{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T06:17:43Z","timestamp":1788329863916,"version":"build-2803163510"},"reference-count":80,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"17","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:p xml:lang=\"en\">\n                    Cardiac channelopathies are inherited arrhythmias that can lead to sudden cardiac death. Despite Africa's extensive genomic diversity, African and African\u2010descent populations remain underrepresented in genetic research, creating gaps in variant interpretation and clinical care. This scoping review aims to map the extent, range, and nature of genetic research on cardiac channelopathies in these populations and to identify key geographic, thematic, and methodological gaps. Using the Joanna Briggs Institute scoping review methodology and the Population\u2013Concept\u2013Context framework, systematic searches in PubMed, Embase, and Web of Science identified original human studies on cardiac channelopathies with genetic data. Extracted variables included study characteristics, populations, types of channelopathies, and reported genes and variants. Forty\u2010four studies met the inclusion criteria. Most studies originated from the United States and South Africa, while West, Central, and East Africa were largely underrepresented. US Black individuals and South African individuals of continental African or African\u2010descended ancestry (excluding populations of European descent such as Cape Afrikaner people) were the most studied groups, with other continental African groups rarely included. Long QT syndrome was the predominant focus, and\n                    <jats:italic toggle=\"no\">SCN5A<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"no\">KCNQ1<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"no\">KCNH2<\/jats:italic>\n                    were the most frequently analyzed genes. Many of the genetic variants discussed remained of uncertain significance due to limited functional validation and the underrepresentation of African genomes in reference databases. Genetic research on cardiac channelopathies in populations of African ancestry is limited, restricting variant interpretation, counseling, and risk prediction. Broader African inclusion, expanded gene screening, and functional studies are essential to improve diagnostics and promote equity in genomic medicine.\n                  <\/jats:p>","DOI":"10.1161\/jaha.126.050282","type":"journal-article","created":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:42:27Z","timestamp":1787226147000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Research on Cardiac Channelopathies in African and African\u2010Descent Populations: A Scoping Review"],"prefix":"10.1161","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-8385-7734","authenticated-orcid":false,"given":"Choshiman","family":"Taib","sequence":"first","affiliation":[{"name":"University of Bern","place":["Bern, Switzerland"]},{"name":"fh gesundheit, fhg \u2010 Health University of Applied Sciences Tyrol","place":["Innsbruck, Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"El Makhzen","sequence":"additional","affiliation":[{"name":"University of Bern","place":["Bern, Switzerland"]},{"name":"Cluster of Research Excellence Genomics for Health in Africa","place":["Bern, Switzerland"]},{"name":"University of Bern","place":["Bern, Switzerland"]},{"name":"University of Bern","place":["Bern, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0465-5138","authenticated-orcid":false,"given":"Hugues","family":"Abriel","sequence":"additional","affiliation":[{"name":"University of Bern","place":["Bern, Switzerland"]},{"name":"Cluster of Research Excellence Genomics for Health in Africa","place":["Bern, Switzerland"]},{"name":"University of Bern","place":["Bern, Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.4103\/0974-2069.164695"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-01007-6"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181d81636"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccep.2010.10.012"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19030692"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.061"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/circresaha.117.309711"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.3390\/biology6010007"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2009.08.036"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/euac030"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.121.023446"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsa1507092"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/538161a"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.acvd.2014.05.005"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12170-016-0506-5"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2125.2012.04415.x"},{"key":"e_1_3_2_18_2","first-page":"312","article-title":"Race and gender representation of hypertrophic cardiomyopathy or long QT syndrome cases in a south African research setting","volume":"18","author":"Heradien M","year":"2007","unstructured":"Heradien M, Goosen A, Moolman\u2010Smook JC, Brink PA. 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