{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T00:43:34Z","timestamp":1770425014756,"version":"3.49.0"},"reference-count":36,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T00:00:00Z","timestamp":1758067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Alnylam and Sanofi"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by left ventricular hypertrophy in the absence of secondary causes. This study aimed to investigate the genetic, clinical, and epidemiological profile of individuals with clinical HCM or a family history of sudden cardiac death (SCD). Methods: A total of 200 participants (58% male, median age 52 years) underwent genetic testing using a 19-gene panel associated with HCM and phenocopies. Variants were classified as pathogenic\/likely pathogenic (P\/LP), variants of uncertain significance (VUS), or negative. Clinical and imaging data were correlated with genetic findings. Results: P\/LP variants were identified in 31% of individuals, while 40.5% carried VUS, and 28.5% tested negative. A positive genotype was more frequent among patients with clinical HCM (37.7%) than among those with only a family history (18.6%, p = 0.006). Sarcomeric mutations represented 77.4% of positive results, while 22.6% involved phenocopy genes, notably TTR (amyloidosis). Positive genotypes were significantly associated with a family history of SCD (68% vs. 46%, p = 0.004) and with greater interventricular septal thickness (17 mm vs. 15 mm, p &lt; 0.001). Conclusions: Septal thickness &gt;17 mm and family history of SCD were strong predictors of positive genetic results. These findings emphasize the importance of genetic screening and counseling in high-risk individuals and highlight the value of integrating genetic testing into clinical practice for diagnosis, risk stratification, and family management.<\/jats:p>","DOI":"10.3390\/genes16091100","type":"journal-article","created":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T11:00:00Z","timestamp":1758106800000},"page":"1100","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9175-2210","authenticated-orcid":false,"given":"Emerson de Santana","family":"Santos","sequence":"first","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"Postgraduate Program in Health Sciences, Federal University of Sergipe (UFS), Aracaju 49060-676, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"},{"name":"University Hospital of Lagarto, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1532-7368","authenticated-orcid":false,"given":"Gabriel da Costa","family":"Kuhn","sequence":"additional","affiliation":[{"name":"Department of Medicine, Tiradentes University, Aracaju 49032-490, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9716-551X","authenticated-orcid":false,"given":"Ant\u00f4nio Guilherme Cunha","family":"de Almeida","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1884-1495","authenticated-orcid":false,"given":"Jo\u00e3o Victor Andrade","family":"Pimentel","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2562-9889","authenticated-orcid":false,"given":"Newton Vital","family":"Figueiredo Neto","sequence":"additional","affiliation":[{"name":"Department of Medicine, Tiradentes University, Aracaju 49032-490, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2018-804X","authenticated-orcid":false,"given":"Larissa Rebeca da Silva","family":"Tavares","sequence":"additional","affiliation":[{"name":"Department of Medicine, Tiradentes University, Aracaju 49032-490, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0914-115X","authenticated-orcid":false,"given":"B\u00e1rbara Let\u00edcia Lima","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Fisheries and Aquaculture Engineering, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3854-9367","authenticated-orcid":false,"given":"Ana Beatriz Leite","family":"Arag\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3123-5333","authenticated-orcid":false,"given":"Beatriz Carolina de Araujo","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7710-6419","authenticated-orcid":false,"given":"Caio da Silva","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9517-289X","authenticated-orcid":false,"given":"Willian Moreira Le\u00e3o e","family":"Silva","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Cardiogenetics Research Group of Sergipe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9314-4331","authenticated-orcid":false,"given":"Enaldo Vieira de","family":"Melo","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5545-4947","authenticated-orcid":false,"given":"Irlaneide da Silva","family":"Tavares","sequence":"additional","affiliation":[{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"},{"name":"Clinic and Hospital S\u00e3o Lucas\/Rede D\u2019Or S\u00e3o Luiz, Aracaju 49060-676, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4158-9726","authenticated-orcid":false,"given":"Ant\u00f4nio Carlos Sobral","family":"Sousa","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"Postgraduate Program in Health Sciences, Federal University of Sergipe (UFS), Aracaju 49060-676, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"},{"name":"Clinic and Hospital S\u00e3o Lucas\/Rede D\u2019Or S\u00e3o Luiz, Aracaju 49060-676, Brazil"},{"name":"Division of Cardiology, University Hospital, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4325-0590","authenticated-orcid":false,"given":"Joselina Luzia Menezes","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Medicine, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"},{"name":"Postgraduate Program in Health Sciences, Federal University of Sergipe (UFS), Aracaju 49060-676, Brazil"},{"name":"University Hospital, Federal University of Sergipe, Aracaju 49100-000, Brazil"},{"name":"Clinic and Hospital S\u00e3o Lucas\/Rede D\u2019Or S\u00e3o Luiz, Aracaju 49060-676, Brazil"},{"name":"Division of Cardiology, University Hospital, Federal University of Sergipe (UFS), Aracaju 49100-000, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/j.jacc.2021.12.002","article-title":"Diagnosis and evaluation of hypertrophic cardiomyopathy: State-of-the-art review of JACC","volume":"79","author":"Maron","year":"2022","journal-title":"J. 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