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@article{Lahrouchi:2020:10.1038/s41431-019-0500-8,
author = {Lahrouchi, N and Raju, H and Lodder, EM and Papatheodorou, S and Miles, C and Ware, JS and Papadakis, M and Tadros, R and Cole, D and Skinner, JR and Crawford, J and Love, DR and Pua, CJ and Soh, BY and Bhalshankar, JD and Govind, R and Tfelt-Hansen, J and Winkel, BG and van, der Werf C and Wijeyeratne, YD and Mellor, G and Till, J and Cohen, M and Tome-Esteban, M and Sharma, S and Wilde, AAM and Cook, SA and Sheppard, MN and Bezzina, CR and Behr, ER},
doi = {10.1038/s41431-019-0500-8},
journal = {European Journal of Human Genetics},
pages = {17--22},
title = {The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy},
url = {http://dx.doi.org/10.1038/s41431-019-0500-8},
volume = {28},
year = {2020}
}

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TY  - JOUR
AB  - Sudden cardiac death (SCD) is often associated with structural abnormalities of the heart during autopsy. This study sought to compare the diagnostic yield of postmortem genetic testing in (1) cases with structural findings of uncertain significance at autopsy to (2) cases with autopsy findings diagnostic of cardiomyopathy. We evaluated 57 SCD cases with structural findings at cardiac autopsy. Next-generation sequencing using a panel of 77 primary electrical disorder and cardiomyopathy genes was performed. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. In 29 cases (51%) autopsy findings of uncertain significance were identified whereas in 28 cases (49%) a diagnosis of cardiomyopathy was established. We identified a pathogenic or likely pathogenic variant in 10 cases (18%); in 1 (3%) case with non-specific autopsy findings compared with 9 (32%) cases with autopsy findings diagnostic of cardiomyopathy (p = 0.0054). The yield of genetic testing in SCD cases with autopsy findings consistent with cardiomyopathy is comparable with the yield in cardiomyopathy patients that are alive. Genetic testing in cases with findings of uncertain significance offers lower clinical utility than in cardiomyopathy, with lower yields than detected previously. This highlights the need for stringent evaluation of variant pathogenicity.
AU  - Lahrouchi,N
AU  - Raju,H
AU  - Lodder,EM
AU  - Papatheodorou,S
AU  - Miles,C
AU  - Ware,JS
AU  - Papadakis,M
AU  - Tadros,R
AU  - Cole,D
AU  - Skinner,JR
AU  - Crawford,J
AU  - Love,DR
AU  - Pua,CJ
AU  - Soh,BY
AU  - Bhalshankar,JD
AU  - Govind,R
AU  - Tfelt-Hansen,J
AU  - Winkel,BG
AU  - van,der Werf C
AU  - Wijeyeratne,YD
AU  - Mellor,G
AU  - Till,J
AU  - Cohen,M
AU  - Tome-Esteban,M
AU  - Sharma,S
AU  - Wilde,AAM
AU  - Cook,SA
AU  - Sheppard,MN
AU  - Bezzina,CR
AU  - Behr,ER
DO  - 10.1038/s41431-019-0500-8
EP  - 22
PY  - 2020///
SN  - 1018-4813
SP  - 17
TI  - The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy
T2  - European Journal of Human Genetics
UR  - http://dx.doi.org/10.1038/s41431-019-0500-8
UR  - https://www.ncbi.nlm.nih.gov/pubmed/31534214
UR  - http://hdl.handle.net/10044/1/74668
VL  - 28
ER  -

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