A novel multidisciplinary approach in an LMNA-mutated patient: the importance of considering the overall clinical picture for the early diagnosis

The cardiac involvement of laminopathies is characterized by electrical disturbances and structural abnormalities which are similar to those of more common conditions, such as the ischemic heart disease. This overlap of clinical manifestations makes their diagnosis challenging and can lead to a potentially fatal delay of the treatment. A 60-year-old man, without cardiovascular risk factors, was admitted to the emergency department because of syncope and hypotension. The electrocardiogram showed atrial fibrillation which was promptly pharmacologically cardioverted. In the following months a 24-h electrocardiogram Holter monitoring reported a high-grade atrioventricular block. A coronary angiography was performed in order to rule out the ischemic aetiology which demonstrated only an intermediate stenosis (50%) in the left anterior descending artery. Therefore, a dual-chamber pacemaker was implanted and the patient was discharged with the indication to perform a cardiac scintigraphy. However, during the exertion of the abovementioned exam he presented loss of consciousness due to the onset of sustained ventricular tachycardia, which was successfully treated with cardiopulmonary resuscitation maneuvers. The arrhythmia was considered to be of ischemic origin, thus the patient underwent percutaneous transluminal coronary angioplasty with drug-eluting stent implantation at the known coronary stenosis. At this point, the patient underwent the molecular analysis of 128 genes known to be associated with cardiomyopathies, despite not fully respecting the indications of the Heart Rhythm Society/European Heart Rhythm Association consensus statement. While awaiting the result of the genetic analysis, the patient received a remote monitoring device in order to minimize in-person evaluations during the COVID 19-related lockdown. The molecular analysis tested positive for a pathogenetic mutation of the lamin A/C gene, thus the pacemaker was upgraded to a CRT-defibrillator. This case aims to raise awareness of the cardiological manifestations of laminopathies, which can be dangerously misdiagnosed as other, more common clinical conditions.