Literature DB >> 30499100

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Stephen G Gonsalves1, Robert T Dirksen2, Katrin Sangkuhl3, Rebecca Pulk4, Maria Alvarellos3, Teresa Vo5, Keiko Hikino6, Dan Roden7, Teri E Klein3, S Mark Poler8, Sephalie Patel9, Kelly E Caudle10, Ronald Gordon11, Barbara Brandom12, Leslie G Biesecker1,13.   

Abstract

The identification in a patient of 1 of the 50 variants in the RYR1 or CACNA1S genes reviewed here should lead to a presumption of malignant hyperthermia susceptibility (MHS). MHS can lead to life-threatening reactions to potent volatile anesthetic agents or succinylcholine. We summarize evidence from the literature supporting this association and provide therapeutic recommendations for the use of these agents in patients with these RYR1 or CACNA1S variants (updates at https://cpicpgx.org/guidelines and www.pharmgkb.org).
© 2018 The Authors Clinical Pharmacology & Therapeutics © 2018 American Society for Clinical Pharmacology and Therapeutics.

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Year:  2019        PMID： 30499100      PMCID： PMC6513720          DOI： 10.1002/cpt.1319

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN： 0009-9236            Impact factor:   6.875


  37 in total

1.  Testing for malignant hyperthermia.

Authors:  Henry Rosenberg; Joseph F Antognini; Sheila Muldoon
Journal:  Anesthesiology       Date:  2002-01       Impact factor: 7.892

2.  Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

Authors:  A Urwyler; T Deufel; T McCarthy; S West
Journal:  Br J Anaesth       Date:  2001-02       Impact factor: 9.166

3.  King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

Authors:  C E D'Arcy; A Bjorksten; E M Yiu; A Bankier; R Gillies; C A McLean; L K Shield; M M Ryan
Journal:  Neurology       Date:  2008-09-02       Impact factor: 9.910

4.  Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.

Authors:  Demetra S Stamm; Arthur S Aylsworth; Jeffrey M Stajich; Stephen G Kahler; Leigh B Thorne; Marcy C Speer; Cynthia M Powell
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

5.  Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.

Authors:  Carlos A Ibarra M; Shiwen Wu; Kumiko Murayama; Narihiro Minami; Yasuko Ichihara; Hirosato Kikuchi; Satoru Noguchi; Yukiko K Hayashi; Ryoichi Ochiai; Ichizo Nishino
Journal:  Anesthesiology       Date:  2006-06       Impact factor: 7.892

Review 6.  Mutations in RYR1 in malignant hyperthermia and central core disease.

Authors:  Rachel Robinson; Danielle Carpenter; Marie-Anne Shaw; Jane Halsall; Philip Hopkins
Journal:  Hum Mutat       Date:  2006-10       Impact factor: 4.878

Review 7.  Ryanodine receptor mutations in malignant hyperthermia and central core disease.

Authors:  T V McCarthy; K A Quane; P J Lynch
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

8.  Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Authors:  N Monnier; N B Romero; J Lerale; P Landrieu; Y Nivoche; M Fardeau; J Lunardi
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

9.  Trends and outcomes of malignant hyperthermia in the United States, 2000 to 2005.

Authors:  Eric B Rosero; Adebola O Adesanya; Carlos H Timaran; Girish P Joshi
Journal:  Anesthesiology       Date:  2009-01       Impact factor: 7.892

10.  Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Authors:  D S Stamm; C M Powell; J M Stajich; V L Zismann; D A Stephan; B Chesnut; A S Aylsworth; S G Kahler; K L Deak; J R Gilbert; M C Speer
Journal:  Neurology       Date:  2008-10-08       Impact factor: 9.910
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  17 in total

Review 1.  Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.

Authors:  Cyrine E Haidar; Kristine R Crews; James M Hoffman; Mary V Relling; Kelly E Caudle
Journal:  Annu Rev Genomics Hum Genet       Date:  2022-05-10       Impact factor: 9.340

Review 2.  The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later.

Authors:  Mary V Relling; Teri E Klein; Roseann S Gammal; Michelle Whirl-Carrillo; James M Hoffman; Kelly E Caudle
Journal:  Clin Pharmacol Ther       Date:  2019-11-05       Impact factor: 6.875

3.  [Pharmacogenomics: precision tool in routine prescription].

Authors:  Bing Yu
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2020-11

Review 4.  Pharmacogenomics.

Authors:  Dan M Roden; Howard L McLeod; Mary V Relling; Marc S Williams; George A Mensah; Josh F Peterson; Sara L Van Driest
Journal:  Lancet       Date:  2019-08-05       Impact factor: 79.321

Review 5.  Pharmacogenomic considerations for medications in the perioperative setting.

Authors:  Ellie H Jhun; Jeffrey L Apfelbaum; David M Dickerson; Sajid Shahul; Randall Knoebel; Keith Danahey; Mark J Ratain; Peter H O'Donnell
Journal:  Pharmacogenomics       Date:  2019-07       Impact factor: 2.638

6.  PharmGKB summary: very important pharmacogene information for CACNA1S.

Authors:  Katrin Sangkuhl; Robert T Dirksen; Maria L Alvarellos; Russ B Altman; Teri E Klein
Journal:  Pharmacogenet Genomics       Date:  2020-02       Impact factor: 2.000

7.  Integrative omics - An arsenal for drug discovery.

Authors:  Rahul Soloman Singh; Vani Angra; Ashutosh Singh; Gladson David Masih; Bikash Medhi
Journal:  Indian J Pharmacol       Date:  2022 Jan-Feb       Impact factor: 2.833

8.  Potential role of pharmacogenomics testing in the setting of enhanced recovery pathways after surgery.

Authors:  Hamdy Awad; Ahmed Ahmed; Richard D Urman; Nicoleta Stoicea; Sergio D Bergese
Journal:  Pharmgenomics Pers Med       Date:  2019-07-26

Review 9.  Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges.

Authors:  Catriona Hippman; Corey Nislow
Journal:  J Pers Med       Date:  2019-08-07

10.  Pharmacogenetics in Practice: Estimating the Clinical Actionability of Pharmacogenetic Testing in Perioperative and Ambulatory Settings.

Authors:  D Max Smith; Beth N Peshkin; T Blaise Springfield; Ryan P Brown; Elizabeth Hwang; Susanna Kmiecik; Richard Shapiro; Zayd Eldadah; Conor Lundergan; Joel McAlduff; Bonnie Levin; Sandra M Swain
Journal:  Clin Transl Sci       Date:  2020-02-12       Impact factor: 4.689
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