Human Genetics of Cardiomyopathies
Over the past few decades, there has been notable progress in knowledge and implication of genetics in cardiomyopathies. Twenty-five years ago we started to recognize the genes; nowadays dozens ‑of genes associated with cardiomyopathies have been describe
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Alexa M.C. Vermeer, Arthur A.M. Wilde, and Imke Christiaans
Contents 59.1 59.2 59.3
Introduction ................................................................................................................... Inheritance Pattern ........................................................................................................ Involved Genes.............................................................................................................. 59.3.1 Hypertrophic Cardiomyopathy 59.3.2 Dilated Cardiomyopathy 59.3.3 Arrhythmogenic Right Ventricular Cardiomyopathy 59.3.4 Noncompaction Cardiomyopathy 59.4 Overlapping Phenotypes ............................................................................................... 59.5 Genetic Testing and Counseling ................................................................................... 59.6 Genetics of Cardiomyopathies in the Future ................................................................ Conclusion ............................................................................................................................... References ................................................................................................................................
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Abstract
Over the past few decades, there has been notable progress in knowledge and implication of genetics in cardiomyopathies. Twenty-five years ago we started to recognize the genes; nowadays dozens -of genes associated with cardiomyopathies have been described. Genes and specific mutations can be unique for a certain cardiomyopathy or have specific phenotypic characteristics, but most genes, A.M.C. Vermeer • I. Christiaans Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands A.A.M. Wilde (*) Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands e-mail: [email protected] © Springer-Verlag Wien 2016 S. Rickert-Sperling et al. (eds.), Congenital Heart Diseases: The Broken Heart: Clinical Features, Human Genetics and Molecular Pathways, DOI 10.1007/978-3-7091-1883-2_59
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especially genes encoding for sarcomeric proteins, are associated with different cardiomyopathy subtypes. The large variability in disease penetrance, in disease symptoms and prognosis, and in some families even in cardiomyopathy subtype makes genetic counseling of great importance. Finding a causal mutation in a patient allows identification of relatives at risk of cardiomyopathy and enables presymptomatic assessment of the risk on sudden cardiac death (SCD). The advent of next-generation sequencing (NGS) techniques like cardiogenetic gene panels with sequencing of dozens of genes in one go does not only improve detection of causal mutations but also increases the chance of variants of unknown significance (VUS). These VUS make genetic counse
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