Cargando…

Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia

Malignant hyperthermia (MH) is a rare life-threatening hypermetabolic muscular disorder with a high mortality rate. Three genes, RYR1, CACNA1S, and STAC3, have been associated with MH susceptibility. Multiple genetic variants have been identified in these three genes. Some of those variants were pat...

Descripción completa

Detalles Bibliográficos
Autores principales: Creech, Trey B., Zhang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444225/
https://www.ncbi.nlm.nih.gov/pubmed/31016048
http://dx.doi.org/10.1155/2019/3189719
_version_ 1783407990923067392
author Creech, Trey B.
Zhang, Li
author_facet Creech, Trey B.
Zhang, Li
author_sort Creech, Trey B.
collection PubMed
description Malignant hyperthermia (MH) is a rare life-threatening hypermetabolic muscular disorder with a high mortality rate. Three genes, RYR1, CACNA1S, and STAC3, have been associated with MH susceptibility. Multiple genetic variants have been identified in these three genes. Some of those variants were pathogenic, but many others are yet to be tested. Such uncertainty can make it challenging for anesthesia providers as there is currently no anesthesia guideline for each genetic variant in patients who have neither clinical nor family history of MH. With the increasing popularity of whole exome sequencing, anesthesia providers will likely face such challenges more often as many patients may have genetic variations of unknown clinical significance in their RYR1, CACNA1S, or STAC3 genes. Here we describe change of anesthesia management for a patient who had an incidental finding of a genetic variant in RYR1 gene undergoing an elective coronary artery bypass surgery.
format Online
Article
Text
id pubmed-6444225
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Hindawi
record_format MEDLINE/PubMed
spelling pubmed-64442252019-04-23 Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia Creech, Trey B. Zhang, Li Case Rep Anesthesiol Case Report Malignant hyperthermia (MH) is a rare life-threatening hypermetabolic muscular disorder with a high mortality rate. Three genes, RYR1, CACNA1S, and STAC3, have been associated with MH susceptibility. Multiple genetic variants have been identified in these three genes. Some of those variants were pathogenic, but many others are yet to be tested. Such uncertainty can make it challenging for anesthesia providers as there is currently no anesthesia guideline for each genetic variant in patients who have neither clinical nor family history of MH. With the increasing popularity of whole exome sequencing, anesthesia providers will likely face such challenges more often as many patients may have genetic variations of unknown clinical significance in their RYR1, CACNA1S, or STAC3 genes. Here we describe change of anesthesia management for a patient who had an incidental finding of a genetic variant in RYR1 gene undergoing an elective coronary artery bypass surgery. Hindawi 2019-03-19 /pmc/articles/PMC6444225/ /pubmed/31016048 http://dx.doi.org/10.1155/2019/3189719 Text en Copyright © 2019 Trey B. Creech and Li Zhang. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Creech, Trey B.
Zhang, Li
Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia
title Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia
title_full Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia
title_fullStr Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia
title_full_unstemmed Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia
title_short Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia
title_sort change of anesthesia management for a patient undergoing cabg by an incidental finding of a genetic variant associated with malignant hyperthermia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444225/
https://www.ncbi.nlm.nih.gov/pubmed/31016048
http://dx.doi.org/10.1155/2019/3189719
work_keys_str_mv AT creechtreyb changeofanesthesiamanagementforapatientundergoingcabgbyanincidentalfindingofageneticvariantassociatedwithmalignanthyperthermia
AT zhangli changeofanesthesiamanagementforapatientundergoingcabgbyanincidentalfindingofageneticvariantassociatedwithmalignanthyperthermia