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Role of genetic testing in cardiomyopathies: Α primer for cardiologists
Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies. As novel mutations have been identified, understanding when to consider genetic testing has emerged as an important consideration in the managem...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788175/ https://www.ncbi.nlm.nih.gov/pubmed/35126870 http://dx.doi.org/10.4330/wjc.v14.i1.29 |
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author | Vogiatzi, Georgia Lazaros, George Oikonomou, Evangelos Lazarou, Emilia Vavuranakis, Emmanouil Tousoulis, Dimitris |
author_facet | Vogiatzi, Georgia Lazaros, George Oikonomou, Evangelos Lazarou, Emilia Vavuranakis, Emmanouil Tousoulis, Dimitris |
author_sort | Vogiatzi, Georgia |
collection | PubMed |
description | Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies. As novel mutations have been identified, understanding when to consider genetic testing has emerged as an important consideration in the management of these cases. Specific genetic testing has a paramount importance in the risk stratification of family members, in the prognosis of probands at higher risk of a serious phenotype expression, and finally in the identification of new mutations, all of which are discussed in this review. The indications for each type of cardiomyopathy are described, along with the limitations of genetic testing. Finally, the importance of public sharing of variants in large data sets is emphasized. The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies. |
format | Online Article Text |
id | pubmed-8788175 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Baishideng Publishing Group Inc |
record_format | MEDLINE/PubMed |
spelling | pubmed-87881752022-02-03 Role of genetic testing in cardiomyopathies: Α primer for cardiologists Vogiatzi, Georgia Lazaros, George Oikonomou, Evangelos Lazarou, Emilia Vavuranakis, Emmanouil Tousoulis, Dimitris World J Cardiol Minireviews Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies. As novel mutations have been identified, understanding when to consider genetic testing has emerged as an important consideration in the management of these cases. Specific genetic testing has a paramount importance in the risk stratification of family members, in the prognosis of probands at higher risk of a serious phenotype expression, and finally in the identification of new mutations, all of which are discussed in this review. The indications for each type of cardiomyopathy are described, along with the limitations of genetic testing. Finally, the importance of public sharing of variants in large data sets is emphasized. The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies. Baishideng Publishing Group Inc 2022-01-26 2022-01-26 /pmc/articles/PMC8788175/ /pubmed/35126870 http://dx.doi.org/10.4330/wjc.v14.i1.29 Text en ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/ |
spellingShingle | Minireviews Vogiatzi, Georgia Lazaros, George Oikonomou, Evangelos Lazarou, Emilia Vavuranakis, Emmanouil Tousoulis, Dimitris Role of genetic testing in cardiomyopathies: Α primer for cardiologists |
title | Role of genetic testing in cardiomyopathies: Α primer for cardiologists |
title_full | Role of genetic testing in cardiomyopathies: Α primer for cardiologists |
title_fullStr | Role of genetic testing in cardiomyopathies: Α primer for cardiologists |
title_full_unstemmed | Role of genetic testing in cardiomyopathies: Α primer for cardiologists |
title_short | Role of genetic testing in cardiomyopathies: Α primer for cardiologists |
title_sort | role of genetic testing in cardiomyopathies: α primer for cardiologists |
topic | Minireviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788175/ https://www.ncbi.nlm.nih.gov/pubmed/35126870 http://dx.doi.org/10.4330/wjc.v14.i1.29 |
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