{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T01:32:20Z","timestamp":1793410340717,"version":"4.5.0"},"reference-count":38,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Genomic and Precision Medicine"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND:<\/jats:title>\n                    <jats:p>\n                      Variants in\n                      <jats:italic>RBM20<\/jats:italic>\n                      are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine the risk of adverse events in\n                      <jats:italic>RBM20<\/jats:italic>\n                      variant carriers and the impact of sex on outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>METHODS:<\/jats:title>\n                    <jats:p>\n                      Consecutive probands and relatives carrying\n                      <jats:italic>RBM20<\/jats:italic>\n                      variants were retrospectively recruited from 12 cardiomyopathy units. The primary end point was a composite of malignant ventricular arrhythmia (MVA) and end-stage heart failure (ESHF). MVA and ESHF end points were also analyzed separately and men and women compared. Left ventricular ejection fraction (LVEF) contemporary to MVA was examined.\n                      <jats:italic>RBM20<\/jats:italic>\n                      variant carriers with left ventricular systolic dysfunction (\n                      <jats:italic>RBM20<\/jats:italic>\n                      <jats:sub>LVSD<\/jats:sub>\n                      ) were compared with variant-elusive patients with idiopathic left ventricular systolic dysfunction.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>RESULTS:<\/jats:title>\n                    <jats:p>\n                      Longitudinal follow-up data were available for 143\n                      <jats:italic>RBM20<\/jats:italic>\n                      variant carriers (71 men; median age, 35.5 years); 7 of 143 had an MVA event at baseline. Thirty of 136 without baseline MVA (22.0%) reached the primary end point, and 16 of 136 (11.8%) had new MVA with no significant difference between men and women (log-rank\n                      <jats:italic>P<\/jats:italic>\n                      =0.07 and\n                      <jats:italic>P<\/jats:italic>\n                      =0.98, respectively). Twenty of 143 (14.0%) developed ESHF (17 men and 3 women; log-rank\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001). Four of 10 variant carriers with available LVEF contemporary to MVA had an LVEF &gt;35%. At 5 years, 15 of 67 (22.4%)\n                      <jats:italic>RBM20<\/jats:italic>\n                      <jats:sub>LVSD<\/jats:sub>\n                      versus 7 of 197 (3.6%) patients with idiopathic left ventricular systolic dysfunction had reached the primary end point (log-rank\n                      <jats:italic>P<\/jats:italic>\n                      &lt;0.001).\n                      <jats:italic>RBM20<\/jats:italic>\n                      variant carriage conferred a 6.0-fold increase in risk of the primary end point.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>CONCLUSIONS:<\/jats:title>\n                    <jats:p>\n                      <jats:italic>RBM20<\/jats:italic>\n                      variants are associated with a high risk of MVA and ESHF compared with idiopathic left ventricular systolic dysfunction. The risk of MVA in male and female\n                      <jats:italic>RBM20<\/jats:italic>\n                      variant carriers is similar, but male sex is strongly associated with ESHF.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgen.123.004059","type":"journal-article","created":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T05:00:58Z","timestamp":1692334858000},"page":"434-441","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":37,"title":["Risks of Ventricular Arrhythmia and Heart Failure in Carriers of\n                    <i>RBM20<\/i>\n                    Variants"],"prefix":"10.1161","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6298-922X","authenticated-orcid":true,"given":"Douglas E.","family":"Cannie","sequence":"first","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (D.E.C., A.P., A.B., P.S., M.L., P.M.E.)."},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital, London, United Kingdom (D.E.C., A.P., A.B., M.L., P.M.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8595-7212","authenticated-orcid":true,"given":"Alexandros","family":"Protonotarios","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (D.E.C., A.P., A.B., P.S., M.L., P.M.E.)."},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital, London, United Kingdom (D.E.C., A.P., A.B., M.L., P.M.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athanasios","family":"Bakalakos","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (D.E.C., A.P., A.B., P.S., M.L., P.M.E.)."},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital, London, United Kingdom (D.E.C., A.P., A.B., M.L., P.M.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2363-8758","authenticated-orcid":true,"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (D.E.C., A.P., A.B., P.S., M.L., P.M.E.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1831-7853","authenticated-orcid":true,"given":"Massimiliano","family":"Lorenzini","sequence":"additional","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (D.E.C., A.P., A.B., P.S., M.L., P.M.E.)."},{"name":"Department of Inherited Cardiovascular Diseases, Barts Heart Centre, St Bartholomew\u2019s Hospital, London, United Kingdom (D.E.C., A.P., A.B., M.L., 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