Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.

Adult Calcium Child Female Heart Arrest / therapy Humans Mutation Near Miss, Healthcare Ryanodine Receptor Calcium Release Channel / genetics Syncope / diagnosis Tachycardia, Ventricular / therapy Young Adult
Cardiac arrest Cardiac arrhythmias Cardiopulmonary resuscitation Catecholaminergic polymorphic ventricular tachycardia Critical care Out-of-hospital cardiac arrest RYR2 gene

Journal

The American journal of emergency medicine
ISSN: 1532-8171
Titre abrégé: Am J Emerg Med
Pays: United States
ID NLM: 8309942

Informations de publication

Date de publication:
10 2022
Historique:
received: 28 06 2022
accepted: 10 07 2022
pubmed: 22 7 2022
medline: 28 9 2022
entrez: 21 7 2022
Statut: ppublish

Résumé

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare channelopathy involving cardiac calcium metabolism that often shows up at an early age with misleading clinical symptoms such as emotion or exercise-related syncope with a normal resting ECG, however, if misdiagnosed, CPVT can lead to cardiac arrest in children or young adults. We describe the case of a 27-year-old woman with several misdiagnosed syncopal episodes leading to out-of-hospital cardiac arrest (OHCA). Her previous medical history, combined with automatic external defibrillator records (AED) and clinical data, strongly suggested the diagnosis of CPVT. Thus beta blocker therapy was immediately started and targeted genetic test undertaken, revealing a previously unreported heterozygous variant in the ryanodine receptor-2 (RYR2) gene.

Identifiants

DOI: 10.1016/j.ajem.2022.07.016 PMID: 35863979
pubmed: 35863979
pii: S0735-6757(22)00451-X
doi: 10.1016/j.ajem.2022.07.016
pii:
doi:

Substances chimiques

Ryanodine Receptor Calcium Release Channel 0
Calcium SY7Q814VUP

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

226.e1-226.e4

Informations de copyright

Copyright © 2022 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest None for authors.

Auteurs

Valeria Carinci (V)

Electrophysiology Unit, Cardiology Department, Maggiore Hospital, Bologna, Italy. Electronic address: valeria.carinci@ausl.bologna.it.

Laura Sofia Cardelli (LS)

Electrophysiology Unit, Cardiology Department, Maggiore Hospital, Bologna, Italy.

Lorenzo Gamberini (L)

Division of Anesthesia, Intensive Care and Prehospital Emergency, Emergency Department, Maggiore Hospital, Bologna, Italy.

Francesca Gualandi (F)

Medical Genetics Unit, Department of Medical Sciences, Department of Mother and Child, University Hospital S. Anna, Ferrara, Italy.

Laura Tonelli (L)

Medical Genetics Unit, Department of Medical Sciences, Department of Mother and Child, University Hospital S. Anna, Ferrara, Italy.

Beatrice Dal Passo (B)

Electrophysiology Unit, Cardiology Department, Maggiore Hospital, Bologna, Italy.

Federico Semeraro (F)

Division of Anesthesia, Intensive Care and Prehospital Emergency, Emergency Department, Maggiore Hospital, Bologna, Italy.

Giovanni Gordini (G)

Division of Anesthesia, Intensive Care and Prehospital Emergency, Emergency Department, Maggiore Hospital, Bologna, Italy.

Gianni Casella (G)

Electrophysiology Unit, Cardiology Department, Maggiore Hospital, Bologna, Italy.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Calcium › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Arrêt cardiaque › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Assurance de la qualité des soins de santé › Incident critique en soins de santé › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Canal de libération du calcium du récepteur à la ryanodine › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Perte de conscience › Syncope › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Tachycardie › Tachycardie ventriculaire › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Cardiac Arrest in a Young Woman: A Near Miss Diagnosis.