É um problema genético que afeta os músculos do corpo e está ligado à forma como a pessoa reage a certos medicamentos. Ele se manifesta como uma resposta em que o corpo acelera demais seu metabolismo (o processo de produção de energia) quando exposto a gases anestésicos potentes, como halotano, sevoflurano e desflurano, ou ao relaxante muscular succinilcolina. Em situações mais raras, pode ser desencadeado por estresse, como exercícios físicos muito intensos ou calor excessivo.
Introdução
O que você precisa saber de cara
É um problema genético que afeta os músculos do corpo e está ligado à forma como a pessoa reage a certos medicamentos. Ele se manifesta como uma resposta em que o corpo acelera demais seu metabolismo (o processo de produção de energia) quando exposto a gases anestésicos potentes, como halotano, sevoflurano e desflurano, ou ao relaxante muscular succinilcolina. Em situações mais raras, pode ser desencadeado por estresse, como exercícios físicos muito intensos ou calor excessivo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group
Cell membrane, sarcolemma, T-tubule
Periodic paralysis hypokalemic 1
An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.
Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667, PubMed:18268335, PubMed:18650434, PubMed:26115329). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+)
Sarcoplasmic reticulum membrane
Malignant hyperthermia 1
Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
9,584 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 195 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipertermia maligna da anestesia
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
13 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
First report of malignant hyperthermia syndrome in an American Guinea hog.
A 3-year-old intact female American Guinea hog that was presented for an elective ovariohysterectomy appeared systemically healthy, with no overt medical conditions. Premedication with clonazepam, tiletamine-zolazepam, and xylazine; anesthetic induction with propofol and maintenance with isoflurane with oxygen on spontaneous ventilation; a ketamine infusion; and morphine for analgesia were provided. Approximately 95 min after isoflurane was initiated, the pig acutely became hyperthermic and severely hypercapnic, with hyperkalemia, hyperlactatemia, and severe metabolic and respiratory acidosis. With high suspicion of malignant hyperthermia syndrome (MHS), isoflurane was discontinued, and active cooling, ventilatory support, dantrolene, aggressive fluid therapy, lidocaine, insulin, and dextrose were administered. The pig developed ventricular tachycardia with subsequent cardiopulmonary arrest. Cardiopulmonary resuscitation was attempted without success. Necropsy findings were suggestive of MHS and genetic testing confirmed a dimutant RYR1 gene. Key clinical message: This is the first report of MHS in a subject from a porcine companion breed and of an atypical, delayed onset. As MHS is life-threatening, preanesthetic genetic testing and/or preemptive treatment with oral dantrolene should be considered for pigs undergoing inhalant-based anesthesia. Premier cas rapporté de syndrome d’hyperthermie maligne chez une truie de Guinée américaineUne truie de Guinée américaine de 3 ans, non stérilisée, présentée pour une ovariohystérectomie élective, semblait en bonne santé générale et ne présentait aucune pathologie apparente. Une prémédication par clonazépam, tilétamine-zolazépam et xylazine a été administrée; l’anesthésie a été induite par du propofol et maintenue par de l’isoflurane sous oxygène et ventilation spontanée; une perfusion de kétamine a été mise en place et de la morphine a été administrée pour l’analgésie. Environ 95 minutes après le début de l’anesthésie à l’isoflurane, la truie a présenté une hyperthermie aiguë et une hypercapnie sévère, associées à une hyperkaliémie, une hyperlactatémie et une acidose métabolique et respiratoire sévère. Devant la forte suspicion de syndrome d’hyperthermie maligne (SHM), l’isoflurane a été arrêté et un refroidissement actif, une assistance ventilatoire, du dantrolène, une fluidothérapie intensive, de la lidocaïne, de l’insuline et du dextrose ont été administrés. Le porc a présenté une tachycardie ventriculaire suivie d’un arrêt cardiorespiratoire. La réanimation cardiorespiratoire a été tentée sans succès. L’autopsie a révélé des signes évocateurs de SHM et les tests génétiques ont confirmé la présence d’une mutation du gèneMessage clinique clé :Il s’agit du premier cas rapporté de SHM chez un porc de compagnie, et plus précisément d’un cas atypique à apparition retardée. Le SHM étant une affection potentiellement mortelle, un test génétique préanesthésique et/ou un traitement préventif par dantrolène oral doivent être envisagés chez les porcs subissant une anesthésie par inhalation.(Traduit par Dr Serge Messier).
