Human genetics of cardiomyopathies
| Autor: | Vermeer, Alexa M. C., Wilde, Arthur A. M., Christiaans, Imke, Rickert-Sperling, Silke, Kelly, Robert G., Driscoll, D. J. |
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| Přispěvatelé: | Clinical Genetics, Graduate School, Amsterdam Cardiovascular Sciences, Cardiology |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Congenital heart diseases: the broken heart; clinical features, human genetics and molecular pathways, 675-686 STARTPAGE=675;ENDPAGE=686;TITLE=Congenital heart diseases: the broken heart; clinical features, human genetics and molecular pathways Congenital Heart Diseases: The Broken Heart, 675-686 ISSUE=1;STARTPAGE=675;ENDPAGE=686;TITLE=Congenital Heart Diseases Congenital Heart Diseases: The Broken Heart ISBN: 9783709118825 |
| Popis: | 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, 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 counseling even more important and challenging. Reclassification of VUS into benign variants, disease modifiers, or causal mutations will be the main focus of research in coming years. |
| Databáze: | OpenAIRE |
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