{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,11]],"date-time":"2023-11-11T00:24:13Z","timestamp":1699662253496},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:00:00Z","timestamp":1694822400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Echocardiography"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal and bulbar muscular atrophy (SBMA) is a rare X\u2010linked recessive neurodegenerative disorder caused by the excessive expansion of cytosine\u2010adenine\u2010guanine repeat sequences in the androgen receptor gene encoded on the Xq11\u201012 chromosome. SBMA primarily affects adult males and is characterized by weakness and atrophy of the proximal limb muscles, often involving the bulbar muscles. In addition to neuromuscular deficits, nonneuronal symptoms such as hypertension, hyperlipidemia, and liver dysfunction are often observed in patients with SBMA. Previous studies have suggested that SBMA patients have been diagnosed with hypertrophic cardiomyopathy (HCM), while gene detection is lacked. Moreover, according to current reports, SBMA patients can carry Brugada syndrome or HCM respectively, while three kinds of diseases have not been reported to exist in the same patient. Here, we report the first case of a male diagnosed with SBMA combined with HCM and two types of Brugada\u2010pattern electrocardiographic changes, with a heterozygous missense mutation in the <jats:italic>TTN<\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/echo.15690","type":"journal-article","created":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T09:26:14Z","timestamp":1694856374000},"page":"1276-1279","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spinal and bulbar muscular atrophy combined with hypertrophic cardiomyopathy and Brugada\u2010pattern electrocardiographic changes: A case report"],"prefix":"10.1111","volume":"40","author":[{"given":"Tian","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Geriatrics Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haoyu","family":"Weng","sequence":"additional","affiliation":[{"name":"Department of Cardiology Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhui","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Cardiology Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xujun","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianping","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiology Peking University First Hospital  Beijing China"},{"name":"Key Laboratory of Molecular Cardiovascular Sciences of Ministry of Education, Health Science Center Peking University  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,9,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/352077a0"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000434"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2021.12.002"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0002\u20108703(07)80043\u20103"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000152479.54298.51"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl\u20102020\u2010318258"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010022\u201010992\u20105"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010018\u20108790\u20102"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540\u20108167.2006.00743.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41569\u2010020\u20100428\u20102"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(21)01205\u20108"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2016.00021"},{"issue":"11","key":"e_1_2_7_14_1","first-page":"1246","article-title":"A patient with Kennedy\u2010Alter\u2010Sung syndrome showing cardiomyopathy","volume":"35","author":"Hattori T","year":"1995","journal-title":"Rinsho Shinkeigaku"}],"container-title":["Echocardiography"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/echo.15690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T13:10:59Z","timestamp":1699621859000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/echo.15690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,16]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/echo.15690"],"URL":"https:\/\/doi.org\/10.1111\/echo.15690","archive":["Portico"],"relation":{},"ISSN":["0742-2822","1540-8175"],"issn-type":[{"value":"0742-2822","type":"print"},{"value":"1540-8175","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,16]]},"assertion":[{"value":"2023-08-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}