General anesthesia and depth of anesthesia (DoA) evaluation methods in laboratory animals: a comprehensive review.
In preclinical research, general anesthesia is essential for humane and feasible procedures but profoundly modulates autonomic, cardiovascular, neurological, and biochemical systems, risking bias in experimental outcomes. In this review our aim was to synthesize current knowledge on commonly used general anesthetics in laboratory animals, their mechanisms and protocols across species (mice, rats, rabbits, pigs), and evidence-based methods to evaluate depth of anesthesia (DoA). Injectable agents (ketamine with α2-agonists, barbiturates, propofol) and inhalational agents (isoflurane, sevoflurane, desflurane) act primarily via NMDA antagonism or GABA-A/glycine modulation, with distinct profiles for analgesia, hemodynamics, respiration, and recovery. Species-specific dosing and routes are summarized for small rodents, rabbits, and pigs, including practical considerations (e.g., thermoregulation, airway management, malignant hyperthermia risk). DoA assessment spans traditional reflex-based scoring and advanced monitoring. EEG, raw and processed indices (e.g., BIS), offers continuous cortical information but requires species-specific validation and cautious interpretation. Autonomic indicators (heart rate, blood pressure, respiratory patterns) and heart-rate variability provide complementary, noninvasive signals yet are confounded by drugs, ventilation, and surgical stimuli. Anesthetic choice is a major experimental variable. Reliable practice demands multimodal DoA monitoring that integrates reflexes, physiologic trends, and, where feasible, EEG, alongside rigorous, species-adapted protocols and transparent reporting. Priorities include validated EEG algorithms for nonhuman species, standardized autonomic indices, and broader adoption of awake models when compatible with scientific aims. These strategies will improve animal welfare and enhance the reproducibility and interpretability of preclinical findings.
A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia.
Malignant hyperthermia, a pharmacogenetic disorder of skeletal muscle, is a potentially fatal reaction triggered by exposure to volatile anesthetics or succinylcholine. Genetic testing of the three known involved genes (RYR1, CACNA1S, and STAC3) has become the first line of testing for malignant hyperthermia susceptibility. However, genetic testing has sensitivity of only up to 70%. Contracture testing may be used to rule out the disorder for some individuals. This study outlines a stepwise approach, using clinical history and assessment as well as interpretation of genetic variants to balance risks and benefits for individuals at risk of this disorder. This work has received an Affirmation of Value designation from the American Society of Anesthesiologists (Schaumburg, Illinois) and endorsement from the Canadian Anesthesiologists' Society (Toronto, Canada).
Drug-induced perioperative malignant hyperthermia: a real-world study based on the Food and Drug Administration Adverse Event Reporting System (FAERS) database.
Perioperative malignant hyperthermia (MH) remains an established adverse drug reaction (ADR) for certain drug classes, but the comprehensive profile of current potential MH-triggering drugs is still lacking. The adverse event (AE) reports related to perioperative MH in the Food and Drug Administration Adverse Event Reporting System (FAERS) from the first quarter of 2005 to the fourth quarter of 2024 were collected to count and trend the drugs associated with perioperative MH or perioperative MH with fatal outcomes. The disproportionality analysis was applied to identify ADR signals for each drug, classifying drugs in regard to perioperative MH, and determining risk levels. From 2005 to 2024, there were 769 perioperative MH cases reported in FAERS, of which 100 (13.00%) were reported as perioperative MH with fatal outcomes. Of the 26 distinct drugs determined in the FAERS database that were related to perioperative MH, 17 were considered to have positive signals according to disproportionality analysis. In all classes, the inhalation anesthetics had the most frequently reported number of perioperative MH, followed by muscle relaxants, general anesthetics and opioid anesthetics. For specific pharmacological drugs, the top five single drugs with the largest reported number were sevoflurane (26.79), isoflurane (25.88%), propofol (9.62%), succinylcholine (6.63%), and fentanyl (4.68%). Linear regression demonstrated that the number of perioperative MH and perioperative MH death reports caused by muscle relaxants continued to increase during the study period. This study provided a comprehensive landscape of the drug-induced perioperative MH, emphasizing continued vigilance, individualized risk assessment. This study provides comprehensive insights into drug-induced perioperative MH, validating known triggers while identifying evolving risk patterns. By contextualizing FAERS data within clinical and pharmacological frameworks, we highlight actionable strategies to enhance patient safety and guide future research in this critical area of anesthesiology.
