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The genetic landscape of cardiomyopathies

Item Type:Book Section
Title:The genetic landscape of cardiomyopathies
Creators Name:Gerull, B. and Klaassen, S. and Brodehl, A.
Abstract:Insights into genetic causes of cardiomyopathies have tremendously contributed to the understanding of the molecular basis and pathophysiology of hypertrophic, dilated, arrhythmogenic, restrictive and left ventricular noncompaction cardiomyopathy. More than thousand mutations in approximately 100 genes encoding proteins involved in many different subcellular systems have been identified indicating the diversity of pathways contributing to pathological cardiac remodeling. Moreover, the classical view based on morphology and physiology has been shifted toward genetic and molecular patterns defining the etiology of cardiomyopathies. Today, novel high-throughput genetic technologies provide an opportunity to diagnose individuals based on their genetic findings, sometimes before clinical signs of the disease occur. However, the challenge remains that rapid research developments and the complexity of genetic information are getting introduced into the clinical practice, which requires dedicated guidance in genetic counselling and interpretation of genetic test results for the management of families with inherited cardiomyopathies.
Keywords:Cardiomyopathy, Heart Failure, Sudden Death, Disease Genes, Molecular Genetics, Genetic Diagnosis, Genetic Counselling, Next-Generation Sequencing
Source:Cardiac and Vascular Biology
Series Name:Cardiac and Vascular Biology
Title of Book:Genetic Causes of Cardiac Disease
Page Range:45-91
Date:28 November 2019
Official Publication:https://doi.org/10.1007/978-3-030-27371-2_2

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