Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification
The evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is defined by a particular electrocardiogram (ECG) pattern, after ruling out certain possible causes, this disease has come t...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2021-04-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2021.652027/full |
| _version_ | 1818454535850426368 |
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| author | Michelle M. Monasky Emanuele Micaglio Emanuela T. Locati Carlo Pappone Carlo Pappone |
| author_facet | Michelle M. Monasky Emanuele Micaglio Emanuela T. Locati Carlo Pappone Carlo Pappone |
| author_sort | Michelle M. Monasky |
| collection | DOAJ |
| description | The evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is defined by a particular electrocardiogram (ECG) pattern, after ruling out certain possible causes, this disease has come to be defined more for what it is not than for what it is. Extensive research is required to understand the effects of specific individual variants, including modifiers, rather than necessarily grouping together, for example, “all SCN5A variants” when trying to determine genotype-phenotype relationships, because not all variants within a particular gene act similarly. Genetic testing, including whole exome or whole genome testing, and family segregation analysis should always be performed when possible, as this is necessary to advance our understanding of the genetics of this condition. All considered, BrS should no longer be considered a pure autosomal dominant disorder, but an oligogenic condition. Less common patterns of inheritance, such as recessive, X–linked, or mitochondrial may exist. Genetic testing, in our opinion, should not be used for diagnostic purposes. However, variants in SCN5A can have a prognostic value. Patients should be diagnosed and treated per the current guidelines, after an arrhythmologic examination, based on the presence of the specific BrS ECG pattern. The genotype characterization should come in a second stage, particularly in order to guide the familial diagnostic work-up. In families in which an SCN5A pathogenic variant is found, genetic testing could possibly contribute to the prognostic risk stratification. |
| first_indexed | 2024-12-14T21:56:26Z |
| format | Article |
| id | doaj.art-0870572e4ef04da79ac336d12b95d86f |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-12-14T21:56:26Z |
| publishDate | 2021-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-0870572e4ef04da79ac336d12b95d86f2022-12-21T22:46:07ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2021-04-01810.3389/fcvm.2021.652027652027Evaluating the Use of Genetics in Brugada Syndrome Risk StratificationMichelle M. Monasky0Emanuele Micaglio1Emanuela T. Locati2Carlo Pappone3Carlo Pappone4Arrhythmology Department, IRCCS Policlinico San Donato, Milan, ItalyArrhythmology Department, IRCCS Policlinico San Donato, Milan, ItalyArrhythmology Department, IRCCS Policlinico San Donato, Milan, ItalyArrhythmology Department, IRCCS Policlinico San Donato, Milan, ItalyVita-Salute San Raffaele University, Milan, ItalyThe evolution of the current dogma surrounding Brugada syndrome (BrS) has led to a significant debate about the real usefulness of genetic testing in this syndrome. Since BrS is defined by a particular electrocardiogram (ECG) pattern, after ruling out certain possible causes, this disease has come to be defined more for what it is not than for what it is. Extensive research is required to understand the effects of specific individual variants, including modifiers, rather than necessarily grouping together, for example, “all SCN5A variants” when trying to determine genotype-phenotype relationships, because not all variants within a particular gene act similarly. Genetic testing, including whole exome or whole genome testing, and family segregation analysis should always be performed when possible, as this is necessary to advance our understanding of the genetics of this condition. All considered, BrS should no longer be considered a pure autosomal dominant disorder, but an oligogenic condition. Less common patterns of inheritance, such as recessive, X–linked, or mitochondrial may exist. Genetic testing, in our opinion, should not be used for diagnostic purposes. However, variants in SCN5A can have a prognostic value. Patients should be diagnosed and treated per the current guidelines, after an arrhythmologic examination, based on the presence of the specific BrS ECG pattern. The genotype characterization should come in a second stage, particularly in order to guide the familial diagnostic work-up. In families in which an SCN5A pathogenic variant is found, genetic testing could possibly contribute to the prognostic risk stratification.https://www.frontiersin.org/articles/10.3389/fcvm.2021.652027/fullBrugada syndromesudden cardiac deathgenetic testingmutationvariantSCN5A |
| spellingShingle | Michelle M. Monasky Emanuele Micaglio Emanuela T. Locati Carlo Pappone Carlo Pappone Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification Frontiers in Cardiovascular Medicine Brugada syndrome sudden cardiac death genetic testing mutation variant SCN5A |
| title | Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification |
| title_full | Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification |
| title_fullStr | Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification |
| title_full_unstemmed | Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification |
| title_short | Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification |
| title_sort | evaluating the use of genetics in brugada syndrome risk stratification |
| topic | Brugada syndrome sudden cardiac death genetic testing mutation variant SCN5A |
| url | https://www.frontiersin.org/articles/10.3389/fcvm.2021.652027/full |
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