Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
cardiac death
cardiomyopathy
genetic testing
post-mortem
sudden death
Journal
Open medicine (Warsaw, Poland)
ISSN: 2391-5463
Titre abrégé: Open Med (Wars)
Pays: Poland
ID NLM: 101672167
Informations de publication
Date de publication:
2020
2020
Historique:
received:
20
12
2019
revised:
24
04
2020
accepted:
24
04
2020
entrez:
18
12
2020
pubmed:
19
12
2020
medline:
19
12
2020
Statut:
epublish
Résumé
Post-mortem genetic analyses may help to elucidate the cause of cardiac death. The added value is however unclear when a cardiac disease is already suspected or affirmed. Our aim was to study the feasibility and medical impact of post-mortem genetic analyses in suspected cardiomyopathy. We studied 35 patients with cardiac death and suspected cardiomyopathy based on autopsy or clinical data. After targeted sequencing, we identified 15 causal variants in 15 patients (yield 43%) in sarcomeric (
Identifiants
pubmed: 33336002
doi: 10.1515/med-2020-0150
pii: med-2020-0150
pmc: PMC7711964
doi:
Types de publication
Journal Article
Langues
eng
Pagination
435-446Informations de copyright
© 2020 Isabelle Marey et al., published by De Gruyter.
Déclaration de conflit d'intérêts
Conflict of interest: The authors report no potential conflict of interest in relation to the manuscript.
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