Family History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists

HomeCirculation: Genomic and Precision MedicineVol. 16, No. 1Family History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists Open AccessLetterPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toOpen AccessLetterPDF/EPUBFamily History of Sudden Cardiac Death in the Young and Inherited Arrhythmia Syndromes: Awareness and Attitudes of General Practitioners and Private Practice Cardiologists Flavia Piciacchia, Angelo Auricchio, Elijah R. Behr, Arthur A.M. Wilde and Giulio Conte Flavia PiciacchiaFlavia Piciacchia https://orcid.org/0000-0002-7125-8207 Division of Cardiology, Cardiocentro Ticino Institute, Lugano, Switzerland (F.P., A.A., G.C.). Search for more papers by this author , Angelo AuricchioAngelo Auricchio https://orcid.org/0000-0003-2116-6993 Division of Cardiology, Cardiocentro Ticino Institute, Lugano, Switzerland (F.P., A.A., G.C.). Faculty of Biomedical Sciences, USI, Lugano, Switzerland (A.A., G.C.). Search for more papers by this author , Elijah R. BehrElijah R. Behr https://orcid.org/0000-0002-8731-2853 ERN GUARDHEART (E.R.B., A.A.M.W.) Cardiology Clinical Academic Group (E.R.B.) St. George’s, University of London and St. George’s University Hospitals NHS Foundation Trust, London, UK (E.R.B.). Search for more papers by this author , Arthur A.M. WildeArthur A.M. Wilde https://orcid.org/0000-0002-0528-0852 ERN GUARDHEART (E.R.B., A.A.M.W.) Department of Cardiology, Amsterdam UMC, University of Amsterdam, Heart Center, The Netherlands (A.A.M.W.). Search for more papers by this author and Giulio ConteGiulio Conte Correspondence to: Giulio Conte, MD, PhD, Cardiocentro Ticino, Lugano, Switzerland. Email E-mail Address: [email protected] https://orcid.org/0000-0003-2248-3456 Division of Cardiology, Cardiocentro Ticino Institute, Lugano, Switzerland (F.P., A.A., G.C.). Faculty of Biomedical Sciences, USI, Lugano, Switzerland (A.A., G.C.). Search for more papers by this author Originally published30 Jan 2023https://doi.org/10.1161/CIRCGEN.122.003913Circulation: Genomic and Precision Medicine. 2023;16Other version(s) of this articleYou are viewing the most recent version of this article. Previous versions: January 30, 2023: Ahead of Print Inherited arrhythmia syndromes (IAS) are a heterogeneous group of genetic heart diseases predisposing to sudden cardiac death.1 Patients with IAS and their families receive diagnostic and therapeutic management, which is heterogeneous across centers and suboptimal with regard to adherence to the current guidelines.2General practitioners (GPs) can be crucial to the identification of subjects with family history of and suspected IAS, for onward referral to specialists for appropriate diagnostic and therapeutic management, and for screening of family members. Nevertheless, awareness and knowledge of genetic diseases among GPs and their confidence in managing these patients need to be improved in different countries.3,4The aim of this statewide survey was to obtain real-life data from GPs and private practice cardiologists (PPCs) and to assess their role in ensuring further investigations for subjects with IAS or family history of sudden cardiac death.After ethics approval (Swiss Ethics 2019-00754), a self-administered questionnaire, consisting of 15 questions, was sent by regular mail in October 2019 to 306 medically qualified GPs and 21 PPCs active in Canton Ticino, Switzerland. National sources with doctors’ addresses and specialties were used. One reminder letter was sent 1 month later and nonrespondents were contacted by telephone. Physicians were asked to report data on patients with IAS followed-up in their practice, and to provide information on the management of subjects with family history of sudden cardiac death in the young ([SCDY], <40 years of age). SCDY was defined as a fatal event at age <40 years in the presence of known cardiac disease, cardiac or vascular anomaly at autopsy, or when a cardiac arrhythmia is the most probable cause.1 Information on the perceived indication for further diagnostic examinations (ie, 12-lead ECG, pharmacological challenges, and genetic testing) and family screening was obtained. The data that support the findings of this study are available upon reasonable request.A total of 106 GPs and 13 PPCs completed the questionnaire (response rate: 35% and 62%, respectively). Results are depicted in Table. While all PPCs reported having seen patients with family history of SCDY, only 40% of GPs declared encountering this condition in their practice. Similarly, out of 106 GPs, 64 (60%) reported no patient with IAS in their practice.Table. Survey ResultsTotal (n=119)GPs (n=106)PPCs (n=13)Male75 (63%)67 (63%)8 (61%)Mean age54±555±852±7Years in practice ≤1023 (19%)21 (20%)2 (16%) 11–2050 (42%)44 (41%)6 (46%) >2046 (39%)41 (39%)5 (38%)Presence of patients with family history of SCD in the young in the practice56 (47%)43 (40%)13 (100%)Presence of patients with IAS in the practice55 (46%)42 (40%)13 (100%)Presence of young patients with premature AF in the practice38 (32%)28 (31%)10 (77%)Referral to dedicated center/specialist72 (60%)63 (59%)9 (69%)Indication for ECG (answer=yes)69 (58%)57 (54%)12 (92%)Indication for pharmacological challenge (answer=yes)33 (28%)21 (20%)12 (92%)Indication for genetic testing (answer=yes)29 (24%)23 (21%)6 (46%)AF indicates atrial fibrillation; GP, general practitioners; IAS, inherited arrhythmia syndromes; PPC, private practice cardiologists; and SCD, sudden cardiac