Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach
Diana Cimiotti, Heidi Budde, Roua Hassoun, Kornélia Jaquet
Abstract
The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM.
Topics & Concepts
SarcomerePhenotypeCardiomyopathyRestrictive cardiomyopathyBiologyHypertrophic cardiomyopathyGeneGeneticsHeart failureBioinformaticsMedicineCardiologyInternal medicineMyocyteCardiomyopathy and Myosin StudiesCardiovascular Effects of ExerciseRNA and protein synthesis mechanisms