{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:38:28Z","timestamp":1787017108665,"version":"build-2736575974"},"reference-count":30,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Open Heart"],"accepted":{"date-parts":[[2016,11,1]]},"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Mutations in the\n                      <jats:italic>LMNA<\/jats:italic>\n                      gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5\u20138% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Clinical follow-up data from 27\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers and 78 patients with idiopathic DCM without an\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) between\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers and DCM controls (p=0.5).\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57\u2005years, p=0.003). Male\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers presented with clinical manifestations roughly a decade earlier than females. In close follow-up non-sustained ventricular tachycardia was detected in 78% of\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers. ECG signs of septal remodelling were present in 81% of the\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers, 21% of the DCM controls and none of the healthy controls giving a high sensitivity and specificity for the standard ECG in distinguishing\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers from patients with DCM and healthy controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Male\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguish\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutation carriers from healthy controls and patients with DCM without\n                      <jats:italic>LMNA<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/openhrt-2016-000474","type":"journal-article","created":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T21:20:22Z","timestamp":1483996822000},"page":"e000474","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":42,"title":["Clinical disease presentation and ECG characteristics of\n                    <i>LMNA<\/i>\n                    mutation carriers"],"prefix":"10.1136","volume":"4","author":[{"given":"Laura","family":"Ollila","sequence":"first","affiliation":[{"name":"Heart and Lung Centre, Helsinki University Hospital, Helsinki, 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