{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:16:11Z","timestamp":1782299771054,"version":"3.54.5"},"reference-count":33,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2011,6]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>Apical hypertrophic cardiomyopathy (HCM) is a unique form of HCM with left ventricular hypertrophy confined to the cardiac apex. The purpose of our study was to report genetic findings in a large series of unrelated patients with apical HCM and compare them with a nonapical HCM cohort.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              Overall, 429 patients with HCM underwent genetic testing. The panel included 8 sarcomere protein genes and 3 other genes\n              <jats:italic>(GLA, PRKAG2,<\/jats:italic>\n              and\n              <jats:italic>LAMP2).<\/jats:italic>\n              Sixty-one patients were diagnosed with apical HCM. A positive genotype was found in 8 patients with apical HCM. The genotype-positive and genotype-negative patients had similar maximal wall thicknesses (17.5\u00b13.5 mm versus 17.6\u00b13.3 mm,\n              <jats:italic>P<\/jats:italic>\n              =0.71) and similar frequency of HCM-related events (2\/8; 25% versus 13\/53; 25%;\n              <jats:italic>P<\/jats:italic>\n              =0.98). Thirteen percent with apical HCM and 40% with nonapical HCM had a positive genotype (\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001) most often involving the\n              <jats:italic>MYBPC3<\/jats:italic>\n              and\n              <jats:italic>MYH7<\/jats:italic>\n              genes.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              In apical HCM, a positive genotype was found less frequently than in nonapical HCM, and it was most often involving\n              <jats:italic>MYBPC3<\/jats:italic>\n              and\n              <jats:italic>MYH7<\/jats:italic>\n              genes. Only 13% of patients with apical HCM were found to be genotype positive, indicating that genome-wide association studies and gene expression profiling are needed for better understanding of the genetic background of the disease. There was no significant genotype-phenotype correlation in our cohort with apical HCM.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.110.958835","type":"journal-article","created":{"date-parts":[[2011,4,22]],"date-time":"2011-04-22T02:37:05Z","timestamp":1303439825000},"page":"288-295","source":"Crossref","is-referenced-by-count":57,"title":["Sarcomere Protein Gene Mutations in Patients With Apical Hypertrophic Cardiomyopathy"],"prefix":"10.1161","volume":"4","author":[{"given":"Christiane","family":"Gruner","sequence":"first","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Care","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Siminovitch","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Moravsky","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. Douglas","family":"Wigle","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Woo","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Rakowski","sequence":"additional","affiliation":[{"name":"From the Division of Cardiology, Peter Munk Cardiac Program, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada (C.G., G.M., D.E.W., A.W., H.R.); and Fred A. Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and University Health Network, Toronto, Ontario, Canada (M.C., K.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.92.4.785"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2007.00965.x"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.4065\/81.4.459"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncpcardio1110"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(03)00941-0"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2003.07.027"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(95)00390-8"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1006\/jmcc.2000.1204"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.547448"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.05.088"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.20.2499"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.6.663"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16358-7"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.108.836478"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/circresaha.109.216291"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.77.2.130"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(01)01778-8"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1253\/circj.CJ-09-0438"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(49)90562-1"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2005.10.005"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000066323.15244.54"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.2459\/01.JCM.0000237908.26377.d6"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.108.821314"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00151.x"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.101.12.1396"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0195-668X(03)00466-4"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381802"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2004.03.077"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199504203321603"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-8932(09)73136-7"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033349"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.06.062"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1161\/hc0402.102990"}],"container-title":["Circulation: Cardiovascular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCGENETICS.110.958835","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T01:12:44Z","timestamp":1715562764000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCGENETICS.110.958835"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1161\/CIRCGENETICS.110.958835"],"URL":"https:\/\/doi.org\/10.1161\/circgenetics.110.958835","relation":{},"ISSN":["1942-325X","1942-3268"],"issn-type":[{"value":"1942-325X","type":"print"},{"value":"1942-3268","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6]]}}}