Arrhythmic phenotypes of cardiac laminopathies: a case series

This article conveys clinical cases of patients with cardiac laminopathy caused by mutations in the LMNA gene, the early manifestations of which were supraventricular, ventricular tachyarrhythmias and conduction disorders in the absence of myocardial structural changes. Moreover, it is shown the evolution of rhythm and conduction disturbances during the follow-up period, as well as the tendency of mutation carriers in the LMNA gene to develop life-threatening ventricular tachyarrhythmias and conduction disorders with a high risk of sudden cardiac death. Furthermore, herein are provided key recommendations of European and American experts regarding the concept of distinguishing laminopathies for mandatory molecular genetic testing, since carriers of LMNA mutations are associated with a poor prognosis. The data obtained confirm the importance of conducting a molecular genetic study using high-throughput sequencing of genes associated with hereditary rhythm disorders, including the LMNA gene, in the presence of clinical manifestations such as syncope, conduction disorders (atrioventricular block, sinus node dysfunction), supraventricular and ventricular tachyarrhythmias in combination with a family history, notably in the absence of structural heart diseases. Timely molecular genetic testing may facilitate the appropriate treatment including a cardioverter-defibrillator implantation.