Yield and clinical utility of the ‘molecular autopsy’ in cases of the Sudden Arrhythmic Death Syndrome (SADS) and their families

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Title: Yield and clinical utility of the ‘molecular autopsy’ in cases of the Sudden Arrhythmic Death Syndrome (SADS) and their families
Author(s): Lahrouchi, N
Raju, H
Lodder, E
Papatheodorou, S
Ware, JS
Papadakis, M
Tadros, R
Skinner, JR
Crawford, J
Love, DR
Pua, CJ
Soh, BY
Bhalshankar, JD
Govind, R
Tfelt-Hansen, J
Winkel, BG
Werf, C
Wijeyeratne, YD
Mellor, G
Till, J
Cohen, M
Tome-Esteban, M
Sharma, S
Wilde, AAM
Cook, SA
Bezzina, CR
Sheppard, MN
Behr, E
Item 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.
Date of Acceptance: 14-Feb-2017
URI: http://hdl.handle.net/10044/1/44696
ISSN: 1558-3597
Publisher: Elsevier
Journal / Book Title: Journal of the American College of Cardiology
Keywords: 1102 Cardiovascular Medicine And Haematology
1117 Public Health And Health Services
Publication Status: Accepted
Appears in Collections:National Heart and Lung Institute
Faculty of Medicine



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