Yield and clinical utility of the ‘molecular autopsy’ in cases of the Sudden Arrhythmic Death Syndrome (SADS) and their families
File(s)
Accepted version
Author(s)
Type
Journal Article
Abstract
Post-mortem genetic testing (‘molecular autopsy’) of sudden arrhythmic
death syndrome (SADS) cases can establish a clear molecular diagnosis in a substantial minority.
This complements family evaluation. Classification of pathogenicity of genetic variants must,
however, be stringent in order to avoid the over calling of variants of unknown significance as
causative. Children and young adults presenting with seizures and syncope, especially when
associated with stress or exercise, require thorough cardiac evaluation in order to not miss
catecholaminergic polymorphic ventricular tachycardia. Molecular autopsy should not however
be restricted to the young as cases over 35 years old also carry diagnostic variants.
death syndrome (SADS) cases can establish a clear molecular diagnosis in a substantial minority.
This complements family evaluation. Classification of pathogenicity of genetic variants must,
however, be stringent in order to avoid the over calling of variants of unknown significance as
causative. Children and young adults presenting with seizures and syncope, especially when
associated with stress or exercise, require thorough cardiac evaluation in order to not miss
catecholaminergic polymorphic ventricular tachycardia. Molecular autopsy should not however
be restricted to the young as cases over 35 years old also carry diagnostic variants.
Date Acceptance
2017-02-14
Citation
Journal of the American College of Cardiology
ISSN
1558-3597
Publisher
Elsevier
Journal / Book Title
Journal of the American College of Cardiology
Subjects
1102 Cardiovascular Medicine And Haematology
1117 Public Health And Health Services
Publication Status
Accepted
Date Publish Online
2018-05-02