Anaesthetic considerations for a patient with Emery-Dreifuss muscular dystrophy undergoing cardiac resynchronisation therapy with pacemaker implantation.
Emery-Dreifuss muscular dystrophy is a rare inherited neuromuscular disorder characterised by early joint contractures, slowly progressive humero-peroneal weakness and cardiac conduction defects or cardiomyopathy. Although contractures and weakness usually begin in childhood, cardiac complications, such as atrioventricular block, arrhythmias and dilated cardiomyopathy, typically emerge in early adulthood and may cause sudden cardiac death, if unrecognised. Anaesthetic management is challenging due to potential airway complications from cervical contractures, restrictive respiratory physiology and cardiac instability. Pre-operative cardiac and pulmonary assessment is essential. Depolarising neuromuscular blocking agents and volatile anaesthetics are not absolutely contraindicated but are preferably avoided due to the risk of rhabdomyolysis or malignant hyperthermia-like reactions. Total intravenous anaesthesia is preferred to minimise these risks. We report a 27-year-old man with genetically confirmed Emery-Dreifuss muscular dystrophy and severe multisystem involvement who underwent cardiac resynchronisation therapy pacemaker implantation under total intravenous anaesthetic technique with rocuronium and reversal with sugammadex. Anaesthetic management focused on malignant hyperthermia precautions, airway preparation for limited cervical mobility and minimising arrhythmia risk with readiness for external cardiac pacing. The procedure and recovery were uneventful, demonstrating that the total intravenous anaesthetic technique can be an effective technique for patients with Emery-Dreifuss muscular dystrophy undergoing device implantation.
Publicações recentes
Review of remimazolam and sedatives in the intensive care unit.
Malignant hyperthermia: a case report in Thai Anesthesia Incidents Study (THAI Study).
Anaesthesia for emergency caesarean section in a parturient with bleeding placenta praevia and a potentially malignant hyperthermia-susceptible fetus.
[Malignant hyperthermia of Duchenne muscular dystrophy: application of clinical grading scale and caffeine contracture of skinned muscle fibers].
[Malignant hyperthermia: 2 years of clinical experience at the center for the study of malignant hyperthermia of Naples].
📚 EuropePMC15 artigos no totalmostrando 199
First report of malignant hyperthermia syndrome in an American Guinea hog.
The Canadian veterinary journal = La revue veterinaire canadienneGeneral anesthesia and depth of anesthesia (DoA) evaluation methods in laboratory animals: a comprehensive review.
Veterinary research communicationsA Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia.
AnesthesiologyCorrigendum to 'Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia' (Br J Anaesth 2026; 136: 323-32).
British journal of anaesthesiaDrug-induced perioperative malignant hyperthermia: a real-world study based on the Food and Drug Administration Adverse Event Reporting System (FAERS) database.
International journal of surgery (London, England)Anaesthetic considerations for a patient with Emery-Dreifuss muscular dystrophy undergoing cardiac resynchronisation therapy with pacemaker implantation.
Anaesthesia reportsTotal intravenous anesthesia for cardiac transplantation in a teenager with Becker muscular dystrophy: A case report.
Saudi journal of anaesthesiaSuccessful management of malignant hyperthermia with dantrolene complicated by upper limb DVT: A case report.
Saudi journal of anaesthesiaRemimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report.
JA clinical reportsClinical and Genetic Spectrum of RYR1-Related Disease.
Molecular syndromologyContinuous Epidural Anesthesia for Living-related Renal Transplant in a Patient With Malignant Hyperthermia and Reduced Cardiac Function: A Case Report and Narrative Review of the Literature.
Transplantation proceedingsVolatile Anesthetics: A Comprehensive Review of Pharmacology, Delivery Systems, and Safety Considerations for ICU Practitioners.
Critical care medicineHumidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice.
Skeletal muscle[Discovery of heat-induced calcium release via ryanodine receptors and a novel mechanism of thermal runaway].
Nihon yakurigaku zasshi. Folia pharmacologica JaponicaEuropean Malignant Hyperthermia Group 2025 guidelines for the investigation of malignant hyperthermia susceptibility.
