TY - JOUR T1 - Clinical disease presentation and ECG characteristics of <em>LMNA</em> mutation carriers JF - Open Heart JO - Open Heart DO - 10.1136/openhrt-2016-000474 VL - 4 IS - 1 SP - e000474 AU - Laura Ollila AU - Kjell Nikus AU - Miia Holmström AU - Mikko Jalanko AU - Raija Jurkko AU - Maija Kaartinen AU - Juha Koskenvuo AU - Johanna Kuusisto AU - Satu Kärkkäinen AU - Eeva Palojoki AU - Eeva Reissell AU - Päivi Piirilä AU - Tiina Heliö Y1 - 2017/01/01 UR - http://openheart.bmj.com/content/4/1/e000474.abstract N2 - 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. ER -