ArticleOrphanet journal of rare diseases2014
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 69 citations in OpenAlex.
- Phosphorylation of RYR1 at SerScience signaling · 2025Article
- Article
- The Effectiveness of a Mobile National Remote Emergency System for Malignant Hyperthermia in China: Retrospective Pre-Post Implementation Study.Journal of medical Internet research · 2025Article
- Article
- Rebounds of sevoflurane concentration during simulated trigger-free pediatric and adult anesthesia.BMC anesthesiology · 2023Article
- Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.Journal of neuromuscular diseases · 2023Article
- Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.Journal of neuromuscular diseases · 2023Article
- Malignant Hyperthermia in PICU-From Diagnosis to Treatment in the Light of Up-to-Date Knowledge.Children (Basel, Switzerland) · 2022Review
- Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Acta neuropathologica communications · 2022Article
- Neuromuscular symptoms in patients withBrain communications · 2022Article
- Clinical Features of Suspected Malignant Hyperthermia in China from 2015 to 2020: A Retrospective Study from China Malignant Hyperthermia Emergency Assistance Group.Journal of multidisciplinary healthcare · 2022Article
- Malignant hyperthermia in severe COVID-19: 2 case reports.Emergency and critical care medicine · 2021Article
- Review
- An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations.Anesthesiology · 2019Article
- Pharmacogenomic considerations for medications in the perioperative setting.Pharmacogenomics · 2019Review
- The current status of malignant hyperthermia.Journal of biomedical research · 2019Article
- Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Anesthesiology · 2018Review
- Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.Pediatric nephrology (Berlin, Germany) · 2017Article
- Germline genetic variants with implications for disease risk and therapeutic outcomes.Physiological genomics · 2017Review
- [Stocks of dantrolene in anesthesia and intensive care units in Germany : Nationwide online survey with 1673 participants].Der Anaesthesist · 2017Article
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Authors and funding
13 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMalignant hyperthermia (MH) is a rare pharmacogenetic disorder which is characterized by life-threatening metabolic crises during general anesthesia. Classical triggering substances are volatile anesthetics and succinylcholine (SCh). The molecular basis of MH is excessive release of Ca2+ in skeletal muscle principally by a mutated ryanodine receptor type 1 (RyR1). To identify factors explaining the variable phenotypic presentation and complex pathomechanism, we analyzed proven MH events in terms of clinical course, muscle contracture, genetic factors and pharmocological triggers.
methodsIn a multi-centre study including seven European MH units, patients with a history of a clinical MH episode confirmed by susceptible (MHS) or equivocal (MHE) in vitro contracture tests (IVCT) were investigated. A test result is considered to be MHE if the muscle specimens develop pathological contractures in response to only one of the two test substances, halothane or caffeine. Crises were evaluated using a clinical grading scale (CGS), results of IVCT and genetic screening. The effects of SCh and volatile anesthetics on Ca2+ release from sarcoplasmic reticulum (SR) were studied in vitro.
resultsA total of 200 patients met the inclusion criteria. Two MH crises (1%) were triggered by SCh (1 MHS, 1 MHE), 18% by volatile anesthetics and 81% by a combination of both. Patients were 70% male and 50% were younger than 12 years old. Overall, CGS was in accord with IVCT results. Crises triggered by enflurane had a significantly higher CGS compared to halothane, isoflurane and sevoflurane. Of the 200 patients, 103 carried RyR1 variants, of which 14 were novel. CGS varied depending on the location of the mutation within the RyR1 gene. In contrast to volatile anesthetics, SCh did not evoke Ca2+ release from isolated rat SR vesicles.
conclusionsAn MH event could depend on patient-related risk factors such as male gender, young age and causative RyR1 mutations as well as on the use of drugs lowering the threshold of myoplasmic Ca2+ release. SCh might act as an accelerant by promoting unspecific Ca2+ influx via the sarcolemma and indirect RyR1 activation. Most MH crises develop in response to the combined administration of SCh and volatile anesthetics.
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