Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes
2021; Wolters Kluwer; Volume: 14; Issue: 2 Linguagem: Inglês
10.1161/circgen.120.003313
ISSN2574-8300
AutoresGiulio Conte, Arthur A.M. Wilde, Elijah R. Behr, Douglas S. Scherr, Radosław Lenarczyk, Estelle Gandjbachkh, Lia Crotti, Geòrgia Sarquella-Brugada, Tatjana Potpara,
Tópico(s)Cardiomyopathy and Myosin Studies
ResumoHomeCirculation: Genomic and Precision MedicineVol. 14, No. 2Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes Free AccessLetterPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessLetterPDF/EPUBImportance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes Giulio Conte, MD, PhD, Arthur Wilde, MD, PhD, Elijah R. Behr, MD, Daniel Scherr, MD, Radoslaw Lenarczyk, MD, Estelle Gandjbachkh, MD, Lia Crotti, MD, Georgia Brugada-Sarquella, MD, PhD and Tatjana Potpara, MD, PhD Giulio ConteGiulio Conte Correspondence to: Giulio Conte, MD, PhD, Istituto Cardiocentro Ticino, Ente Ospedaliero Cantonale, Lugano, Switzerland. Email E-mail Address: [email protected] https://orcid.org/0000-0003-2248-3456 Cardiocentro Ticino Institute, Ente Ospedaliero Cantonale, Lugano, Switzerland (G.C.). Faculty of Biomedical Sciences, USI, Lugano, Switzerland (G.C.). Search for more papers by this author , Arthur WildeArthur Wilde https://orcid.org/0000-0002-0528-0852 ERN GUARDHEART (A.W., E.R.B., E.G., L.C., G.B.-S.). Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Heart Center, the Netherlands (A.W.). Search for more papers by this author , Elijah R. BehrElijah R. Behr https://orcid.org/0000-0002-8731-2853 ERN GUARDHEART (A.W., E.R.B., E.G., L.C., G.B.-S.). Cardiology Clinical Academic Group, St. George’s, University of London & St. George’s University Hospitals NHS Foundation Trust, London, United Kingdom (E.R.B.). Search for more papers by this author , Daniel ScherrDaniel Scherr Division of Cardiology, Medical University of Graz, Austria (D.S.). Search for more papers by this author , Radoslaw LenarczykRadoslaw Lenarczyk https://orcid.org/0000-0002-4680-6734 First Department of Cardiology & Angiology, Silesian Center for Heart Disease, Zabrze, Poland (R.L.). Search for more papers by this author , Estelle GandjbachkhEstelle Gandjbachkh https://orcid.org/0000-0002-4846-5021 ERN GUARDHEART (A.W., E.R.B., E.G., L.C., G.B.-S.). Sorbonne Universités, APHP, Cardiology Inst, ICAN, Pitié-Salpêtrière University Hospital, Paris, France (E.G.). Search for more papers by this author , Lia CrottiLia Crotti https://orcid.org/0000-0001-8739-6527 ERN GUARDHEART (A.W., E.R.B., E.G., L.C., G.B.-S.). Istituto Auxologico Italiano, IRCCS, Cardiomyopathy Unit, Department of Cardiovascular, Neural & Metabolic Sciences, San Luca Hospital, Milan, Italy (L.C.). Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin & Laboratory of Cardiovascular Genetics, Milan, Italy (L.C.). Search for more papers by this author , Georgia Brugada-SarquellaGeorgia Brugada-Sarquella ERN GUARDHEART (A.W., E.R.B., E.G., L.C., G.B.-S.). Cardiovascular Inst, Hospital Clínic Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu University of Barcelona, Spain (G.B.-S.). Search for more papers by this author and Tatjana PotparaTatjana Potpara School of Medicine, University of Belgrade, Belgrade, Serbia. Cardiology Clinic, Clinical Center of Serbia, Belgrade (T.P.). Search for more papers by this author Originally published2 Apr 2021https://doi.org/10.1161/CIRCGEN.120.003313Circulation: Genomic and Precision Medicine. 2021;14:e003313Other version(s) of this articleYou are viewing the most recent version of this article. Previous versions: April 2, 2021: Ahead of Print The inherited arrhythmia syndromes (IAS) are a group of genetic heart diseases predisposing to sudden cardiac arrest.1 Patients with IAS and their family members receive diagnostic and therapeutic management, which is heterogeneous across centers 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 (ie, long QT syndrome, LQTS), is not always performed.2,3The data that support the findings of this study are available from the European Heart Rhythm Association (EHRA) upon reasonable request. Additionally, Institutional Review Board approval was obtained by EHRA.The aim of this 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 and European Reference Network (ERN )Gateway to Uncommon And Rare Diseases of the HEART (GUARD-HEART). A center-based online 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, LQTS, early repolarization syndrome, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. 