British journal of anaesthesiaAnaesthetic considerations for delivery in an obstetric patient with a RYR1 gene variant: a case report.
International journal of obstetric anesthesiaIdentification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
Neuromuscular disorders : NMDRemimazolam as an Adjunct to General Anesthesia During Surgery for Congenital Heart Disease in a Pediatric Patient With a Family History of Malignant Hyperthermia.
Journal of medical casesSingle Muscle Fiber Calcium Wave Frequency Assay for Malignant Hyperthermia Diagnosis: An Exploratory Validation Study.
AnesthesiologyFunctional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
British journal of anaesthesiaRare Duplication in the RYR1 Gene Causing Malignant Hyperthermia and Clinical Variability.
GenesSuspected Malignant Hyperthermia in a Patient Undergoing Cardiac Surgery: Perioperative Challenges and Management.
Journal of cardiothoracic and vascular anesthesiaNational insights on malignant hyperthermia: a SIAARTI survey on clinical practices, preparedness, and future directions.
Journal of anesthesia, analgesia and critical careDantrolene use across surgical and medical care at Mayo Clinic from 2010 to 2024: Indications, frequency, and value for identifying malignant hyperthermia.
Biomolecules & biomedicineSuccinylcholine-induced rhabdomyolysis in a patient with RYR1 and BCHE variants: A case report.
Biomolecules & biomedicineGenetic Characteristics of Brazilian Patients with MH History.
GenesDevelopment and Validation of a Predictive Model for Hypoxemia in the Postanesthesia Care Unit Following Thoracoscopic Lung Surgery: A Multicenter Cohort Study.
Journal of cardiothoracic and vascular anesthesiaIt will happen once in a lifetime: learning from the SIAARTI survey on malignant hyperthermia clinical practices.
Journal of anesthesia, analgesia and critical careAtypical Postoperative Presentation of Malignant Hyperthermia in an Elderly Patient Following Transcatheter Aortic Valve Replacement.
CureusRedefining Malignant Hyperthermia: Multi-Omics Insights into a Complex Anesthetic Disorder.
Lifestyle genomicsIdentification of a novel de novo RYR1 variant associated with malignant hyperthermia : A case report.
European journal of anaesthesiologyPathologic Findings in Malignant Hyperthermia and Treatment: A Case Report.
Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia NursesImpaired renal graft perfusion due to malignant hyperthermia in kidney transplantation: early reduced graft perfusion by Doppler ultrasonography.
British journal of anaesthesiaTrajectories of Recovery after Intravenous propofol versus inhaled VolatilE anaesthesia (THRIVE) randomised controlled trial in the USA: A protocol.
BMJ openPostoperative malignant hyperthermia in a one-year-old girl with down syndrome: a case report.
Journal of anesthesiaSuspected Thyroid Storm in a Patient Undergoing Internal Fixation for a Left Mandibular Fracture Under General Anesthesia: A Case Report.
CureusMitochondrial bioenergetics and intracellular calcium concentration in primary myotubes from mouse models of malignant hyperthermia.
British journal of anaesthesiaThe Effectiveness of a Mobile National Remote Emergency System for Malignant Hyperthermia in China: Retrospective Pre-Post Implementation Study.
Journal of medical Internet researchA case of suspected malignant hyperthermia in a dog.
The Canadian veterinary journal = La revue veterinaire canadienneKetamine Use in a Laboring Mother With Type 4 Ehlers-Danlos Syndrome, a Family History of Malignant Hyperthermia, and Opioid-Induced Seizures.
Cureus"Testicular Torsion in a Child With CPT-1 Deficiency and History of Viral Myositis: Anesthesia Considerations".
Clinical case reportsThe endocannabinoid system & malignant hyperthermia: From molecular signaling towards clinical implications.
Progress in lipid researchAssociation between joint dislocation and malignant hyperthermia.
Anaesthesia reportsAberrant Intracellular Calcium Homeostasis Disrupts Insulin-stimulated Glucose Uptake in Muscle Cells from Patients with Malignant Hyperthermia Susceptibility.
AnesthesiologyHyperglycemia as an atypical finding of malignant hyperthermia: A case report and literature review.
Journal of diabetes investigationResearch hotspots and trends in malignant hyperthermia due to anesthesia from a global perspective: a bibliometric analysis from 1975 to 2024.
