Atypical manifestation of familial laminopathy with simultaneous damage to the cardiac, muscle and peripheral nervous systems

Nuclear laminates are the main proteins of the nuclear membrane and provide the strength of the nuclear membrane and the interaction of extranuclear structures with the components of the cell nucleus. Despite the large number of studies in this area, there is no consensus on the mechanism underlying the pathogenesis of laminopathies. Mutations in the lamin A/C gene are the cause of the development of several clinical phenotypes, both with isolated involvement of cardiac, muscle, adipose and bone tissues, and with their combination. The most characteristic clinical manifestations of laminopathies are conduction disorders, ventricular and supraventricular rhythm disturbances, as well as systolic myocardial dysfunction. Among patients who underwent heart transplantation, approximately 10% are patients with cardiomyopathies caused by mutations in the lamin A/C gene. Often, the dominant pathology of the cardiovascular system (CVS) can mask the subclinical involvement of other tissues. Although a combination of cardiomyopathy with arrhythmic disorder and skeletal muscle disease is not uncommon, concomitant damage to the peripheral nervous system is not often reported. In this article, we present family cases of laminopathy with various involvement of the cardiac, muscle and peripheral nervous systems among members of the same family.