{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T08:44:13Z","timestamp":1790671453036,"version":"4.1.0"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>\n              Ebstein anomaly is a rare congenital heart malformation characterized by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. An association between Ebstein anomaly with left ventricular noncompaction (LVNC) and mutations in\n              <jats:italic>MYH7<\/jats:italic>\n              encoding \u03b2-myosin heavy chain has been shown; in this report, we have screened for\n              <jats:italic>MYH7<\/jats:italic>\n              mutations in a cohort of probands with Ebstein anomaly in a large population-based study.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              Mutational analysis in a cohort of 141 unrelated probands with Ebstein anomaly was performed by next-generation sequencing and direct DNA sequencing of\n              <jats:italic>MYH7<\/jats:italic>\n              . Heterozygous mutations were identified in 8 of 141 samples (6%). Seven distinct mutations were found; 5 were novel and 2 were known to cause hypertrophic cardiomyopathy. All mutations except for 1 3-bp deletion were missense mutations; 1 was a de novo change. Mutation-positive probands and family members showed various congenital heart malformations as well as LVNC. Among 8 mutation-positive probands, 6 had LVNC, whereas among 133 mutation-negative probands, none had LVNC. The frequency of\n              <jats:italic>MYH7<\/jats:italic>\n              mutations was significantly different between probands with and without LVNC accompanying Ebstein anomaly (\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001). LVNC segregated with the\n              <jats:italic>MYH7<\/jats:italic>\n              mutation in the pedigrees of 3 of the probands, 1 of which also included another individual with Ebstein anomaly.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              Ebstein anomaly is a congenital heart malformation that is associated with mutations in\n              <jats:italic>MYH7<\/jats:italic>\n              .\n              <jats:italic>MYH7<\/jats:italic>\n              mutations are predominantly found in Ebstein anomaly associated with LVNC and may warrant genetic testing and family evaluation in this subset of patients.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.110.957985","type":"journal-article","created":{"date-parts":[[2010,12,3]],"date-time":"2010-12-03T03:46:09Z","timestamp":1291347969000},"page":"43-50","source":"Crossref","is-referenced-by-count":174,"title":["Mutations in the Sarcomere Gene\n            <i>MYH7<\/i>\n            in Ebstein Anomaly"],"prefix":"10.1161","volume":"4","author":[{"given":"Alex V.","family":"Postma","sequence":"first","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaartje","family":"van Engelen","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"van de Meerakker","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thahira","family":"Rahman","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Probst","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke J.H.","family":"Baars","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Bauer","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Pickardt","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silke R.","family":"Sperling","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Berger","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoon F.M.","family":"Moorman","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara J.M.","family":"Mulder","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludwig","family":"Thierfelder","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Keavney","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Goodship","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Klaassen","sequence":"additional","affiliation":[{"name":"From the Heart Failure Research Center (A.V.P., J.v.d.M., A.F.M.M.), the Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands; the Department of Cardiology (K.v.E., B.J.M.M.) and the Department of Clinical Genetics (K.v.E., M.J.H.B.), Academic Medical Center, Amsterdam, The Netherlands; the Institute of Human Genetics (T.R., B.K., J.G.), Newcastle University, Newcastle, United Kingdom; Max-Delbr\u00fcck-Center for Molecular Medicine (S.P., L.T., S.K.),..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.106.619338"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-6893"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2004.02.013"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.4065\/80.3.361"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420500208"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8154"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0001362"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.174287"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/heart.86.6.666"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm239"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm429"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.746164"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.861955"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.903898"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm302"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI6460"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1159\/000252808"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2004.05.033"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(97)00560-2"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30921"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.320"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(97)00602-4"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.108.767822"},{"key":"e_1_3_4_25_2","volume-title":"Braunwald's Heart Disease, A Textbook of Cardiovascular Medicine","author":"Klaassen S","year":"2008","unstructured":"Klaassen S. Focused review: ventricular noncompaction: an update. In: , Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease, A Textbook of Cardiovascular Medicine. 8th edition, part VIII, chapter 65. Philadelphia: Saunders Elsevier; 2008.","edition":"8"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1526"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-009-9406-5"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.res.0000141429.13560.cb"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200309160"}],"container-title":["Circulation: Cardiovascular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCGENETICS.110.957985","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T01:46:30Z","timestamp":1715564790000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCGENETICS.110.957985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1161\/CIRCGENETICS.110.957985"],"URL":"https:\/\/doi.org\/10.1161\/circgenetics.110.957985","relation":{},"ISSN":["1942-325X","1942-3268"],"issn-type":[{"value":"1942-325X","type":"print"},{"value":"1942-3268","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2]]}}}