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<article article-type="abstract" dtd-version="1.0" xml:lang="en" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML">
<front>
<journal-meta>
<journal-id journal-id-type="publisher-id">CC</journal-id>
<journal-id journal-id-type="nlm-ta">Cardiol Croat</journal-id>
<journal-title-group>
<journal-title>Cardiologia Croatica</journal-title>
<abbrev-journal-title abbrev-type="pubmed">Cardiol. Croat.</abbrev-journal-title>
</journal-title-group>
<issn pub-type="ppub">1848-543X</issn>
<issn pub-type="epub">1848-5448</issn>
<publisher><publisher-name>Croatian Cardiac Society</publisher-name></publisher>
</journal-meta>
<article-meta>
<article-id pub-id-type="publisher-id">CC 2024 19_11-12_531</article-id>
<article-id pub-id-type="doi">10.15836/ccar2024.531</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Extended Abstract</subject></subj-group>
<subj-group subj-group-type="subheading"><subject>Registries and observational surveys</subject></subj-group>
</article-categories>
<title-group>
<article-title>Current state of genetic testing for cardiac diseases in Croatia in comparison to ESC countries: an EHRA physician-based survey results</article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4550-4056</contrib-id><name><surname>Zeljkovi&#x0107;</surname><given-names>Ivan</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1">*</xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4912-8753</contrib-id><name><surname>Gauthey</surname><given-names>Anais</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0545-4373</contrib-id><name><surname>Manninger</surname><given-names>Martin</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9049-546X</contrib-id><name><surname>Malaczynska-Rajpold</surname><given-names>Katarzyna</given-names></name><xref ref-type="aff" rid="aff4"><sup>4</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8574-9421</contrib-id><name><surname>Migliore</surname><given-names>Federico</given-names></name><xref ref-type="aff" rid="aff5"><sup>5</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6444-2674</contrib-id><name><surname>Manola</surname><given-names>&#x0160;ime</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9187-7681</contrib-id><name><surname>Pavlovi&#x0107;</surname><given-names>Nikola</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2355-6015</contrib-id><name><surname>Chun</surname><given-names>Julian</given-names></name><xref ref-type="aff" rid="aff6"><sup>6</sup></xref></contrib>
<contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2248-3456</contrib-id><name><surname>Conte</surname><given-names>Giulio</given-names></name><xref ref-type="aff" rid="aff7"><sup>7</sup></xref></contrib>
<aff id="aff1"><label>1</label><institution>Dubrava University Hospital</institution>, <addr-line>Zagreb</addr-line>, <country country="hr">Croatia</country></aff>
<aff id="aff2"><label>2</label><institution content-type="dept">Heart Rhythm Management Center</institution>, <institution>Universitair Ziekenhuis Brussel-Vrije Universiteit</institution>, <addr-line>Brussels</addr-line>, <country country="be">Belgium</country></aff>
<aff id="aff3"><label>3</label><institution content-type="dept">Division of Cardiology, Department of Internal Medicine</institution>, <institution>Medical University of Graz</institution>, <addr-line>Graz</addr-line>, <country country="at">Austria</country></aff>
<aff id="aff4"><label>4</label><institution content-type="dept">Cardiology Department, Royal Brompton Hospital</institution>, <institution>Guy&#x2019;s and St Thomas NHS Foundation Trust</institution>, <addr-line>London</addr-line>, <country country="gb">United Kingdom</country></aff>
<aff id="aff5"><label>5</label><institution content-type="dept">Department of Cardiac, Thoracic, Vascular Sciences and Public Health</institution>, <institution>University of Padova</institution>, <addr-line>Padova</addr-line>, <country country="it">Italy</country></aff>
<aff id="aff6"><label>6</label><institution>Cardioangiologisches Centrum Bethanien, Agaplesion Bethanien Krankenhaus</institution>, <addr-line>Frankfurt</addr-line>, <country country="de">Germany</country></aff>
<aff id="aff7"><label>7</label><institution>Division of Cardiology, Cardiocentro Ticino Institute, Ente Ospedaliero Cantonale</institution>, <addr-line>Lugano</addr-line>, <country country="ch">Switzerland</country></aff>
</contrib-group>
<author-notes>
<corresp id="cor1"><label>*</label>ADDRESS FOR CORRESPONDENCE: Ivan Zeljkovi&#x0107;, Klini&#x010D;ka bolnica Dubrava Avenija Gojka &#x0160;u&#x0161;ka 6, HR-10000 Zagreb, Croatia. / Phone: +385-91-7823-289 / E-mail: <email xlink:href="ivanzeljkov@gmail.com">ivanzeljkov@gmail.com</email></corresp></author-notes>
<pub-date date-type="pub" publication-format="electronic"><month>11</month><year>2024</year></pub-date>
<pub-date date-type="pub" publication-format="print"><month>11</month><year>2024</year></pub-date>
<volume>19</volume>
<issue>11-12</issue>
<fpage>531</fpage>
<lpage>531</lpage>
<history>
<date date-type="received"><day>10</day><month>10</month><year>2024</year></date>
<date><day>31</day><month>10</month><year>2024</year></date>
</history>
<permissions>
<copyright-statement>Croatian Cardiac Society</copyright-statement>
<copyright-year>2024</copyright-year>
<copyright-holder>Croatian Cardiac Society</copyright-holder>
</permissions>
<kwd-group kwd-group-type="author"><title>KEYWORDS: </title><kwd>genetic testing</kwd><kwd>inherited disease</kwd><kwd>guidelines</kwd><kwd>clinical practice</kwd><kwd>adherence</kwd></kwd-group>
</article-meta>
</front>
<body>
<p><bold>Introduction:</bold> Genetic testing in the cardiovascular field has advanced significantly in the past years, with expanding indications. (<xref ref-type="bibr" rid="r1"><italic>1</italic></xref>, <xref ref-type="bibr" rid="r2"><italic>2</italic></xref>) 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.</p>
<p><bold>Methods:</bold> 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.</p>
<p><bold>Results:</bold> 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 &lt; 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.</p>
<p><bold>Conclusion:</bold> 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.</p>
</body>
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