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Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics
Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in candidate genes. Although a genetic diagnosis can confirm a clinical diagnosis of hereditary DCM, genetic testing has not been easily...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Society of Cardiology
2017
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449520/ https://www.ncbi.nlm.nih.gov/pubmed/28567076 http://dx.doi.org/10.4070/kcj.2016.0017 |
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author | Park, Hyun-Young |
author_facet | Park, Hyun-Young |
author_sort | Park, Hyun-Young |
collection | PubMed |
description | Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in candidate genes. Although a genetic diagnosis can confirm a clinical diagnosis of hereditary DCM, genetic testing has not been easily accessible due to genetic heterogeneity and complexity. Next-generation sequencing (NGS) technologies have recently been introduced, and genetic testing for multiple genes is currently available and more than 40 different genes have been associated with DCM. In Korea, the government has supported genetic diagnosis for patients with idiopathic DCM. When a targeted gene panel with NGS technology was used, the detection rate was about 40%. MYBPC3, LMNA, and MYH7 were the most frequently identified genes, and the pattern of causative genes was different from previous reports. In the analysis, a significant number of subjects (42.0%) had rare or novel unspecified variants in DCM candidate genes, which should be assessed as potential causative mutations. Developing a more comprehensive test panel with additional DCM genes and whole exome sequencing will improve the detection rate, and allow genetic testing to be an option for patients with idiopathic DCM. However, all genetic variations are not pathogenic mutations, and the majority of reported mutations in DCM are unique to a single family, which makes genetic data interpretation more difficult. Therefore, clinical features and familial history integration are needed to improve clinical decision making. |
format | Online Article Text |
id | pubmed-5449520 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | The Korean Society of Cardiology |
record_format | MEDLINE/PubMed |
spelling | pubmed-54495202017-05-31 Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics Park, Hyun-Young Korean Circ J Review Article Dilated cardiomyopathy (DCM) is the most common cause of heart failure in young adults and up to 50% of idiopathic DCM is thought to be caused by genetic mutations in candidate genes. Although a genetic diagnosis can confirm a clinical diagnosis of hereditary DCM, genetic testing has not been easily accessible due to genetic heterogeneity and complexity. Next-generation sequencing (NGS) technologies have recently been introduced, and genetic testing for multiple genes is currently available and more than 40 different genes have been associated with DCM. In Korea, the government has supported genetic diagnosis for patients with idiopathic DCM. When a targeted gene panel with NGS technology was used, the detection rate was about 40%. MYBPC3, LMNA, and MYH7 were the most frequently identified genes, and the pattern of causative genes was different from previous reports. In the analysis, a significant number of subjects (42.0%) had rare or novel unspecified variants in DCM candidate genes, which should be assessed as potential causative mutations. Developing a more comprehensive test panel with additional DCM genes and whole exome sequencing will improve the detection rate, and allow genetic testing to be an option for patients with idiopathic DCM. However, all genetic variations are not pathogenic mutations, and the majority of reported mutations in DCM are unique to a single family, which makes genetic data interpretation more difficult. Therefore, clinical features and familial history integration are needed to improve clinical decision making. The Korean Society of Cardiology 2017-05 2017-02-21 /pmc/articles/PMC5449520/ /pubmed/28567076 http://dx.doi.org/10.4070/kcj.2016.0017 Text en Copyright © 2017 The Korean Society of Cardiology http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Park, Hyun-Young Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics |
title | Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics |
title_full | Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics |
title_fullStr | Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics |
title_full_unstemmed | Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics |
title_short | Hereditary Dilated Cardiomyopathy: Recent Advances in Genetic Diagnostics |
title_sort | hereditary dilated cardiomyopathy: recent advances in genetic diagnostics |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5449520/ https://www.ncbi.nlm.nih.gov/pubmed/28567076 http://dx.doi.org/10.4070/kcj.2016.0017 |
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