Genetics of inherited primary arrhythmia disorders
Danna A Spears, Michael H Gollob Division of Cardiology – Electrophysiology, University Health Network, Toronto General Hospital, Toronto, ON, Canada Abstract: A sudden unexplained death is felt to be due to a primary arrhythmic disorder when no structural heart disease is found on autopsy...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2015-09-01
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| Series: | The Application of Clinical Genetics |
| Online Access: | https://www.dovepress.com/genetics-of-inherited-primary-arrhythmia-disorders-peer-reviewed-article-TACG |
| _version_ | 1819206867088310272 |
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| author | Spears DA Gollob MH |
| author_facet | Spears DA Gollob MH |
| author_sort | Spears DA |
| collection | DOAJ |
| description | Danna A Spears, Michael H Gollob Division of Cardiology – Electrophysiology, University Health Network, Toronto General Hospital, Toronto, ON, Canada Abstract: A sudden unexplained death is felt to be due to a primary arrhythmic disorder when no structural heart disease is found on autopsy, and there is no preceding documentation of heart disease. In these cases, death is presumed to be secondary to a lethal and potentially heritable abnormality of cardiac ion channel function. These channelopathies include congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and short QT syndrome. In certain cases, genetic testing may have an important role in supporting a diagnosis of a primary arrhythmia disorder, and can also provide prognostic information, but by far the greatest strength of genetic testing lies in the screening of family members, who may be at risk. The purpose of this review is to describe the basic genetic and molecular pathophysiology of the primary inherited arrhythmia disorders, and to outline a rational approach to genetic testing, management, and family screening. Keywords: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, short QT syndrome, genetics |
| first_indexed | 2024-12-23T05:14:25Z |
| format | Article |
| id | doaj.art-21b4182a6467414692fe6662441ef7eb |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-12-23T05:14:25Z |
| publishDate | 2015-09-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-21b4182a6467414692fe6662441ef7eb2022-12-21T17:58:52ZengDove Medical PressThe Application of Clinical Genetics1178-704X2015-09-012015default21523323723Genetics of inherited primary arrhythmia disordersSpears DAGollob MHDanna A Spears, Michael H Gollob Division of Cardiology – Electrophysiology, University Health Network, Toronto General Hospital, Toronto, ON, Canada Abstract: A sudden unexplained death is felt to be due to a primary arrhythmic disorder when no structural heart disease is found on autopsy, and there is no preceding documentation of heart disease. In these cases, death is presumed to be secondary to a lethal and potentially heritable abnormality of cardiac ion channel function. These channelopathies include congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, and short QT syndrome. In certain cases, genetic testing may have an important role in supporting a diagnosis of a primary arrhythmia disorder, and can also provide prognostic information, but by far the greatest strength of genetic testing lies in the screening of family members, who may be at risk. The purpose of this review is to describe the basic genetic and molecular pathophysiology of the primary inherited arrhythmia disorders, and to outline a rational approach to genetic testing, management, and family screening. Keywords: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, short QT syndrome, geneticshttps://www.dovepress.com/genetics-of-inherited-primary-arrhythmia-disorders-peer-reviewed-article-TACG |
| spellingShingle | Spears DA Gollob MH Genetics of inherited primary arrhythmia disorders The Application of Clinical Genetics |
| title | Genetics of inherited primary arrhythmia disorders |
| title_full | Genetics of inherited primary arrhythmia disorders |
| title_fullStr | Genetics of inherited primary arrhythmia disorders |
| title_full_unstemmed | Genetics of inherited primary arrhythmia disorders |
| title_short | Genetics of inherited primary arrhythmia disorders |
| title_sort | genetics of inherited primary arrhythmia disorders |
| url | https://www.dovepress.com/genetics-of-inherited-primary-arrhythmia-disorders-peer-reviewed-article-TACG |
| work_keys_str_mv | AT spearsda geneticsofinheritedprimaryarrhythmiadisorders AT gollobmh geneticsofinheritedprimaryarrhythmiadisorders |