{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T05:26:40Z","timestamp":1774330000977,"version":"3.50.1"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,5,13]],"date-time":"2016-05-13T00:00:00Z","timestamp":1463097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Ebstein anomaly of the tricuspid valve (EA) can be associated with left ventricular non\u2010compaction (LVNC), a rare congenital cardiomyopathy. We report a 2 year\u2010old female with EA and severe tricuspid regurgitation, LVNC, pulmonary hypertension, and chronic biventricular systolic heart failure, who died during evaluation for cardiac transplantation. Gene panel testing revealed a heterozygous de novo missense mutation in <jats:italic>TPM1<\/jats:italic>, which encodes the cardiac sarcomeric thin filament protein \u03b1\u2010tropomyosin. The c.475G&gt;A variant results in a p.Asp159Asn substitution, altering a highly conserved residue predicted to be damaging to protein structure and function. <jats:italic>TPM1<\/jats:italic> is the second gene linked to EA with LVNC in humans, implicating overlap in the molecular basis of structural and myopathic heart disease. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37745","type":"journal-article","created":{"date-parts":[[2016,5,13]],"date-time":"2016-05-13T14:29:02Z","timestamp":1463149742000},"page":"2186-2190","source":"Crossref","is-referenced-by-count":29,"title":["Ebstein anomaly, left ventricular non\u2010compaction, and early onset heart failure associated with a de novo \u03b1\u2010tropomyosin gene mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Angela M.","family":"Kelle","sequence":"first","affiliation":[{"name":"Division of Pediatric Cardiology Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. Jared","family":"Bentley","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology Department of Pediatrics San Antonio Military Pediatric Center Fort Sam Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis O.","family":"Rohena","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics San Antonio Military Medical Center Fort Sam Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison K.","family":"Cabalka","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"Olson","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota"},{"name":"Division of Cardiovascular Diseases Department of Internal Medicine Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12155"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.015"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2004.02.013"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.4065\/80.3.361"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31087"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36182"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509269102"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0001362"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2009.07.003"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1586\/14779072.2015.1087849"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34131"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12069"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.115.015839"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jtcvs.2014.08.049"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.903898"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2015.06.017"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33883"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3046"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21302"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(00)00755-5"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmcc.2000.1339"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000100664.10777.B8"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.110.957985"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.05.095"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11897-015-0271-7"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.115.001070"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90054-X"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61282-4"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2012.11.003"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37745","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37745","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T04:07:36Z","timestamp":1696651656000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37745"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,13]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1002\/ajmg.a.37745"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37745","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,13]]}}}