A clinical case of non-compaction cardiomyopathy with concomitant myopathic syndrome and mutations in the LMNA and KCNH2 genes

Abstract

A clinical case of a patient with non-compaction cardiomyopathy, early development of life-threatening arrhythmias and conduction disorders, myopathic syndrome and mutations in the LMNA and KCNH2 genes is presented. The issues of diagnostics based on imaging technologies, complex differential diagnostics of non-compaction cardiomyopathy and dilated cardiomyopathy, as well as the basic principles of treatment are discussed. We also present the main provisions of European and American experts on the concept of isolation of lamina-associated cardiomyopathies for mandatory molecular genetic testing and, if identified, early implantation of ICD for the prevention of SCD.