Genetics of inherited primary arrhythmia disorders
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...
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Dove Medical Press
2015
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583121/ |
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pubmed-45831212015-09-30 Genetics of inherited primary arrhythmia disorders Spears, Danna A Gollob, Michael H Review 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. Dove Medical Press 2015-09-18 /pmc/articles/PMC4583121/ /pubmed/26425105 http://dx.doi.org/10.2147/TACG.S55762 Text en © 2015 Spears and Gollob. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Spears, Danna A Gollob, Michael H |
| spellingShingle |
Spears, Danna A Gollob, Michael H Genetics of inherited primary arrhythmia disorders |
| author_facet |
Spears, Danna A Gollob, Michael H |
| author_sort |
Spears, Danna A |
| title |
Genetics of inherited primary arrhythmia disorders |
| title_short |
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_sort |
genetics of inherited primary arrhythmia disorders |
| description |
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. |
| publisher |
Dove Medical Press |
| publishDate |
2015 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583121/ |
| _version_ |
1613479838067195904 |