death.In the presence of family history of SCDY or IAS suspicion, 63 GPs (59%) and 9 PPCs (69%) would indicate further investigations and specific consultation in a dedicated center to management of IAS. Specifically, 12-lead ECG and pharmacological challenges would be considered by 54% and 20% of GPs, respectively. Genetic testing is considered valuable by 21% of GPs and 46% of cardiologists. There were 80 patients with IAS reported by 42 GPs. Among IAS, Brugada syndrome was the most commonly managed disease (33 patients, 41.5%), followed by early repolarization syndrome (22, 27.5%), long-QT syndrome (14, 17.5%), idiopathic ventricular fibrillation (10, 12.5%), and catecholaminergic polymorphic tachycardia (1, 1%). Among GPs and PPCs managing these cases (42 GPs and 13 PPCs), only 21% and 46% reported patients diagnosed with IAS as a result of family screening, respectively.To the best of our knowledge, this is the first study assessing GPs’ attitudes in the management of subjects with family history of SCDY and patients with IAS. Taking an adequate family history, ideally involving a 3-generation pedigree, is essential for the appropriate management of a genetic disease.1 In this study, a low proportion of GPs (40%) reported to have seen subjects with a family history of SCDY or suspected IAS in their current practice. Potentially this is due to the lack of awareness of the importance of a family history of SCDY as a red flag leading to the suspicion of an undetected genetic disease in a given family. SCDY is a rare event with a reported incidence of 2 cases per 100 000 persons every year.1 According to the demographic characteristics of the studied region (350 000 inhabitants), up to 7 sudden cardiac death young victims per year can be expected and 7 families may require a specific diagnostic assessment. The referral to a specialist center in genetic cardiac diseases is of paramount importance for proper patients’ diagnostic and therapeutic management.5 The need for further evaluation by a specialist and diagnostic investigations was reported by a similar but suboptimal rate of GPs (59%) and PPCs (69%). Moreover, new IAS diagnoses by family screening were reported only by a minority of GPs (21%) and PPCs (46%), suggesting the lack of systematic diagnostic strategies in the management of first-degree relatives.Brugada syndrome, together with LQTS, is known to be one of the most common IAS; therefore, it is not surprising that GPs reported Brugada syndrome as the most common IAS seen during their practice.1 As far as early repolarization syndrome is concerned, the over-reported rate is possibly due to an inappropriate interpretation of ECG in patients with benign early repolarization.Although the response rate was relatively low, this rate is comparable with similar postal surveys and all appropriate methods were used to increase the response rate.Up to 40% of GPs and 30% of PPCs do not consider further investigations in the presence of family history of SCDY, indicating the need of more awareness activities in the primary care medical community. Moreover, the referral to dedicated centers is suboptimal and should be implemented to ensure a proper management of IAS patients and their families.Article InformationSources of FundingThe study was supported by a grant of the Swiss National Science Foundation (SNSF Ambizione PZ00P3_180055).Disclosures None.FootnotesFor Sources of Funding and Disclosures, see page 93.Correspondence to: Giulio Conte, MD, PhD, Cardiocentro Ticino, Lugano, Switzerland. Email giulio.[email protected]chReferences1. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.Europace. 2013; 15:1389–1406. doi: 10.1093/europace/eut272CrossrefMedlineGoogle Scholar2. Conte G, Scherr D, Lenarczyk R, Gandjbachkh E, Boulé S, Spartalis MD, Behr ER, Wilde A, Potpara T. Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey.Europace. 2020; 22:1904–1910doi: 10.1093/europace/euaa223CrossrefMedlineGoogle Scholar3. Nippert I, Harris HJ, Julian-Reynier C, Kristoffersson U, Ten Kate LP, Anionwu E, Benjamin C, Challen K, Schmidtke J, Nippert RP, et al. Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.J Community Genet. 2011; 2:1–11doi: 10.1007/s12687-010-0030-0CrossrefMedlineGoogle Scholar4. Challen K, Harris H, Kristoffersson U, Nippert I, Schmidtke J, Ten Kate LP, Benjamin C, Anionwu E, Plass AM, Julian-Reynier C, et al. General practitioner management of genetic aspects of a cardiac disease: a scenario-based study to anticipate providers’ practices.J Community Genet. 2010; 1:83–90. doi: 10.1007/s12687-010-0013-1CrossrefMedlineGoogle Scholar5. Conte G, Wilde A, Behr ER, Scherr D, Lenarczyk R, Gandjbachkh E, Crotti L, Brugada-Sarquella G, Potpara T. Importance of dedicated units for the management of patients with inherited arrhythmia syndromes.Circ Genom Precis Med. 2021; 14:e003313. doi: 10.1161/CIRCGEN.120.003313LinkGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetails February 2023Vol 16, Issue 1 Advertisement Article InformationMetrics © 2023 The Authors. Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution Non-Commercial-NoDerivs License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited, the use is noncommercial, and no modifications or adaptations are made.https://doi.org/10.1161/CIRCGEN.122.003913PMID: 36716170 Originally publishedJanuary 30, 2023 Keywordsheart diseasesSwitzerlandprivate practicegeneral practitionerscardiologistsarrhythmiaPDF download Advertisement SubjectsHealth ServicesSudden Cardiac Death