{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:50:33Z","timestamp":1787028633081,"version":"build-2736575974"},"reference-count":46,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T00:00:00Z","timestamp":1679616000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Erasmus+ grant for medical and doctorate students in Florence"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients.<\/jats:p>","DOI":"10.3390\/jcm12072489","type":"journal-article","created":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T02:18:27Z","timestamp":1679883507000},"page":"2489","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9143-3597","authenticated-orcid":false,"given":"Francesca","family":"Girolami","sequence":"first","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Gozzini","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0713-3909","authenticated-orcid":false,"given":"Eszter Dalma","family":"P\u00e1link\u00e1s","sequence":"additional","affiliation":[{"name":"Doctoral School of Clinical Medicine, University of Szeged, 6720 Szeged, Hungary"},{"name":"Cardiomyopathy Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelaide","family":"Ballerini","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Tomberli","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Baldini","sequence":"additional","affiliation":[{"name":"Cardiomyopathy Unit, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Marchi","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1140-134X","authenticated-orcid":false,"given":"Mattia","family":"Zampieri","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Passantino","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Porcedda","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7256-3916","authenticated-orcid":false,"given":"Giovanni Battista","family":"Calabri","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Bennati","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4697-6303","authenticated-orcid":false,"given":"Gaia","family":"Spaziani","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8739-6527","authenticated-orcid":false,"given":"Lia","family":"Crotti","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Istituto Auxologico Italiano, IRCCS, 20100 Milan, Italy"},{"name":"Department of Medicine and Surgery, University Milano Bicocca, 20126 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Cecchi","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Istituto Auxologico Italiano, IRCCS, 20100 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Favilli","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1751-9266","authenticated-orcid":false,"given":"Iacopo","family":"Olivotto","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"},{"name":"Department of Experimental and Clinical Medicine, University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic 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