{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:28:33Z","timestamp":1790972913745,"version":"4.1.0"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"20","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2021,11,16]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>\n              Filamin C truncating variants (\n              <jats:italic>FLNCtv<\/jats:italic>\n              ) cause a form of arrhythmogenic cardiomyopathy: the mode of presentation, natural history, and risk stratification of\n              <jats:italic>FLNCtv<\/jats:italic>\n              remain incompletely explored. We aimed to develop a risk profile for refractory heart failure and life-threatening arrhythmias in a multicenter cohort of\n              <jats:italic>FLNCtv<\/jats:italic>\n              carriers.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>\n              <jats:italic>FLNCtv<\/jats:italic>\n              carriers were identified from 10 tertiary care centers for genetic cardiomyopathies. Clinical and outcome data were compiled. Composite outcomes were all-cause mortality\/heart transplantation\/left ventricle assist device (D\/HT\/LVAD), nonarrhythmic death\/HT\/LVAD, and sudden cardiac death\/major ventricular arrhythmias. Previously established cohorts of 46 patients with\n              <jats:italic>LMNA<\/jats:italic>\n              and 60 with\n              <jats:italic>DSP<\/jats:italic>\n              -related arrhythmogenic cardiomyopathies were used for prognostic comparison.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>\n              Eighty-five patients carrying\n              <jats:italic>FLNCtv<\/jats:italic>\n              were included (42\u00b115 years, 53% men, 45% probands). Phenotypes were heterogeneous at presentation: 49% dilated cardiomyopathy, 25% arrhythmogenic left dominant cardiomyopathy, 3% arrhythmogenic right ventricular cardiomyopathy. Left ventricular ejection fraction was &lt;50% in 64% of carriers and 34% had right ventricular fractional area changes (RVFAC=(right ventricular end-diastolic area \u2013 right ventricular end-systolic area)\/right ventricular end-diastolic area) &lt;35%. During follow-up (median time 61 months), 19 (22%) carriers experienced D\/HT\/LVAD, 13 (15%) experienced nonarrhythmic death\/HT\/LVAD, and 23 (27%) experienced sudden cardiac death\/major ventricular arrhythmias. The sudden cardiac death\/major ventricular arrhythmias incidence of\n              <jats:italic>FLNCtv<\/jats:italic>\n              carriers did not significantly differ from\n              <jats:italic>LMNA<\/jats:italic>\n              carriers and\n              <jats:italic>DSP<\/jats:italic>\n              carriers. In\n              <jats:italic>FLNCtv<\/jats:italic>\n              carriers, left ventricular ejection fraction was associated with the risk of D\/HT\/LVAD and nonarrhythmic death\/HT\/LVAD.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>\n              Among patients referred to tertiary referral centers,\n              <jats:italic>FLNCtv<\/jats:italic>\n              arrhythmogenic cardiomyopathy is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circulationaha.121.053521","type":"journal-article","created":{"date-parts":[[2021,9,30]],"date-time":"2021-09-30T09:18:38Z","timestamp":1632993518000},"page":"1600-1611","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":119,"title":["Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants"],"prefix":"10.1161","volume":"144","author":[{"given":"Marta","family":"Gigli","sequence":"first","affiliation":[{"name":"Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4538-6811","authenticated-orcid":true,"given":"Davide","family":"Stolfo","sequence":"additional","affiliation":[{"name":"Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., G.S.)."},{"name":"Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden (D.S.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon L.","family":"Graw","sequence":"additional","affiliation":[{"name":"Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora (S.G., S.N.C., J.J., E.E.S., S.T., M.R.G.T., L.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Merlo","sequence":"additional","affiliation":[{"name":"Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), University of Trieste, Trieste, Italy (M.G., D.S., M.M., M.D.F., A.P., G.D.A., F.B., 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