{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T07:42:57Z","timestamp":1789544577963,"version":"build-2803163510"},"reference-count":44,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2017,9,22]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Left ventricular noncompaction (\n              <jats:styled-content style=\"fixed-case\">LVNC<\/jats:styled-content>\n              ) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next\u2010generation sequencing and to evaluate genotype\u2013phenotype correlations in\n              <jats:styled-content style=\"fixed-case\">LVNC<\/jats:styled-content>\n              patients.\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              Using next\u2010generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated\n              <jats:styled-content style=\"fixed-case\">LVNC<\/jats:styled-content>\n              patients. We identified 43 pathogenic variants in 16 genes in 39 patients (38%); 28 were novel variants. Sarcomere gene variants accounted for 63%, and variants in genes associated with channelopathies accounted for 12%.\n              <jats:italic>MYH7<\/jats:italic>\n              and\n              <jats:italic>TAZ<\/jats:italic>\n              pathogenic variants were the most common, and rare variant collapsing analysis showed variants in these genes contributed to the risk of\n              <jats:styled-content style=\"fixed-case\">LVNC<\/jats:styled-content>\n              , although patients carrying\n              <jats:italic>MYH7<\/jats:italic>\n              and\n              <jats:italic>TAZ<\/jats:italic>\n              pathogenic variants displayed different phenotypes. Patients with pathogenic variants had early age of onset and more severely decreased left ventricular ejection fractions. Survival analysis showed poorer prognosis in patients with pathogenic variants, especially those with multiple variants: All died before their first birthdays. Adverse events were noted in 17 patients, including 13 deaths, 3 heart transplants, and 1 implantable cardioverter\u2010defibrillator insertion. Congestive heart failure at diagnosis and pathogenic variants were independent risk factors for these adverse events.\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              Next\u2010generation sequencing revealed a wide spectrum of genetic variations and a high incidence of pathogenic variants in\n              <jats:styled-content style=\"fixed-case\">LVNC<\/jats:styled-content>\n              patients. These pathogenic variants were independent risk factors for adverse events. Patients harboring pathogenic variants showed poor prognosis and should be followed closely.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.117.006210","type":"journal-article","created":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T00:10:38Z","timestamp":1504138238000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":54,"title":["A Wide and Specific Spectrum of Genetic Variants and Genotype\u2013Phenotype Correlations Revealed by Next\u2010Generation Sequencing in Patients with Left Ventricular Noncompaction"],"prefix":"10.1161","volume":"6","author":[{"given":"Ce","family":"Wang","sequence":"first","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"},{"name":"Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukiko","family":"Hata","sequence":"additional","affiliation":[{"name":"Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Hirono","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asami","family":"Takasaki","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayaka Watanabe","family":"Ozawa","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideyuki","family":"Nakaoka","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyoshi","family":"Saito","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nariaki","family":"Miyao","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mako","family":"Okabe","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keijiro","family":"Ibuki","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Nishida","sequence":"additional","affiliation":[{"name":"Legal Medicine, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideki","family":"Origasa","sequence":"additional","affiliation":[{"name":"Biostatistics and Clinical Epidemiology, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianyi","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil E.","family":"Bowles","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Cardiology), University of Utah, Salt Lake City, UT"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fukiko","family":"Ichida","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for LVNC Study 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