Orphanet journal of rare diseasesAccuracy of improved zero heat flux core temperature monitoring in non-cardiac surgery for patients undergoing general anesthesia.
Scientific reportsMalignant hyperthermia crisis during scoliosis surgery in a pediatric cerebral palsy patient: a case of early recognition and successful intervention.
Frontiers in pediatricsManagement of Suspected Malignant Hyperthermia With Dantrolene: Clinical Insights From 2 Case Reports in a Single-Center Experience.
Clinical medicine insights. Case reportsDrug Induced Sleep Endoscopy in a Child with Poland's Syndrome: A Clinical Challenge.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaMalignant hyperthermia and the dilemma of Dantrolene's unavailability: A case report.
JPMA. The Journal of the Pakistan Medical Association2-Hydroxypropyl-β-cyclodextrin, solubiliser in a novel dantrolene formulation: Its binding affinities to clinical compounds that may be used during anaesthesia or management of malignant hyperthermia.
European journal of pharmaceutics and biopharmaceutics : official journal of Arbeitsgemeinschaft fur Pharmazeutische Verfahrenstechnik e.VIsoflurane activates the type 1 ryanodine receptor to induce anesthesia in mice.
PLoS biologySuccessful management of malignant hyperthermia without dantrolene: A case report.
The Journal of international medical researchCalcium channels in anesthesia management: A molecular and clinical review.
Molecular painAllele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses.
Journal of veterinary internal medicineChallenges and Complications in the Management of Systemic Diseases in Congenital Cataract Surgery.
Journal of pediatric ophthalmology and strabismusSuccessful sedation with remimazolam and alfentanil in a child susceptible to malignant hyperthermia: a case report.
BMC anesthesiologySTAC3 gene congenital myopathy and malignant hyperthermia: a crossroads between neurology and anesthesia.
Arquivos de neuro-psiquiatriaA Review of Non-Cardiac Complications of General Anesthesia: The Current State of Knowledge.
Medical science monitor : international medical journal of experimental and clinical researchAnesthetic Management of Inguinal Hernia Surgery in an Adult Patient With Arthrogryposis Multiplex Congenita: A Case Report.
CureusManaging Simulated Anesthesia Emergencies with the Use of Clinical Decision Support Systems in a Rural Hospital Setting.
AANA journalImpact of different anesthetic protocols during anesthesia for the establishment of a porcine model of acute kidney injury.
Animal models and experimental medicineThe Incidence of Volatile Anesthesia Porcine Stress Syndrome in Pigs (Sus scrofa domesticus) Gives Implications for Physiology during Anesthesia.
Journal of the American Association for Laboratory Animal Science : JAALASAnaesthetic implications of psilocybin and lysergic acid diethylamide: what is old is now new: A narrative review on psychedelics and anaesthesia.
European journal of anaesthesiologyDetecting irreversible cone photoreceptors injury caused by whole-body hyperthermia.
Experimental eye researchTemporary bilateral clamping of renal arteries induces ischemia-reperfusion: A new pig model of acute kidney injury using total intravenous anesthesia.
Physiological reportsPathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.
British journal of anaesthesiaAgreement of zero-heat-flux thermometry compared with infrared tympanic temperature monitoring in adults undergoing major surgery.
European journal of medical researchPediatric Anesthetic Management of a Patient With an ALG-13 Gene Mutation, a Rare Congenital Disorder of Glycosylation.
Clinical case reportsBilingual side effect: a case of foreign language syndrome following chlorpromazine-induced neuroleptic malignant syndrome.
Annals of general psychiatryAnesthesia and Myopathies of Horses.
The Veterinary clinics of North America. Equine practiceDantrolene inhibition of ryanodine receptor 1 carrying the severe malignant hyperthermia mutation Y522S visualized by cryo-EM.
Structure (London, England : 1993)Diagnostic Challenges in Malignant Hyperthermia and Anesthesia-Induced Rhabdomyolysis: A Case Study.
The American journal of case reportsA Review of Muscle Relaxants in Anesthesia in Patients with Neuromuscular Disorders Including Guillain-Barré Syndrome, Myasthenia Gravis, Duchenne Muscular Dystrophy, Charcot-Marie-Tooth Disease, and Inflammatory Myopathies.