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 counselors, 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 Centers and ECGen members. Forty-four European centers were included in the analysis: 27 (61%) had a dedicated unit for the management of IAS patients, whereas there was no dedicated unit in the remaining 17 (39%; Table). Out of 27 centers with dedicated units, 10 (37%) managed >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/y) of adults (47% versus 7%, P<0.01) and pediatric patients (87% versus 41%, P=0.03). There were no significant differences between centers 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 centers 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% versus 41%) and substrate ablation procedures (82% versus 53%) for patients with Brugada syndrome.Table. 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 valueNo. of adult patients seen in the last 12 mo <202 (7%)8 (47%) 10010 (37%)0<0.01 No. of centers managing pediatric patients22 (81%)8 (47%)0.02No. of pediatric patients seen in the last 12 mo 1002/22 (9%)01.00Brugada syndrome Pharmacological challenge26/27 (96%)15/17 (88%)0.54 Genetic testing24/27 (89%)9/17 (53%)0.05 Electrophysiology study20/27 (74%)7/17 (41%)0.05 Ventricular arrhythmogenic substrate ablation22/27 (82%)9/17 (53%)0.09 AF ablation18/27 (67%)13/17 (76%)0.73Long QT syndrome Pharmacological challenge4/27 (15%)1/17 (6%)0.63 Genetic testing25/27 (92%)10/17 (59%)0.01Early repolarization syndrome Pharmacological challenge5/27 (18%)0/170.13 Genetic testing12/27 (44%)1/17 (6%)<0.01Catecholaminergic polymorphic VT Pharmacological challenge6/27 (22%)2/17 (12%)0.45 Genetic testing23/27 (85%)5/17 (29%)<0.01Idiopathic VF Pharmacological challenge14/27 (52%)7/17 (41%)0.54 Genetic testing21/27 (78%)3/17 (18%)<0.01AF indicates atrial fibrillation; IAS, inherited arrhythmia syndromes; VT, ventricular tachycardia; and VF ventricular fibrillation.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 Hear Rhythm Society (HRS)/EHRA consensus statement on the state of art of genetic testing and 2013 HRS/EHRA/Asian Pacific Heart Rhyhtm Society (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 counseling, 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.Nonstandard Abbreviations and AcronymsIASinherited arrhythmia syndromesLQTSlong QT syndromeVFventricular fibrillationVTventricular tachycardiaSources of FundingNone.Disclosures G.C. has received a research grant from the Swiss National Science Foundation (SNSF, Ambizione PZ00P3_180055).FootnotesFor Sources of Funding and Disclosures, see page 253.Correspondence to: Giulio Conte, MD, PhD, Istituto Cardiocentro Ticino, Ente Ospedaliero Cantonale, Lugano, Switzerland. Email giulio.[email protected]orgReferences1. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, et al; Document Reviewers; 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; 15:1389–1406. doi: 10.1093/europace/eut272CrossrefMedlineGoogle Scholar2. 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; 8:1308–1339. doi: 10.1016/j.hrthm.2011.05.020CrossrefMedlineGoogle Scholar3. 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. doi: 10.1016/j.hrthm.2020.10.010CrossrefMedlineGoogle Scholar4. 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. doi: 10.1016/j.jacc.2018.01.078CrossrefMedlineGoogle Scholar5. Ingles J, Semsarian C. The value of cardiac genetic testing.Trends Cardiovasc Med. 2014; 24:217–224. doi: 10.1016/j.tcm.2014.05.009CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Remme C, Leclercq C and Behr E (2021) The European Cardiac Arrhythmia Genetics (ECGen) Focus Group, European Heart Journal, 10.1093/eurheartj/ehab698, 43:20, (1891-1894), Online publication date: 21-May-2022. Siskin M, Cerrone M, Shokr M, Aizer A, Barbhaiya C, Dai M, Bernstein S, Holmes D, Knotts R, Park D, Spinelli M, Chinitz L and Jankelson L (2021) ICD shocks and complications in patients with inherited arrhythmia syndromes, IJC Heart & Vasculature, 10.1016/j.ijcha.2021.100908, 37, (100908), Online publication date: 1-Dec-2021. April 2021Vol 14, Issue 2 Advertisement Article InformationMetrics © 2021 American Heart Association, Inc.https://doi.org/10.1161/CIRCGEN.120.003313PMID: 33797288 Originally publishedApril 2, 2021 Keywordslong QT syndromearrhythmia, cardiactachycardiagenetic testingBrugada syndromePDF download Advertisement SubjectsArrhythmiasGeneticsHealth ServicesPrecision MedicineSudden Cardiac Death
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