.uk/publication/national-genomic-test-directories/
GeNotes: https://www.genomicseducation.hee.nhs.uk/genotes/
eLearning for healthcare:
https://www.e-lfh.org.uk/programmes/genomics-in-the-nhs/
Includes foundation (pedigrees, patterns of inheritance etc.) and specialist courses
Core learning in Inherited Cardiac Conditions (CLICC) - http://www.slcn.nhs.uk/cardiac-odn/workstreams/icc/icc-education/
NCBI:
Online Mendelian Inheritance in Man: https://www.ncbi.nlm.nih.gov/omim
ClinVar: https://www.ncbi.nlm.nih.gov/clinvar/
ClinGen: https://www.clinicalgenome.org
Uptodate:
https://www.uptodate.com/contents/search
Specialist societies
The ESC Working Group on Myocardial and Pericardial Diseases: https://www.escardio.org/Working-groups/Working-Group-on-Myocardial-and-Pericardial-Diseases. This includes position papers and consensus documents on cardiac amyloidosis, cardiomyopathies and genetic testing.
The Association of Inherited Cardiovascular Conditions: https://www.britishcardiovascularsociety.org/about/affiliates/association-for-inherited-cardiac-conditions-aicc and https://theaicc.org. This includes links to recommended patient management pathways.
Clinical Guidelines
The ECS Guidelines on the Management of Cardiomyopathies: https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Cardiomyopathy-Guidelines
The ECS Guidelines on Hypertrophic Cardiomyopathy: https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Hypertrophic-Cardiomyopathy
The AHA/ACC Guidelines for the Diagnosis and Treatment of Patients with Hypertrophic Cardiomyopathy
The ESC Guidelines on Acute and Chronic Heart Failure: https://academic.oup.com/eurheartj/article/42/36/3599/6358045?login=false
The AHA/ACC/HFSA Guideline for the Management of Heart Failure: https://www.ahajournals.org/doi/10.1161/CIR.0000000000001063
The ECS Guidelines of Ventricular Arrhythmias and Prevention of Sudden Cardiac Death: https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Ventricular-Arrhythmias-and-the-Prevention-of-Sudden-Cardiac-Death
The ESC Guidelines on cardiac pacing and cardiac resynchronisation therapy: https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Cardiac-Pacing-and-Cardiac-Resynchronization-Therapy
ACC/AHA Guidelines for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices: https://www.ahajournals.org/doi/10.1161/01.cir.97.13.1325
Healthcare Professional Medical Education
Annual conference and eLearning Courses - Cardiomyopathy UK Charity: https://www.cardiomyopathy.org/healthcare-professionals
Patient Support Groups
Cardiomyopathy UK https://www.cardiomyopathy.org/
Pumping Marvellous https://www.pumpingmarvellous.org/
British Heart Foundation https://www.bhf.org.uk/
Cardiac Risk in the Young https://www.c-r-y.org.uk/
Other Useful Links
HCM risk calculator: https://www.doc2do.com/hcm/webHCM.html
www.sads.org.uk/drugs_to_avoid
http://www.phgfoundation.org/documents/563_1475064303.pdf
Family history & genetic counselling (click for direct link to ‘ScotGen website for learning how to draw family trees)
‘Life after cardiac arrest’ website provides support and information for those who have experienced an out of hospital cardiac arrest (OHCA), their families and those who have been bereaved by OHCA
HEARTe Education Awareness Resource & Training through E-learning. This e-learning resource is aimed at health and social care staff who may:
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be new to cardiac/heart disease – such as rotational staff or those new in post
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wish to refresh / extend their existing cardiac knowledge and skills
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be community based with a mixed pathology case load including cardiac patients
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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
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
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
Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation. 2011; 124:2181-2184
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
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
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
Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med. 2003; 348(19):1866-74
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
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.
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
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
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
HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes. Heart Rhythm 2013; 10:1932–63
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
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.
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
Amin AS, de Groot EA, Ruijter JM, et al. Exercise-induced ECG changes in Brugada syndrome. Circ Arrhythm Electrophysiol 2009; 2:531–9
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
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
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
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
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
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
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
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
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
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
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
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
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
Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002; 106:69–74
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
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
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
Annual Conferences
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19-20 Sept 2024 British Society of Cardiovascular Imaging (BSCI), Mercure St Paul's Hotel, Sheffield
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16 Nov 2024 Cardiomyopathy UK National Conference, Broadgate Business Centre, London
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11-12 Nov 2024 AICC Annual Conference, St Catharine's College Cambridge
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21-22 Nov 2024 BSH Annual Meeting, QEII Conference Centre, London
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TBA (5th Edition) Zurich Heart House Post Graduate Course in Heart Failure (PCHF)
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TBA (2025) Biennial Cardiovascular Genomics Medicine Conference – Therapeutic CV Genomics
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29 Aug-1 Sept 2025 European Society of Cardiology (ESC) Congress with World Congress of Cardiology, Madrid & Online
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SLICC / CLICC / BJCA Education
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TBA June 2025 British Cardiovascular Society Annual Conference 2025
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2025 Dates British Nuclear Medicine Society
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31 Mar-1 Apr 2025 British Society of Cardiovascular Magnetic Resonance, London 2025
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
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Cardiomyopathy UK: Cardiomyopathy UK is a charity offering support, professional education and information. Website: www.cardiomyopathy.org.
