{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:55:11Z","timestamp":1787018111885,"version":"build-2736575974"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"15","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2025,8,5]]},"abstract":"<jats:sec xml:lang=\"en\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Disease\u2010causative variants in\n                      <jats:italic toggle=\"no\">LMNA<\/jats:italic>\n                      \u2010encoded lamin A\/C cause a genetic cardiomyopathy characterized by atrioventricular block, atrial fibrillation, ventricular arrhythmias, and systolic dysfunction. The influence of\n                      <jats:italic toggle=\"no\">LMNA<\/jats:italic>\n                      variant type\/localization on late gadolinium enhancement (LGE) patterns and clinical outcomes remains unclear.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Retrospective analysis of 822 genotype\u2010positive patients with arrhythmogenic\/dilated cardiomyopathy was used to identify those with disease\u2010causative variants in\n                      <jats:italic toggle=\"no\">LMNA<\/jats:italic>\n                      . Data on LGE distribution and prevalence of advanced heart failure, thromboembolic and sudden cardiac death\/major ventricular arrhythmia events were extracted from the electronic record and analyzed by variant type\/localization.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Among the 72\/116 (62%)\n                      <jats:italic toggle=\"yes\">LMNA<\/jats:italic>\n                      variant\u2010positive patients with cardiac magnetic resonance imaging data, LGE was observed in 40\/72 (56%) cases. Most exhibited a nonischemic, midmyocardial or subepicardial pattern (73%), and 6\/40 (15%) showed a unique \u201cpseudo\u2010infarct\u201d transmural pattern, predominantly affecting the apical segments. All 6 patients with this distinct LGE pattern harbored C\u2010terminal IgD (immunoglobulin\u2010like domain) variants (p.Arg471His or p.Arg541His). In patients with clinically manifest disease (76\/116), those with IgD\u2010localizing variants had a lower prevalence of atrioventricular block (25% versus 72%,\n                      <jats:italic toggle=\"no\">P<\/jats:italic>\n                      =0.002) and atrial fibrillation (50% versus 81%,\n                      <jats:italic toggle=\"no\">P<\/jats:italic>\n                      =0.019) but higher rates of thromboembolic events (42% versus 16%,\n                      <jats:italic toggle=\"no\">P<\/jats:italic>\n                      =0.038). During a median follow\u2010up of 37 months, IgD variant presence independently predicted sudden cardiac death\/major ventricular arrhythmia (hazard ratio, 2.391 [95% CI, 1.046\u20135.464];\n                      <jats:italic toggle=\"no\">P<\/jats:italic>\n                      =0.039).\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                      <jats:italic toggle=\"yes\">LMNA<\/jats:italic>\n                      missense variants localizing to IgD present a distinct apical pseudo\u2010infarct LGE pattern associated with increased risk of ventricular arrhythmias and thromboembolic events but reduced atrioventricular block and atrial fibrillation. Multicenter studies are warranted to develop variant\u2010specific risk\u2010stratification strategies in cardiac laminopathy.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/jaha.124.041230","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T12:12:59Z","timestamp":1753099979000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Variant\u2010Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in\n                    <i>LMNA<\/i>\n                    \u2010Related Cardiomyopathy"],"prefix":"10.1161","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2405-3364","authenticated-orcid":false,"given":"Matteo","family":"Castrichini","sequence":"first","affiliation":[{"name":"Mayo Clinic","place":["Rochester, 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