RT Journal Article SR Electronic T1 Clinical disease presentation and ECG characteristics of LMNA mutation carriers JF Open Heart JO Open Heart FD British Cardiovascular Society SP e000474 DO 10.1136/openhrt-2016-000474 VO 4 IS 1 A1 Laura Ollila A1 Kjell Nikus A1 Miia Holmström A1 Mikko Jalanko A1 Raija Jurkko A1 Maija Kaartinen A1 Juha Koskenvuo A1 Johanna Kuusisto A1 Satu Kärkkäinen A1 Eeva Palojoki A1 Eeva Reissell A1 Päivi Piirilä A1 Tiina Heliö YR 2017 UL http://openheart.bmj.com/content/4/1/e000474.abstract AB Objective Mutations in the LMNA gene encoding lamins A and C of the nuclear lamina are a frequent cause of cardiomyopathy accounting for 5–8% of familial dilated cardiomyopathy (DCM). Our aim was to study disease onset, presentation and progression among LMNA mutation carriers.Methods Clinical follow-up data from 27 LMNA mutation carriers and 78 patients with idiopathic DCM without an LMNA mutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls.Results Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) between LMNA mutation carriers and DCM controls (p=0.5). LMNA mutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57 years, p=0.003). Male LMNA 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 LMNA mutation carriers. ECG signs of septal remodelling were present in 81% of the LMNA 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 LMNA mutation carriers from patients with DCM and healthy controls.Conclusions Male LMNA mutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguish LMNA mutation carriers from healthy controls and patients with DCM without LMNA mutations.