Postmortem diagnosis of left dominant arrhythmogenic cardiomyopathy: the importance of a multidisciplinary network for sudden death victims. "HIC mors gaudet succurere vitae".
Arrythmogenic left ventricular cardiomyopathy
Cardiovascular pathology
Familial screening
Molecular autopsy
Multidisciplinary network
Sudden death
Journal
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
ISSN: 1879-1336
Titre abrégé: Cardiovasc Pathol
Pays: United States
ID NLM: 9212060
Informations de publication
Date de publication:
Historique:
received:
22
07
2019
revised:
17
09
2019
accepted:
27
09
2019
pubmed:
25
11
2019
medline:
26
3
2020
entrez:
25
11
2019
Statut:
ppublish
Résumé
An apparently healthy man died suddenly at the age of 49 during physical activity. The heart was referred to our Cardiovascular Pathology Unit for valve tissue banking. Pathology findings led to the diagnosis of arrhythmogenic left ventricular cardiomyopathy. Molecular autopsy was performed and two variants of interest were identified in genes associated with arrhythmogenic cardiomyopathy. The 19-year-old son underwent a cardiac screening comprehensive of electrocardiogram (ECG), echocardiogram, cardiac magnetic resonance and genetic testing, and the diagnosis of arrhythmogenic left ventricular cardiomyopathy was achieved. This case report highlights the need of a systematic evaluation of all sudden death victims with autopsy performed by expert cardiovascular pathologists and implemented by molecular analysis, aiming to identify also rare hereditary diseases and activate proper family screening.
Identifiants
pubmed: 31760239
pii: S1054-8807(19)30322-9
doi: 10.1016/j.carpath.2019.107157
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
107157Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.