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Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy
  1. S Kärkkäinen1,
  2. E Reissell2,
  3. T Heliö2,
  4. M Kaartinen2,
  5. P Tuomainen1,
  6. L Toivonen2,
  7. J Kuusisto1,
  8. M Kupari2,
  9. M S Nieminen2,
  10. M Laakso1,
  11. K Peuhkurinen1
  1. 1Department of Medicine, University of Kuopio, Kuopio, Finland
  2. 2Department of Medicine, University of Helsinki, Helsinki, Finland
  1. Correspondence to:
    Professor Keijo Peuhkurinen
    Department of Medicine, Kuopio University Hospital, P O Box 1777, 70211 Kuopio, Finland; keijo.peuhkurinen{at}

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Dilated cardiomyopathy (DCM) is a primary myocardial disease characterised by impaired systolic function and dilatation of the left or both ventricles. The aetiology and clinical presentation of DCM are heterogeneous. At least one third of idiopathic DCM cases are familial. Knowledge of the genetics of DCM has progressed considerably in recent years.1

Mutations in the lamin A/C gene seem to be important aetiological factors in familial DCM. So far, several research groups have described about 40 DCM associated mutations in this gene.1–4 Heart disease caused by lamin A/C gene mutations is characterised by conduction system disorders with the need for permanent pacemaker implantation, atrial fibrillation, severe heart failure, and increased risk for sudden cardiac death.4 Patients with mutations in the lamin A/C gene often develop a progressive form of disease leading to heart transplantation or sudden cardiac death.4 Therefore, we decided to investigate a homogeneous group of consecutive Finnish heart transplant recipients with end stage DCM and to search for mutations in the lamin A/C gene.


All surviving Finnish patients who received a heart transplant between 1984 and 1998 were enrolled in the study. Of all 158 surviving patients, 81 had an initial diagnosis of primary DCM. A DNA sample was obtained from 81% (n  =  66) of these 81 patients, who fulfilled the commonly approved diagnostic criteria for DCM (left ventricular ejection fraction < 45% and left ventricular end diastolic diameter > 27 mm/m2) at the time of diagnosis. The diagnosis of idiopathic DCM was confirmed by excluding all specific causes of left ventricular dysfunction. The …

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