Laminopathies: should Wenckebach be a cause for concern? A case report

BACKGROUND: LMNA cardiomyopathy is a cause of dilated cardiomyopathy (DCM) characterized by aggressive heart failure, high risk of arrhythmias, and sudden cardiac death. We present a case of a male presenting with an LMNA mutation with an aggressive DCM leading to sudden cardiac death (SCD). CASE SUMMARY: A 42-year-old male presented with the feeling of lethargy and intermittent dizziness. Electrocardiogram demonstrated atrioventricular block in keeping with Mobitz type 1, at a rate of 40 b.p.m. and cardiac monitoring showed non-sustained ventricular tachycardia. Cardiac magnetic resonance imaging showed preserved left ventricular (LV) ejection function (59%) but features suggesting DCM. These included mild LV dilatation with an end diastolic volume (EDV) of 213 mL and late enhancement showing a single mid myocardial focus of high signal over the distal right ventricular insertion point inferiorly and a linear area of high signal over the basal septum. After discussion at the cardiology multi-disciplinary meeting, a pacemaker was implanted so that beta-blockers could be initiated to suppress the ventricular arrhythmias. A laminopathy was suspected and if this was confirmed from genetic testing the plan was to upgrade to an implantable defibrillator. Due to stability, this was decided to be done in an outpatient setting. He unfortunately had an out-of-hospital VF arrest and died. Post-mortem showed subtle cardiomyopathy in keeping with a DCM. Genetic tests results were returned a few months later which confirmed a pathogenic variant in LMNA. DISCUSSION: Because of the complexity of LMNA-related cardiac disease, they should be managed and followed up in centres with special expertise in inherited cardiomyopathy.