CLINICAL AND MORPHOLOGICAL CHARACTERISTICS OF RESTRICTIVE CARDIOMYOPATHY ASSOCIATED WITH MUTATIONS IN THE FILAMIN C GENE
Previously, it was believed that mutations in filamin C are able to cause only skeletal myopathies, cardiac tissues have not been studied. However mutations in FLNC have been recently found that lead to both joint damage to the skeletal and cardiac musculature and to isolated cardiac tissue damage. Moreover, had known that mutations in FLNC are associated with all known types of cardiomyopathies (HCM, DCM, RCM, arrhythmogenic) аt present. The article presents our own clinical observations of an adult and children’s cases of isolated phylaminic RCM based on our institution. The study of this problem will allow us to include the known mutations in the genetic screening panels, which will lead to early diagnosis of cardiomyopathies associated with mutations in FLNC and the ability to prevent rapid disease progression and more later cardiac transplantation in the future.