Medical science monitor : international medical journal of experimental and clinical researchMalignant hyperthermia during orthognathic surgery: a case report.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyTotal intravenous anesthesia using midazolam and dexmedetomidine as substitutes for propofol in a pediatric patient with egg allergy and a family history of malignant hyperthermia.
Saudi journal of anaesthesiaThe broad spectrum of malignant syndromes.
Neurobiology of diseaseNovel ryanodine receptor 1 (RYR1) missense gene variants in two pet dogs with fatal malignant hyperthermia identified by next-generation sequencing.
Veterinary anaesthesia and analgesiaA Review of Muscular Dystrophies.
Anesthesia progressRecognition and management of a malignant hyperthermia crisis: updated 2024 guideline from the European Malignant Hyperthermia Group.
British journal of anaesthesiaAnesthetic Challenges of a Patient With Limb-Girdle Muscular Dystrophy in a Patient With Colon Cancer.
CureusSpinal Anesthesia for Awake Spine Surgery: A Paradigm Shift for Enhanced Recovery after Surgery.
Journal of clinical medicineRemimazolam Anesthesia for a Pediatric Patient With Glutaric Aciduria Type I: A Case Report.
CureusBruck syndrome in pregnancy.
BMJ case reportsWorking conditions during pregnancy: a survey of 3590 European anaesthesiologists and intensivists.
British journal of anaesthesiaSerotonin Syndrome Induced by Fentanyl Alone in an Adult Patient After Cardiac Surgery: A Case Report.
CureusThiopentone-based total intravenous anaesthesia for a patient with carnitine palmitoyltransferase II deficiency and malignant hyperthermia susceptibility.
Anaesthesia reportsMyopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review.
British journal of anaesthesiaMalignant hyperthermia in a paediatric patient; managed successfully without dantrolene: a case report.
Annals of medicine and surgery (2012)Artificial intelligence approaches to the volumetric quantification of glycogen granules in EM images of human tissue.
The Journal of general physiologyTurn Up the Heat: A Case Report of Malignant Hyperthermia During Ambulatory Surgery.
CureusA novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum.
GeneTreatment and nursing care of a patient diagnosed with malignant hyperthermia after general anesthesia: a case report.
The Journal of international medical researchAnaesthetic management of a parturient with hypokalaemic periodic paralysis for caesarean section: A case report and review of the literature.
Anaesthesia and intensive care[Enhance the management of perioperative crisis events, improve the safety and quality of pediatric anesthesia].
Zhonghua yi xue za zhiImpact of Sugammadex Versus Neostigmine Reversal on Postoperative Recovery Time in Patients With Obstructive Sleep Apnea Undergoing Bariatric Surgery: A Double-Blind, Randomized Controlled Trial.
Anesthesia and analgesiaRemimazolam for anesthesia and sedation in pediatric patients: a scoping review.
Journal of anesthesiaAnesthesia Spearheading Perioperative Safety Efforts in a Patient with Inclusion Body Myositis: A Case Report.
Acta medica PhilippinaSuccessful Treatment Without Using Dantrolene Sodium on a Child Occurring Malignant Hyperthermia During Induction of General Anesthesia: A Case Report.
The Journal of craniofacial surgeryCase Report of the Use of an Intravascular Cooling Device in the Management of Malignant Hyperthermia.
Therapeutic hypothermia and temperature managementA case of pediatric Perthes' disease with unexplained hyperlactatemia at the time of initial surgery and anesthetic management with remimazolam for the subsequent surgery.
JA clinical reportsAnesthetic Management of Patients With Morvan Syndrome: A Case Report and Literature Review.
CureusPerioperative Management of Paraneoplastic Necrotizing Myopathy in Thyroidectomy: A Case Report.
CureusPerioperative management of bronchoscopy in a child patient with central core disease: A case report and literature review.
International journal of surgery case reportsAssociation of malignant hyperthermia and exertional heat illness in young athletes: An analysis of awareness among clinical and athletic first responders.
Saudi journal of anaesthesiaRemimazolam-based total intravenous anesthesia in a patient with a confirmed diagnosis of malignant hyperthermia: a case report.
JA clinical reportsDiagnosis and rescue of malignant hyperthermia induced by anesthesia during radical surgery in a cervical cancer patient using the National Remote Emergency System: A case report.
MedicineClimate Change, Emerging Vector-Borne Illnesses, and Anesthetic Considerations.
