Authors

• Ivan Zeljković — Dubrava University Hospital, Zagreb, Croatia — ORCID: 0000-0002-4550-4056
• Anais Gauthey — Heart Rhythm Management Center, Brussels, Belgium — ORCID: 0000-0003-4912-8753
• Martin Manninger — Division of Cardiology, Department of Internal Medicine, Graz, Austria — ORCID: 0000-0002-0545-4373
• Katarzyna Malaczynska-Rajpold — Cardiology Department, Royal Brompton Hospital, London, United Kingdom — ORCID: 0000-0002-9049-546X
• Federico Migliore — Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Padova, Italy — ORCID: 0000-0001-8574-9421
• Šime Manola — Dubrava University Hospital, Zagreb, Croatia — ORCID: 0000-0001-6444-2674
• Nikola Pavlović — Dubrava University Hospital, Zagreb, Croatia — ORCID: 0000-0001-9187-7681
• Julian Chun — Cardioangiologisches Centrum Bethanien, Agaplesion Bethanien Krankenhaus, Frankfurt, Germany — ORCID: 0000-0002-2355-6015
• Giulio Conte — Division of Cardiology, Cardiocentro Ticino Institute, Ente Ospedaliero Cantonale, Lugano, Switzerland — ORCID: 0000-0003-2248-3456

Keywords

genetic testing, inherited disease, guidelines, clinical practice, adherence

DOI

Full Text

**Introduction:** Genetic testing in the cardiovascular field has advanced significantly in the past years, with expanding indications. (1, 2) The aim of this physician based European Heart Rhythm Association (EHRA) survey was to provide a snapshot on current clinical practice regarding the genetic testing for cardiac diseases across ESC countries. Croatia provided most responses, thus we compared Croatia to all other ESC countries included in the survey. **Methods:** An online 28-item questionnaire was promoted by the Scientific Initiative Committee of EHRA, the European Cardiac Arrhythmia Genetics Focus Group (ECGen) and the Young Electrophysiologists Committee and disseminated through EHRA Research Network and dedicated social media channels. **Results:** There were 357 respondents from 69 countries (48 ESC), out of which 60 from Croatia. The majority were cardiac electrophysiologists working in a University Hospitals. Most respondents, including in Croatia, indicated to have performed < 10 genetic tests in the last year. Half of the respondents sent their samples to the regional or national genetic laboratory; however, Croatia has no genetic laboratory in the country and all samples are sent to the laboratory abroad. The main reason for not providing genetic testing were no availability of the genetic lab/facility (35%) or reimbursement issues (25%), similar to Croatian responses. The most frequent indication for genetic testing was diagnostic purposes (55%). Clinical usage of genetic testing in the diagnostic, prognostic, and therapeutic assessment showed heterogeneity depending on the examined inherited disease, but high adherence to current guidelines. **Conclusion:** The survey highlights a significant heterogeneity of the of genetic testing clinical usage in Croatia compared to different ESC countries, mostly due to the differences in availability of genetic lab/facility and reimbursement issues but shows high adherence to current recommendations regarding the indications.

Literature

1. Specterman MJ, Behr ER. Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death. Heart. 2023;109(6):434–41. https://doi.org/10.1136/heartjnl-2021-320015
2. Conte G, Scherr D, Lenarczyk R, Gandjbachkh E, Boulé S, Spartalis MD, et al. Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey. Europace. 2020;22(12):1904–10. https://doi.org/10.1093/europace/euaa223