Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families
The cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in <i>SCN5A</i>...
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MDPI AG
2022-09-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/11/19/5625 |
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| author | Nadine Molitor Argelia Medeiros-Domingo Siv Fokstuen Frank Ruschitzka Firat Duru Ardan Saguner |
| author_facet | Nadine Molitor Argelia Medeiros-Domingo Siv Fokstuen Frank Ruschitzka Firat Duru Ardan Saguner |
| author_sort | Nadine Molitor |
| collection | DOAJ |
| description | The cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in <i>SCN5A</i> that result in loss of function of Nav1.5 are associated with inherited arrhythmia syndromes, which are caused by reduced cardiac excitability, particularly Brugada syndrome (BrS) as well as arrhythmogenic right ventricular cardiomyopathy (ARVC). We report a novel pathogenic <i>SCNA5</i> variant being associated with BrS overlapping with ARVC, as well as disease progression with a previously reported <i>SCN5A</i> variant being associated with a phenotype of BrS and conduction system disorder in two unrelated families. |
| first_indexed | 2024-03-09T21:35:13Z |
| format | Article |
| id | doaj.art-4ac2be53ceb24dac9b67a417aa0bc012 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-09T21:35:13Z |
| publishDate | 2022-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-4ac2be53ceb24dac9b67a417aa0bc0122023-11-23T20:46:09ZengMDPI AGJournal of Clinical Medicine2077-03832022-09-011119562510.3390/jcm11195625Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated FamiliesNadine Molitor0Argelia Medeiros-Domingo1Siv Fokstuen2Frank Ruschitzka3Firat Duru4Ardan Saguner5Department of Cardiology, University Heart Center Zurich, 8091 Zurich, SwitzerlandSwiss DNAlysis, 8600 Dubendorf, SwitzerlandDepartment of Cardiology, University Heart Center Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center Zurich, 8091 Zurich, SwitzerlandDepartment of Cardiology, University Heart Center Zurich, 8091 Zurich, SwitzerlandThe cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in <i>SCN5A</i> that result in loss of function of Nav1.5 are associated with inherited arrhythmia syndromes, which are caused by reduced cardiac excitability, particularly Brugada syndrome (BrS) as well as arrhythmogenic right ventricular cardiomyopathy (ARVC). We report a novel pathogenic <i>SCNA5</i> variant being associated with BrS overlapping with ARVC, as well as disease progression with a previously reported <i>SCN5A</i> variant being associated with a phenotype of BrS and conduction system disorder in two unrelated families.https://www.mdpi.com/2077-0383/11/19/5625Brugada syndromechannelopathy<i>SCN5A</i>arrhythmogenic right ventricular cardiomyopathyoverlapping syndrome |
| spellingShingle | Nadine Molitor Argelia Medeiros-Domingo Siv Fokstuen Frank Ruschitzka Firat Duru Ardan Saguner Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families Journal of Clinical Medicine Brugada syndrome channelopathy <i>SCN5A</i> arrhythmogenic right ventricular cardiomyopathy overlapping syndrome |
| title | Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families |
| title_full | Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families |
| title_fullStr | Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families |
| title_full_unstemmed | Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families |
| title_short | Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families |
| title_sort | brugada syndrome associated with different heterozygous i scn5a i variants in two unrelated families |
| topic | Brugada syndrome channelopathy <i>SCN5A</i> arrhythmogenic right ventricular cardiomyopathy overlapping syndrome |
| url | https://www.mdpi.com/2077-0383/11/19/5625 |
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