{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:08Z","timestamp":1753869728817,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Clinical and molecular diagnosis of inherited cardiac conditions is key to find at\u2010risk subjects and avoid preventable deaths. This study aimed to identify genetic variants in a sample of Colombian patients diagnosed with inherited cardiac conditions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation sequencing (Illumina platform) using a 231 gene panel was performed in blood samples of 25 unrelated patients with age disease onset between 9 and 55\u2009years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic testing yield was 52%. Two novel likely pathogenic\/ pathogenic variants were found: a <jats:italic>DSP<\/jats:italic> nonsense variant in a patient with arrhythmogenic cardiomyopathy and a <jats:italic>KCNE1<\/jats:italic> frameshift variant in two patients with long QT syndrome. Younger individuals (&lt;18\u2009years) had the highest genetic testing yield (66.6%) compared to 50% and 20% in young adults and patients over 40\u2009years, respectively. All subjects affected with long QT syndrome with a severe event while exercising had a positive genetic test. They also had four times more loss of consciousness events and, resuscitated sudden cardiac arrest was more representative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study is the first one undertaken in Colombia to evaluate inherited cardiac conditions. It highlights the need to perform mutational analysis to provide adequate genetic counseling and to be able to identify patients at risk of severe events.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2046","type":"journal-article","created":{"date-parts":[[2022,10,7]],"date-time":"2022-10-07T06:38:41Z","timestamp":1665124721000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic variants in Colombian patients with inherited cardiac conditions"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2259-7867","authenticated-orcid":false,"given":"Cynthia","family":"Rucinski","sequence":"first","affiliation":[{"name":"Grupo de Patolog\u00eda Molecular, Facultad de Medicina e Instituto de Gen\u00e9tica Universidad Nacional de Colombia  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz Karime","family":"Yunis","sequence":"additional","affiliation":[{"name":"Grupo de Patolog\u00eda Molecular, Facultad de Medicina e Instituto de Gen\u00e9tica Universidad Nacional de Colombia  Bogot\u00e1 Colombia"},{"name":"Servicios M\u00e9dico Yunis Turbay y Cia, SAS  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Rosas","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Cl\u00ednica Shaio  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Santacruz","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Cl\u00ednica Shaio  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Manuel","family":"Camargo","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Cl\u00ednica Shaio  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Jos\u00e9","family":"Yunis","sequence":"additional","affiliation":[{"name":"Grupo de Patolog\u00eda Molecular, Facultad de Medicina e Instituto de Gen\u00e9tica Universidad Nacional de Colombia  Bogot\u00e1 Colombia"},{"name":"Servicios M\u00e9dico Yunis Turbay y Cia, SAS  Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.119.043132"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euaa014"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41569\u2010019\u20100200\u20107"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291\u2010016\u20100207\u20102"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2017.05.018"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2016.01.007"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacbts.2018.01.003"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2018.11.013"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00414\u2010015\u20101261\u20108"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00414\u2010014\u20101105\u2010y"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2020.102723"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0196078"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehq025"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jce.13410"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehy297"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E13\u201008\u20100444"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.115.003121"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424\u2010018\u20102173\u20105"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.119.043114"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00392\u2010017\u20101155\u20105"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/openhrt\u20102015\u2010000329"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.258"}],"container-title":["Molecular Genetics &amp; 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