{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T19:59:01Z","timestamp":1774987141690,"version":"3.50.1"},"reference-count":32,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T00:00:00Z","timestamp":1635292800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,10,27]],"date-time":"2021-10-27T00:00:00Z","timestamp":1635292800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiology"],"published-print":{"date-parts":[[2022]]},"abstract":"<b><i>Background:<\/i><\/b> Genetic variants associated with cardiomyopathies (CMPs) are prevalent in the general population. In young athletes, CMPs account for roughly a quarter of sudden cardiac death, with further unexplained clustering in specific sports. Consequently, most CMPs form a contraindication for competitive sports. We hypothesized that genetic variants might (paradoxically) improve physical performance early in life while impairing cardiac function later in life. <b><i>Methods:<\/i><\/b> Systematic PubMed search was done to investigate whether genetic variants in genes associated with CMPs could be related to beneficial performance phenotypes. <b><i>Summary:<\/i><\/b> In a limited number of studies (<i>n<\/i> = 6), 2,860 individuals\/subjects with genetic variants were able to outperform those without said variants, as measured by running speed (\u223c38 m\/min in heterozygous [HET] mice, <i>n<\/i> = 6, vs. \u223c32 m\/min in wild type [WT] mice, <i>n<\/i> = 7, <i>p<\/i> = 0.004) and distance (966 \u00b1 169 km HET mice vs. 561 \u00b1 144 km WT mice, <i>p<\/i> = 0.0035, <i>n<\/i> = 10), elite athlete status in endurance athletes (<i>n<\/i> = 1,672, <i>p<\/i> = 1.43 \u00d7 10<sup>\u22128<\/sup>), maximal oxygen uptake in elite athletes (absolute difference not provided, <i>n<\/i> = 32, <i>p<\/i> = 0.005), maximal oxygen uptake in unrelated individuals (<i>n<\/i> = 473, <i>p<\/i> = 0.0025), personal records in highly trained marathon runners (2:26:28 \u00b1 0:06:23 min HET, <i>n<\/i> = 32, vs. 2:28:53 \u00b1 0:05:50 min without polymorphism, <i>n<\/i> = 108, <i>p<\/i> = 0.020), and peripheral muscle force contraction in patients following a cardiac rehabilitation program (absolute values not provided, <i>n<\/i> = 260). <b><i>Key Message:<\/i><\/b> Beneficial effects in genetic variants associated with CMPs could hypothetically play a role in the selection of young athletes, consequently explaining the prevalence of such genetic variants in athletes and the general population. <\/jats:p>","DOI":"10.1159\/000520471","type":"journal-article","created":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T22:01:28Z","timestamp":1643407288000},"page":"90-97","source":"Crossref","is-referenced-by-count":4,"title":["Beneficial Effects of Cardiomyopathy-Associated Genetic Variants on Physical Performance: A Hypothesis-Generating Scoping Review"],"prefix":"10.1159","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3785-4985","authenticated-orcid":false,"given":"Sjoerd M.","family":"Verwijs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yigal M.","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1498-6862","authenticated-orcid":false,"given":"Diederik W.D.","family":"Kuster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanda","family":"van der Velden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline","family":"Limpens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliette C.","family":"van Hattum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia N.","family":"van der Crabben","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald H.","family":"Lekanne Deprez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur A.M.","family":"Wilde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3617-3256","authenticated-orcid":false,"given":"Harald T.","family":"J\u00f8rstad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,10,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsports-2018-099029"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.14797\/mdcj-12-2-76"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.117.309711"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.01.019"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00973.2010"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1086\/377590"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.5604\/20831862.1124568"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11061095"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e3283659087"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9113781"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/clc.23289"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.7326\/M18-0850"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.113.005610"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-014-1570-7"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00595"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/sms.12927"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.01295.2009"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1249\/MSS.0b013e31828983f7"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.02.015"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02142-6"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/s0735-1097(02)02976-5"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1186\/s40064-016-1915-0"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2693"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvw192"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2013.105"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000066323.15244.54"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201190"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1134\/S0006297912130093"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3010134"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3719"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.110.224170"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.01.045"}],"container-title":["Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/520471","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/520471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:29:48Z","timestamp":1745422188000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000520471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,27]]},"references-count":32,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1,28]]},"published-print":{"date-parts":[[2022,2,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000520471","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.16884682","asserted-by":"subject"}]},"ISSN":["0008-6312","1421-9751"],"issn-type":[{"value":"0008-6312","type":"print"},{"value":"1421-9751","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,27]]}}}