Behr, ER

Brugada-Sarquella, G

Conte, G

Crotti, L

Gandjbachkh, E

Lenarczyk, R

Potpara, T

Scherr, D

Wilde, A

PubMed

Conte, Giulio

Wilde, Arthur A.M.

Behr, Elijah R.

Scherr, Daniel

Lenarczyk, Radoslaw

Gandjbachkh, Estelle

Crotti, Lia

Brugada-Sarquella, Georgia

Potpara, Tatjana

NARCIS 

Importance of Dedicated Units for the Management of Patients with Inherited Arrhythmia Syndromes

St George's Online Research Archive

1 The Importance of Dedicated Units for the Management of Patients with Inherited Arrhythmia Syndromes  Running title: Conte et al.; Dedicated units for inherited arrhythmia syndromes  Giulio Conte, MD, PhD1,2, Arthur Wilde, MD, PhD3,4; Elijah R. Behr, MD3,5,  Daniel Scherr, MD6, Radoslaw Lenarczyk, MD7; Estelle Gandjbachkh, MD3,8;  Lia Crotti, MD3, 9; Georgia Brugada-Sarquella, MD, PhD3,10; Tatjana Potpara, MD, PhD11  1Cardiocentro Ticino Institute, Ente Ospedaliero Cantonale, Lugano, Switzerland; 2Faculty of Biomedical Sciences, USI, Lugano, Switzerland; 3ERN GUARDHEART; 4Amsterdam UMC, Univ of Amsterdam, Heart Ctr, Dept of Clinical & Experimental Cardiology, Amsterdam, the Netherlands; 5Cardiology Clinical Academic Group, St. George’s, Univ of London & St. George’s Univ Hospitals NHS Foundation Trust, London, UK ;6Division of Cardiology, Medical Univ of Graz, Austria; 7First Dept of Cardiology & Angiology, Silesian Ctr for Heart Disease, Zabrze, Poland; 8Sorbonne Universités, APHP, Cardiology Inst, ICAN, Pitié-Salpêtrière Univ Hospital, Paris, France; 9Istituto Auxologico Italiano, IRCCS, Cardiomyopathy Unit, Dept of Cardiovascular, Neural & Metabolic Sciences, San Luca Hospital, Milan, Italy; Istituto Auxologico Italiano, IRCCS, Ctr for Cardiac Arrhythmias of Genetic Origin & Laboratory of Cardiovascular Genetics, Milan, Italy; 10Cardiovascular Inst, Hospital Clínic Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu Univ of Barcelona, Spain; 11School of Medicine, Univ of Belgrade, Belgrade, Serbia; Cardiology Clinic, Clinical Ctr of Serbia, Belgrade, Serbia    Correspondence: Giulio Conte MD, PhD Istituto Cardiocentro Ticino Ente Ospedaliero Cantonale  Lugano, Switzerland Tel. +41918053350 E-mail: giulio.conte@cardiocentro.org     Journal Subject Terms: Sudden Cardiac Death; Genetics; Health Services; Arrhythmias   Key words: genetic testing; arrhythmia (heart rhythm disorders); sudden cardiac death; genetics; inherited arrhythmia syndromes  2 Nonstandard Abbreviations and Acronyms IAS inherited arrhythmia syndromes SCA sudden cardiac arrest LQTS long-QT syndrome BrS Brugada syndrome ERS early repolarization syndrome CPVT catecholaminergic polymorphic ventricular tachycardia IVF idiopathic ventricular fibrillation VT ventricular tachycardia VF ventricular fibrillation    The inherited arrhythmia syndromes (IAS) are a group of genetic heart diseases predisposing to sudden cardiac arrest (SCA).1 Patients with IAS and their family members receive diagnostic and therapeutic management, which is heterogeneous across centres and suboptimal with regard to adherence to current guidelines. In particular, genetic testing, which is of utmost importance for its implications in the treatment of some IAS (i.e. long-QT syndrome, LQTS), is not always performed.2, 3 The data that support the findings of this study are available from the European Heart Rhythm Association (EHRA) upon reasonable request.  Additionally, IRB approval was obtained by EHRA. The aim of this European Heart Rhythm Association (EHRA) survey analysis was to evaluate the relationship between the presence of dedicated IAS units, center volume and management of patients with IAS. The EHRA Scientific Initiatives Committee conducted the present survey in collaboration with the European Cardiac Arrhythmia Genetics’ Focus Group 3 (ECGen) and ERN GUARD-Heart. A center-based on-line questionnaire was constructed to collect information about presence of dedicated IAS units, center volume and diagnostic and therapeutic management of patients with the following diseases: Brugada syndrome (BrS), long-QT syndrome (LQTS), early repolarization syndrome (ERS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and idiopathic ventricular fibrillation (IVF). Dedicated IAS unit was defined by the presence at a given Institution of a structured multidisciplinary service, including electrophysiologists specialized in IAS, device specialists, genetic counsellors, and psychiatric support, for the management of patients and their family members who have a confirmed diagnosis or who are seeking an opinion regarding a possible diagnosis of IAS. The link was sent out to the EHRA Research Network Centres and ECGen members. Forty-four European centers were included in the analysis: 27 (61%) had a dedicated unit for the management of IAS patients while there was no dedicated unit in the remaining 17 (39%) (Table 1). Out of 27 centers with dedicated units, 10 (37%) managed more than 100 patients in the previous 12 months, whereas all centers without a dedicated unit had lower volumes. Moreover, centers without a dedicated unit were more likely to have very low volumes (<20 patients/year) of adults (7% vs 47%, p<0.01) and pediatric patients (41% vs. 87%, p: 0.03). There were no significant differences between centres on the use of pharmacological challenges in the diagnostic assessment of IAS. However, centers without a dedicated unit performed less genetic testing for all the different types of IAS, including those where a genetic diagnosis can influence therapeutic choices. Specifically, genetic testing for LQTS was performed in 92% and 59% of centres with and without dedicated units, respectively (p: 0.01). Centers with a dedicated unit were more likely to perform an electrophysiology study with programmed ventricular stimulation for risk stratification (71% vs. 41%) and substrate ablation procedures (82% vs. 53%) for patients with Brugada syndrome. 