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2015 ; 8
(ä): 215-33
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Genetics of inherited primary arrhythmia disorders
#MMPMID26425105
Spears DA
; Gollob MH
Appl Clin Genet
2015[]; 8
(ä): 215-33
PMID26425105
show ga
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.
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