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Original research article
Clinical disease presentation and ECG characteristics of LMNA mutation carriers
  1. Laura Ollila1,
  2. Kjell Nikus2,
  3. Miia Holmström3,
  4. Mikko Jalanko1,
  5. Raija Jurkko1,
  6. Maija Kaartinen1,
  7. Juha Koskenvuo4,5,
  8. Johanna Kuusisto6,
  9. Satu Kärkkäinen7,
  10. Eeva Palojoki1,
  11. Eeva Reissell8,
  12. Päivi Piirilä9 and
  13. Tiina Heliö1
  1. 1Heart and Lung Centre, Helsinki University Hospital, Helsinki, Finland
  2. 2Heart Centre, Tampere University Hospital and School of Medicine, University of Tampere, Tampere, Finland
  3. 3Department of Radiology, University of Helsinki and HUS Radiology (Medical Imaging Centre), Helsinki, Finland
  4. 4Blueprint Genetics, Helsinki, Finland
  5. 5Unit of Clinical Physiology and Nuclear Medicine, HUS Medical Imaging Center, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland
  6. 6University of Eastern Finland, Kuopio, Finland
  7. 7Heart Centre, Kuopio University Hospital, Kuopio, Finland
  8. 8National Institute for Health and Welfare, Helsinki, Finland
  9. 9Unit of Clinical Physiology, HUS Medical Imaging Center, University Central Hospital, Helsinki, Finland
  1. Correspondence to Dr Laura Ollila; laurahupa{at}


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.

  • LMNA mutations
  • Lamin A/C
  • septal remodelling

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  • Contributors LO, KN, MH, JuK, PP and TH participated in data collection, data analysis, drafting and revision of the manuscript. MJ, RJ, MK, JoK, SK, EP and ER participated in data collection, drafting and revision of the manuscript.

  • Funding Aarne Koskelo Foundation, Finnish Foundation for Cardiovascular Research, Finnish Medical Foundation, Governmental subsidy (EVO-grants: TYH2014208, TYH2012120, TYH7106, TYH200921, TYH4241, TYH2205), and Ida Montin Foundation.

  • Competing interests None declared.

  • Ethics approval Ethics Committee of the Helsinki University Central Hospital.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.

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