title: Clinical disease presentation and ECG characteristics ofLMNAmutation carriers.
abstract: Mutations in theLMNAgene 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 amongLMNAmutation carriers.
  
  
  
  Clinical follow-up data from 27LMNAmutation carriers and 78 patients with idiopathic DCM without anLMNAmutation were collected. In addition, ECG data were collected and analysed systematically from 20 healthy controls.
  
  
  
  Kaplan-Meier analysis revealed no difference in event-free survival (death, heart transplant, resuscitation and appropriate implantable cardioverter-defibrillator therapy included as events) betweenLMNAmutation carriers and DCM controls (p=0.5).LMNAmutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57 years, p=0.003). MaleLMNAmutation carriers presented with clinical manifestations roughly a decade earlier than females. In close follow-up non-sustained ventricular tachycardia was detected in 78% ofLMNAmutation carriers. ECG signs of septal remodelling were present in 81% of theLMNAmutation carriers, 21% of the DCM controls and none of the healthy controls giving a high sensitivity and specificity for the standard ECG in distinguishingLMNAmutation carriers from patients with DCM and healthy controls.
  
  
  
  MaleLMNAmutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguishLMNAmutation carriers from healthy controls and patients with DCM withoutLMNAmutations.
authors.affiliation: Heart and Lung Centre, Helsinki University Hospital , Helsinki , Finland.
authors.forename: Laura
authors.initials: L
authors.lastname: Ollila
authors.affiliation: Heart Centre, Tampere University Hospital and School of Medicine, University of Tampere , Tampere , Finland.
authors.forename: Kjell
authors.initials: K
authors.lastname: Nikus
authors.affiliation: Department of Radiology , University of Helsinki and HUS Radiology (Medical Imaging Centre) , Helsinki , Finland.
authors.forename: Miia
authors.initials: M
authors.lastname: Holmström
authors.affiliation: Heart and Lung Centre, Helsinki University Hospital , Helsinki , Finland.
authors.forename: Mikko
authors.initials: M
authors.lastname: Jalanko
authors.affiliation: Heart and Lung Centre, Helsinki University Hospital , Helsinki , Finland.
authors.forename: Raija
authors.initials: R
authors.lastname: Jurkko
authors.affiliation: Heart and Lung Centre, Helsinki University Hospital , Helsinki , Finland.
authors.forename: Maija
authors.initials: M
authors.lastname: Kaartinen
authors.affiliation: Blueprint Genetics, Helsinki, Finland; Unit of Clinical Physiology and Nuclear Medicine, HUS Medical Imaging Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
authors.forename: Juha
authors.initials: J
authors.lastname: Koskenvuo
authors.affiliation: University of Eastern Finland , Kuopio , Finland.
authors.forename: Johanna
authors.initials: J
authors.lastname: Kuusisto
authors.affiliation: Heart Centre, Kuopio University Hospital , Kuopio , Finland.
authors.forename: Satu
authors.initials: S
authors.lastname: Kärkkäinen
authors.affiliation: Heart and Lung Centre, Helsinki University Hospital , Helsinki , Finland.
authors.forename: Eeva
authors.initials: E
authors.lastname: Palojoki
authors.affiliation: National Institute for Health and Welfare , Helsinki , Finland.
authors.forename: Eeva
authors.initials: E
authors.lastname: Reissell
authors.affiliation: Unit of Clinical Physiology , HUS Medical Imaging Center, University Central Hospital , Helsinki , Finland.
authors.forename: Päivi
authors.initials: P
authors.lastname: Piirilä
authors.affiliation: Heart and Lung Centre, Helsinki University Hospital , Helsinki , Finland.
authors.forename: Tiina
authors.initials: T
authors.lastname: Heliö
keywords: LMNA mutations; Lamin A/C; septal remodelling