Lmna mutation in a patient presenting with a-v block treated with pacemaker implantation: The misleading influence of coronary angiography, the importance of remote monitoring during covid-19 lockdown and the key role of clinical suspicion

A 60-year-old male patient with family history of congestive heart failure, but without any previous disease alerted the ambulance due to a lipothymia. The transthoracic echocardiography showed no pathological finding, while the 24-h electrocardiogram Holter monitor recorded frequent episodes of high-grade atrioventricular block and a single and short period of atrial fibrillation (AF). In suspicion of an ischemic aetiology, he underwent coronarography, which indicated an intermediate stenosis (50%) in the left anterior descendent artery. This stenosis was not considered haemodynamically significant, thus it was decided to implant a bicameral pacemaker (PM). After the discharge, he underwent a scintigraphy stress-rest test, during which he presented a sustained ventricular tachycardia that required cardiopulmonary resuscitation manoeuvres. Therefore, the patient underwent a percutaneous transluminal coronary angioplasty of the known coronary stenosis. During the follow-up, the treating cardiologist recommended a cardiac magnetic resonance and the molecular analysis of genes responsible for cardiomyopathies. The former showed a left ventricular ejection fraction of 43% without any areas of late enhancement or myocardial fibrosis. The latter took three months to be validated, during which ambulatory-related activities suddenly stopped due to the Sars-Cov2-related pandemic. Considering the need to supervise the patient during this period of time, it was given to the patient a remote monitoring device. No arrhythmias were detected during that time. The genetic test reported a heterozygous missense mutation in exon 6 of the lamin A/C gene, which is known to be a pathogenic variant. At this point, it was decided to upgrade the PM to an implantable cardioverter defibrillator (ICD) in accordance with current guidelines. In light of the high percentage of pacing and of the concomitant rapid reduction of systolic function after PM implant we opted for a biventricular ICD. Our case testifies: 1) how difficult it is to diagnose cardiolaminopathies, especially in their initial stages, 2) how the occurrence of other more common pathological conditions can be misleading and be the cause of the delay in the diagnostic and therapeutic workup, 3) how useful remote monitoring was, especially during COVID-19-related lockdown, to asses arrhythmic burden in patients with suspected laminopathies, and 4) how sudden cardiac death prediction is troublesome in these subjects.