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National Institute for Clinical Evidence (NICE): section on heart failure. www.nice.org.uk
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DVLA: Information about driving requirements and medical conditions. Website: www.dvla.co.uk
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European Society of Cardiology (ESC) Heart Failure Guidelines: https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Acute-and-Chronic-Heart-Failure)
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2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guideline. https://www.ahajournals.org/doi/10.1161/CIR.0000000000001063.
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British Heart Foundation: The British Heart Foundation is the largest independent charity committed to the fight against heart disease. The Heart Helpline telephone number is 0300 330 3311. They can also be emailed on hearthelpline@bhf.org.uk. www.bhf.org.uk/heart-health/how-your-heart-works/know-your-heart.aspx
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Cardiomyopathy UK is a charity offering support and information. Website: www.cardiomyopathy.org.
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Pumping Marvellous: A charity started by a heart failure patient to support others and also the heart failure medical and nursing teams. Offer booklets, advice, videos.
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National Institute for Clinical Evidence (NICE): NICE is an executive non-departmental body of the Department of Health. They publish information for people with heart failure, carers, the public and healthcare professionals. They have a section on heart failure. www.nice.org.uk
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Driving and DVLA guidelines: Information about driving requirements and medical conditions. Website: www.dvla.co.uk and https://www.gov.uk/heart-failure-and-driving
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Travel insurance information: https://www.bhf.org.uk/informationsupport/support/practical- support/travel-insurance or telephone the Heart Helpline on 0300 330 3311. Pumping Marvellous produce an information booklet called ‘Travelling with Heart Failure’. The website address is: https://pumpingmarvellous.org/wp- content/uploads/2014/03/Travelling-with-heart-failure.pdf
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Financial support with health costs: For help with health costs such as NHS prescriptions, NHS dental charges, travel costs to receive NHS treatment under the care of a consultant. You may be able to get help if you are receiving a Government benefit or credit, are pregnant, retired or on a low income. Telephone: 0845 850 1166, website: https://www.nhs.uk/NHSEngland/Healthcosts/Documents/2016/HC1-April-2016.pdf
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Psychological support services: please google your local IAPT Service as these exist throughout the UK. In Oxfordshire, you can self refer to 'Talking Space'. They also provide support for those with long term conditions (such as heart failure), anxiety, depression. Website: www.oxfordhealth.nhs.uk/talkingspaceplus Telephone number: 01865 901222
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Work-related support: Citizens Advice: Website: www.citizensadvice.org.uk
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Macmillan Charity: Support for everyone, specialising in end of life care not only for cancer patients. Website: www.macmillan.org.uk Telephone number: 0808 8080000
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The Samaritans Charity offering support for people ‘round the clock’. Website: www.samaritans.org Telephone number: 116 123
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HealthTalk: Information about various medical conditions from the patient’s perspective. Select the section on heart failure to watch videos from patients discussing their experiences of living with heart failure. Website: http://www.healthtalk.org
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Carers support:
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Carers Oxfordshire: Carers Oxfordshire is a free service which offers information, advice and support to someone aged 18 and over, who is looking after someone aged 18 and over, living in Oxfordshire, who could not manage without this help. Telephone: 0345 050 7666 Website: http://www.carersoxfordshire.org.uk/cms/ carersoxfordshire@oxfordshire.gov.uk
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Reading and West Berkshire Carers Service: Telephone 0118 3247333. Website ask@’berkshirecarershub.orghttp://berkshirecarershub.org/
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Carers Trust Thames (North Bucks and Milton Keynes): Telephone 01908 260444
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Crossroads Care Oxfordshire: Crossroads Care is a registered charity and leading provider of home care services.Telephone number: 01865 260280 Email: care@oxfordshirecrossroads.org.ukWebsite: http://www.oxfordshirecrossroads.org.uk
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Age UK: Support with carers support, advice, exercise, coming home from hospital, dementia, bereavement. Website: www.ageuk.org.uk/oxfordshire Telephone number: 0345 450 1276