Clinical disease presentation and ECG characteristics of mutation carriers.

OBJECTIVE

Mutations in the 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 mutation carriers.

METHODS

Clinical follow-up data from 27 mutation carriers and 78 patients with idiopathic DCM without an 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 mutation carriers and DCM controls (p=0.5). mutation carriers presented with atrial fibrillation at a younger age than the DCM controls (47 vs 57 years, p=0.003). Male 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 mutation carriers. ECG signs of septal remodelling were present in 81% of the 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 mutation carriers from patients with DCM and healthy controls.

CONCLUSIONS

Male mutation carriers present clinical manifestations at a younger age than females. ECG septal remodelling appears to distinguish mutation carriers from healthy controls and patients with DCM without mutations.