CLINICAL FEATURES AND DIAGNOSTIC ALGORITHMS OF CARDIOMYOPATHIES WITH RESTRICTIVE PHENOTYPE CAUSED BY CARDIAC TROPONIN I AND DESMIN GENES MUTATIONS

Abstract

The authors are citing the literature data and share their own experiences of observation of two patients with cardiomyopathy associated with restrictive phenotype caused by mutations in defined genes encoding the synthesis of cardiac troponin I and desmin gene. Particular attention of the authors is paid to the importance of family anamnesis, which could allow to suppose hereditary disease character and the diagnostic value of genetic testing. The complex of the correct and timely executed diagnostic algorithm will favour optimization of the therapeutic tactics and possibly extend the life of the patient.Key words: cardiomyopathy, restrictive phenotype, cardiac troponin I desmin, gene mutations, diagnostics, treatment.