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Sudden death in a patient with lamin A/C gene mutation and near normal left ventricular systolic function

Xusto Fernández, Carlos A Dumont, Lorenzo Monserrat

    International Journal of Cardiology
    |April 20, 2007
    PubMed

    Insights

    Lamin A/C gene mutations can cause sudden cardiac death, even without severe heart dysfunction. Early consideration of implantable cardioverter-defibrillators is crucial for affected individuals.

    Area of Science:

    • Cardiology
    • Genetics
    • Molecular Biology

    Background:

    • Familial dilated cardiomyopathy (DCM) is often linked to mutations in the lamin A/C gene.
    • Lamin A/C gene mutations are associated with conduction disorders, atrial fibrillation, heart failure, and sudden cardiac death.

    Observation:

    • A case of an asymptomatic 28-year-old man with an R190W lamin A/C mutation presenting with sudden cardiac death during sleep.
    • The patient exhibited mild left ventricular enlargement, preserved ejection fraction, and no initial conduction system disease on ECG.
    • A notable ECG finding was progressive voltage decrease, potentially indicating disease progression.

    Findings:

    • Sudden cardiac death can occur in individuals with lamin A/C gene mutations prior to significant left ventricular dysfunction.
    • The R190W mutation in the lamin A/C gene was identified in the patient and his mother, who also experienced sudden death.

    Implications:

    • This case highlights the risk of sudden cardiac death in lamin A/C mutation carriers, irrespective of overt cardiac dysfunction.
    • Early implantation of cardioverter-defibrillators should be considered in patients with specific lamin A/C gene mutations to prevent sudden cardiac death.

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