{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T16:11:02Z","timestamp":1775059862318,"version":"3.50.1"},"reference-count":37,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2015,1,5]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Ventricular tachycardia (\n              <jats:styled-content style=\"fixed-case\">VT<\/jats:styled-content>\n              ) is a common manifestation of advanced cardiomyopathies. In a subset of patients with dilated cardiomyopathy, VT is the initial and the cardinal manifestation of the disease. The molecular genetic basis of this subset of dilated cardiomyopathy is largely unknown.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              We identified 10 patients with dilated cardiomyopathy who presented with\n              <jats:styled-content style=\"fixed-case\">VT<\/jats:styled-content>\n              and sequenced 14 common causal genes for cardiomyopathies and arrhythmias. Functional studies included cellular patch clamp, confocal microscopy, and immunoblotting. We identified nonsynonymous variants in 4 patients, including a rare missense p.R397Q mutation in the\n              <jats:italic>\n                <jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>\n                1\n              <\/jats:italic>\n              gene in a 60\u2010year\u2010old man who presented with incessant\n              <jats:styled-content style=\"fixed-case\">VT<\/jats:styled-content>\n              and had mild cardiac dysfunction. The p.R397Q mutation was absent in an ethnically matched control group, affected a conserved amino acid, and was predicted by multiple algorithms to be pathogenic. Co\u2010expression of the mutant\n              <jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>\n              1 with its partner unit\n              <jats:styled-content style=\"fixed-case\">KCNE<\/jats:styled-content>\n              1 was associated with reduced tail current density of slowly activating delayed rectifier K\n              <jats:sup>+<\/jats:sup>\n              current (\n              <jats:styled-content style=\"fixed-case\">IK<\/jats:styled-content>\n              s). The mutation reduced membrane localization of the protein.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Dilated cardiomyopathy with an initial presentation of\n              <jats:styled-content style=\"fixed-case\">VT<\/jats:styled-content>\n              may be a forme fruste of arrhythmogenic cardiomyopathy caused by mutations in genes encoding the ion channels. The findings implicate\n              <jats:italic>\n                <jats:styled-content style=\"fixed-case\">KCNQ<\/jats:styled-content>\n                1\n              <\/jats:italic>\n              as a possible causal gene for arrhythmogenic cardiomyopathy.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.114.001526","type":"journal-article","created":{"date-parts":[[2015,1,24]],"date-time":"2015-01-24T04:14:54Z","timestamp":1422072894000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":26,"title":["Arrhythmogenic Cardiomyopathy in a Patient With a Rare Loss\u2010of\u2010Function\n            <i>KCNQ1<\/i>\n            Mutation"],"prefix":"10.1161","volume":"4","author":[{"given":"Qinmei","family":"Xiong","sequence":"first","affiliation":[{"name":"Cardiovascular Department, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Cao","sequence":"additional","affiliation":[{"name":"The Key Laboratory of Molecular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiongqiong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinyan","family":"Xie","sequence":"additional","affiliation":[{"name":"The Key Laboratory of Molecular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Shen","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Wan","sequence":"additional","affiliation":[{"name":"The Key Laboratory of Molecular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianhua","family":"Yu","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujuan","family":"Yan","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, the Second Affiliated Hospital of Nanchang University, Nanchang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali J.","family":"Marian","sequence":"additional","affiliation":[{"name":"Center for Cardiovascular Genetics at The University of Texas Health Science Center\u2013Houston and Texas Heart Institute, Houston, 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