{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T17:00:41Z","timestamp":1792429241281,"version":"4.5.0"},"reference-count":46,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2018,9,18]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African\/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We investigated 50 consecutive asymptomatic black and 50 white athletes 14 to 35 years of age with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology. Subjects underwent exercise testing, 24-hour ambulatory ECG, signal-averaged ECG, cardiac magnetic resonance imaging, and a blood-based analysis of a comprehensive 311-gene panel for cardiomyopathies and ion channel disorders associated with TWI, including hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction, long-QT syndrome, and Brugada syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      In total, 21 athletes (21%) were diagnosed with cardiac disease on the basis of comprehensive clinical investigations. Of these, 8 (38.1%) were gene positive (myosin binding protein C[\n                      <jats:italic>MYBPC3<\/jats:italic>\n                      ], myosin heavy chain 7 [\n                      <jats:italic>MYH7<\/jats:italic>\n                      ], galactosidase alpha [\n                      <jats:italic>GLA<\/jats:italic>\n                      ], and actin alpha, cardiac muscle 1 [\n                      <jats:italic>ACTC1<\/jats:italic>\n                      ] genes) and 13 (61.9%) were gene negative. Of the remaining 79 athletes (79%), 2 (2.5%) were gene positive (transthyretin [\n                      <jats:italic>TTR<\/jats:italic>\n                      ] and sodium voltage-gated channel alpha subunit 5 [\n                      <jats:italic>SCN5A<\/jats:italic>\n                      ] genes) in the absence of a clinical phenotype. The prevalence of newly diagnosed cardiomyopathy was higher in white athletes compared with black athletes (30.0% versus 12%;\n                      <jats:italic>P=0<\/jats:italic>\n                      .027). Hypertrophic cardiomyopathy accounted for 90.5% of all clinical diagnoses. All black athletes and 93.3% of white athletes with a clinical diagnosis of cardiomyopathy or a genetic mutation capable of causing cardiomyopathy exhibited lateral TWI as opposed to isolated anterior or inferior TWI; the genetic yield of diagnoses from lateral TWI was 12.3%.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Up to 10% of athletes with TWI revealed mutations capable of causing cardiac disease. Despite the substantial cost, the positive diagnostic yield from genetic testing was one half that from clinical evaluation (10% versus 21%) and contributed to additional diagnoses in only 2.5% of athletes with TWI in the absence of a clear clinical phenotype, making it of negligible use in routine clinical practice.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circulationaha.118.034208","type":"journal-article","created":{"date-parts":[[2018,5,15]],"date-time":"2018-05-15T05:20:10Z","timestamp":1526361610000},"page":"1184-1194","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":61,"title":["Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion"],"prefix":"10.1161","volume":"138","author":[{"given":"Nabeel","family":"Sheikh","sequence":"first","affiliation":[{"name":"St. George\u2019s University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Papadakis","sequence":"additional","affiliation":[{"name":"St. George\u2019s University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathew","family":"Wilson","sequence":"additional","affiliation":[{"name":"Aspetar, Qatar Orthopaedic and Sports Medicine Hospital, Doha (M.W., C.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneil","family":"Malhotra","sequence":"additional","affiliation":[{"name":"St. George\u2019s University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Adamuz","sequence":"additional","affiliation":[{"name":"Aspetar, Qatar Orthopaedic and Sports Medicine Hospital, Doha (M.W., C.A.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tessa","family":"Homfray","sequence":"additional","affiliation":[{"name":"St. George\u2019s University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Monserrat","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biom\u00e9dica, A Coru\u00f1a, Spain (L.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elijah R.","family":"Behr","sequence":"additional","affiliation":[{"name":"St. George\u2019s University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay","family":"Sharma","sequence":"additional","affiliation":[{"name":"St. George\u2019s University of London, United Kingdom (N.S., M.P., A.M., T.H., E.R.B., S.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa060781"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehp164"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehr140"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.114.011038"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjsports-2012-091874"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.113.006179"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.917211"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.000270"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.04.035"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehi108"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.02.006"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.181423"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehi325"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehp473"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehv591"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2626"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.281053"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.01.015"},{"key":"e_1_3_4_20_2","first-page":"238","article-title":"Signal-averaged electrocardiography: ACC expert consensus document.","volume":"27","author":"Cain ME","year":"1996","unstructured":"Cain, ME, Anderson, JL, Arnsdorf, MF, Mason, JW, Scheinman, MM, Waldo, AL. 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