{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:07:25Z","timestamp":1784293645825,"version":"3.55.0"},"reference-count":60,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T00:00:00Z","timestamp":1664236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015396","name":"Thailand Center of Excellence for Life Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015396","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Thailand Research Funds"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common referrals in the Inherited Cardiovascular Condition (ICC) Genetics Service. Several issues must be discussed with patients and their families during the genetic consultation session, including the options for genetic testing and cardiovascular surveillance in family members. We developed an ICC registry and performed next-generation-based DNA sequencing for all patients affected by non-syndromic HCM and idiopathic DCM in our joint specialist genetics service. The target gene sequencing panel relied on the Human Phenotype Ontology with 237 genes for HCM (HP:0001639) and 142 genes for DCM (HP:0001644). All subjects were asked to contact their asymptomatic first-degree relatives for genetic counseling regarding their risks and to initiate cardiovascular surveillance and cascade genetic testing. The study was performed from January 1, 2014, to December 31, 2020, and a total of 62 subjects (31-HCM and 31-DCM) were enrolled. The molecular detection frequency was 48.39% (32.26% pathogenic\/likely pathogenic, 16.13% variant of uncertain significance or VUS for HCM, and 25.81% (16.13% pathogenic\/likely pathogenic, 9.68% VUS) for DCM. The most prevalent gene associated with HCM was<jats:italic>MYBPC3<\/jats:italic>. The others identified in this study included<jats:italic>ACTN2<\/jats:italic>,<jats:italic>MYL2<\/jats:italic>,<jats:italic>MYH7<\/jats:italic>,<jats:italic>TNNI3<\/jats:italic>,<jats:italic>TPM1<\/jats:italic>, and<jats:italic>VCL<\/jats:italic>. Among the DCM subjects, variants were detected in two cases with the<jats:italic>TTN<\/jats:italic>nonsense variants, while the others were missense and identified in<jats:italic>MYH7<\/jats:italic>,<jats:italic>DRSP3<\/jats:italic>,<jats:italic>MYBPC3<\/jats:italic>, and<jats:italic>SCN5A<\/jats:italic>. Following the echocardiogram surveillance and cascade genetic testing in the asymptomatic first-degree relatives, the detection rate of new cases was 8.82% and 6.25% in relatives of HCM and DCM subjects, respectively. Additionally, a new pre-symptomatic relative belonging to an HCM family was identified, although the genomic finding in the affected case was absent. Thus, ICC service is promising for the national healthcare system, aiming to prevent morbidity and mortality in asymptomatic family members.<\/jats:p>","DOI":"10.1371\/journal.pone.0267770","type":"journal-article","created":{"date-parts":[[2022,9,27]],"date-time":"2022-09-27T17:35:23Z","timestamp":1664300123000},"page":"e0267770","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service"],"prefix":"10.1371","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7867-3238","authenticated-orcid":true,"given":"Objoon","family":"Trachoo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teerapat","family":"Yingchoncharoen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tawai","family":"Ngernsritrakul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5037-1550","authenticated-orcid":true,"given":"Nareenart","family":"Iemwimangsa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhakbhoom","family":"Panthan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sommon","family":"Klumsathian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sasima","family":"Srisukh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anucha","family":"Mukdadilok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sithakom","family":"Phusanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angkana","family":"Charoenyingwattana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takol","family":"Chareonsirisuthigul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasun","family":"Chantratita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarinee","family":"Tangcharoen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2022,9,27]]},"reference":[{"issue":"6","key":"pone.0267770.ref001","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/s41436-020-0757-x","article-title":"The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease","volume":"22","author":"MS Reuter","year":"2020","journal-title":"Genet Med"},{"issue":"1","key":"pone.0267770.ref002","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.cjca.2015.10.003","article-title":"Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada","volume":"32","author":"TJ Bradley","year":"2016","journal-title":"Can J Cardiol"},{"issue":"10","key":"pone.0267770.ref003","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1038\/nrcardio.2013.108","article-title":"Genetic testing for inherited cardiac disease","volume":"10","author":"AA Wilde","year":"2013","journal-title":"Nat Rev Cardiol"},{"issue":"1","key":"pone.0267770.ref004","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2459\/JCM.0000000000000589","article-title":"Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications","volume":"19","author":"F Girolami","year":"2018","journal-title":"J Cardiovasc Med (Hagerstown)"},{"issue":"6","key":"pone.0267770.ref005","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1097\/MOP.0000000000000544","article-title":"Medical genetic services in a developing country: lesson from Thailand","volume":"29","author":"C. 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