4 In conclusion, dedicated IAS units frequently combine specialized care for adult and pediatric patients, genetic testing and specific diagnostic and therapeutic procedures more frequently compared to centers with a low volume. However, treatment/outcome superiority of IAS units was not examined in this survey. In the 2011 HRS/EHRA consensus statement on the state of art of genetic testing and 2013 HRS/EHRA/APHRS expert consensus on the diagnosis and management of IAS, genetic testing was recommended for probands with a clinical diagnosis and for all family members of a successfully genotyped proband (Class I recommendation).1, 2 In LQTS, the risk of life-threatening arrhythmic events, which is modulated by the duration of QTc interval and the genetic substrate, is not equal for all patients.4 Specific gene mutations are associated with different arrhythmic risk and potential therapeutic benefits. Therefore, genetic testing in these patients has important prognostic implications due to the interplay between genetic substrate, QTc duration, and arrhythmia risk and impact on the response to pharmacotherapy.4 Patients with LQTS not undergoing genetic testing may therefore not receive an appropriate therapeutic approach. Moreover, genetic testing, including pre- and post- genetic testing counselling, is valuable for identifying variants within genes known to be associated with increased risk for disease features and allows for predictive testing of at-risk family members.2, 3, 5 According to this survey’s results, underuse of genetic testing is more likely to occur in centers without dedicated IAS units. Therefore, we make strong plea for institutions to commit the creation and implementation of dedicated IAS units or, otherwise refer these patients to dedicated centers where they and their families can be seen in a multidisciplinary setting.3 Further efforts to improve patient care in this setting are strongly warranted.  Sources of Funding: None  Disclosures: None 5 References:  1. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace. 2013;15:1389-406.   2. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, Camm AJ, Ellinor PT, Gollob M, Hamilton R, 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;8:1308-39.   3. Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, et al. 2020 APHRS/HRS Expert Consensus Statement on the Investigation of Decedents with Sudden Unexplained Death and Patients with Sudden Cardiac Arrest, and of Their Families. Heart Rhythm. 2021;18:e1-e50..  4. Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, et al. Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome. J Am Coll Cardiol. 2018;71:1663-1671.  5. Ingles J, Semsarian C. The value of cardiac genetic testing. Trends Cardiovasc Med. 2014;24:217-224.   6 Table 1. Patient volume of centers with and without IAS units and the related patients’ management.   Centers with IAS units (N=27) Centers without IAS units (N=17) p-value Number of adult patients seen in the last 12 months <20 20-50 50-100 >100  2 (7%) 7 (26%) 8 (30%) 10 (37%)  8 (47%) 7 (41%) 2 (12%) 0  <0.01 0.33 0.27 <0.01 Number of centres managing pediatric patients  22 (81%) 8 (47%) 0.02 Number of pediatric patients seen in the last 12 months <20 20-50 50-100 >100  9/22 (41%) 6/22 (27%) 5/22 (23%) 2/22 (9%)  7/8 (87.5%) 1/8 (12.5%) 0 0  0.03 0.63 0.28 1.00 Brugada syndrome - Pharmacological challenge - Genetic testing - Electrophysiology study - Ventricular arrhythmogenic substrate ablation - AF ablation   26/27 (96%) 24/27 (89%) 20/27 (74%) 22/27 (82%)  18/27 (67%)  15/17 (88%) 9/17 (53%) 7/17 (41%) 9/17 (53%)  13/17 (76%)  0.54 0.05 0.05 0.09  0.73 Long-QT syndrome - Pharmacological challenge - Genetic testing  4/27 (15%) 25/27 (92%)  1/17 (6%) 10/17 (59%)  0.63 0.01 Early repolarization syndrome - Pharmacological challenge - Genetic testing  5/27 (18%) 12/27 (44%)  0/17 1/17 (6%)  0.13 <0.01 Catecholaminergic polymorphic VT - Pharmacological challenge  - Genetic testing  6/27 (22%) 23/27 (85%)  2/17 (12%) 5/17 (29%)  0.45 <0.01 Idiopathic VF - Pharmacological challenge  - Genetic testing  14/27 (52%) 21/27 (78%)  7/17 (41%) 3/17 (18%)  0.54 <0.01 IAS inherited arrhythmia syndromes; VT ventricular tachycardia; VF ventricular fibrillation 

Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes.

https://openaccess.sgul.ac.uk/id/eprint/113169/6/article%20file.pdf

Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes.

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