Background: Lamin cardiomyopathy is a rare genetic condition associated with mutations in the LMNA gene, often leading to a spectrum of cardiac manifestations including dilated cardiomyopathy, conduction system disease, and arrhythmias. This case report describes the diagnostic journey and management of a 58-year-old woman presenting with syncope and advanced atrioventricular (AV) block, subsequently diagnosed with lamin cardiomyopathy.
Case Presentation: A 48-year-old woman presented to our clinic with a sudden episode of syncope. Initial evaluation revealed complete AV block. A cardiac MRI demonstrated significant dilation of the left ventricle and atria, with a left ventricular ejection fraction (LVEF) of 49 % and late gadolinium enhancement (LGE) basal midseptal intramural raising suspicion for lamin cardiomyopathy. Despite the recommendation for an implantable cardioverter-defibrillator (ICD) due to the high risk of sudden cardiac death, the patient opted for a pacemaker implantation instead.
Follow-Up: Several weeks post-pacemaker implantation, the patient returned with complaints of palpitations. Pacemaker interrogation identified multiple non-sustained ventricular tachycardia (NSVT). Concurrently, genetic testing revealed a novel mutation in the LMNA gene, confirming the diagnosis of lamin cardiomyopathy.
Conclusion: This case underscores the complexity of managing lamin cardiomyopathy, highlighting the importance of early recognition and genetic testing in patients with unexplained syncope and conduction abnormalities. It also illustrates the challenges in patient decision-making regarding ICD implantation, which is critical for preventing sudden cardiac death in this high-risk population even in preserved or mid-range LVEF. Further studies are needed to elucidate the phenotypic spectrum and optimal management strategies for patients with novel LMNA mutations.
