Genetic Restrictive Cardiomyopathy: Causes and Consequences—An Integrative Approach |
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| Authors: | Diana Cimiotti Heidi Budde Roua Hassoun Kornelia Jaquet |
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| Affiliation: | 1.Department of Clinical Pharmacology, Ruhr-University Bochum, 44801 Bochum, Germany;2.Experimental and Molecular Cardiology, St. Josef Hospital and BG Bergmannsheil, Clinics of the Ruhr-University Bochum, 44791 Bochum, Germany; (H.B.); (R.H.) |
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| 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. |
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| Keywords: | cardiomyopathy restrictive cardiomyopathy pediatric sarcomere contractile dysfunction calcium aggregation gene expression |
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