CureusMalignant hyperthermia safety - A nationwide survey of publicly funded Swedish healthcare.
Acta anaesthesiologica ScandinavicaThe Anesthesiologists' Perception of Malignant Hyperthermia and Availability of Dantrolene in China: A Cross-Sectional Survey.
Risk management and healthcare policyThe novel rapid formulation of intravenous dantrolene (NPJ5008) versus standard dantrolene (Dantrium®): A clinical part-randomised phase 1 study in healthy volunteers.
European journal of anaesthesiologyAnaesthetic Management of Distal Penile Hypospadias in a G6PD-Deficient Adolescent: Subarachnoid Block as a Safe Alternative.
CureusWhy Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?
NeuropediatricsAnesthetic Management of a Patient With Central Core Disease Undergoing Thoracoscopic Lung Resection: The Importance of Neuromuscular Monitoring at the Masseter Muscle.
CureusSTAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients.
NeuropediatricsParkinsonism-Hyperpyrexia Syndrome in a patient undergoing upper gastrointestinal surgery: A case report.
Qatar medical journalIntraoperative tourniquet-induced hyperthermia in a pediatric patient: a forgotten association -a case report.
Korean journal of anesthesiologyDetection of the T1640C RYR1 mutation indicating malignant hyperthermia in dogs.
Veterinarni medicinaEpidemiological and clinical features of malignant hyperthermia: A scoping review.
Clinical geneticsAnesthetic Management of Coronary Artery Bypass Grafting in a Patient with Charcot-Marie-Tooth Disease and Multivessel Coronary Artery Disease.
The American journal of case reportsGeneral Anesthesia in Schwartz-Jampel Syndrome: A Case Report.
Anesthesiology and pain medicineThe use of guidelines to assess the risk of malignant hyperthermia in individuals with an RYR1 variant.
Neuromuscular disorders : NMDDescription of the Content and Quality of Publicly Available Information on the Internet About Inhaled Volatile Anesthesia and Total Intravenous Anesthesia: Descriptive Study.
JMIR perioperative medicineEvaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
AnesthesiologyOral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis.
Journal of neuromuscular diseasesCurrent clinical application of dantrolene sodium.
Anesthesia and pain medicineRestoration of calcium release synchrony: A novel target for heart failure and ventricular arrhythmia.
Heart rhythmHeart transplant anesthetic approach in a patient with Emery Dreyfuss muscular dystrophy: A case report.
Revista espanola de anestesiologia y reanimacionManagement of a trauma patient with alcohol withdrawal who developed neuroleptic malignant syndrome in Korea: a case report.
Journal of trauma and injurySuspected Malignant Hyperthermia in a Brain-Dead Donor During Anesthesia for Organ Procurement Surgery: A Case Report.
Transplantation proceedingsA first in literature: anesthesia management in kidney transplant surgery of a patient with McArdle disease.
Nigerian journal of clinical practiceBailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.
Brain sciencesDiagnosis and treatment of malignant hyperthermia in a patient undergoing scoliosis surgery.
Asian journal of surgeryWatchful Eye Prevents Catastrophe in Case of Malignant Hyperthermia: A Case Report.
JBJS case connectorIsoflurane Alters Presynaptic Endoplasmic Reticulum Calcium Dynamics in Wild-Type and Malignant Hyperthermia-Susceptible Rodent Hippocampal Neurons.
eNeuroA case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy.
Frontiers in neurologyAnesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report.
JA clinical reportsAnesthetic Management of a Patient With McArdle Disease: A Case Report and Review of the Literature.
CureusA Review on the Anesthetic Management of Patients with Neuromuscular Diseases.
Anesthesiology and pain medicineReal Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review.
Journal of clinical medicineDefinitive diagnosis of malignant hyperthermia susceptibility by genetic testing: A case report.
Paediatric anaesthesiaRebounds of sevoflurane concentration during simulated trigger-free pediatric and adult anesthesia.
BMC anesthesiologyWhat is malignant hyperthermia susceptibility?
British journal of anaesthesiaMuscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
Journal of neuromuscular diseasesPediatric fulminant malignant hyperthermia with severe electroencephalographic abnormality and brain damage: a case report.
Journal of medical case reportsOffice-based General Anesthesia for a Patient With a History of Neuroleptic Malignant Syndrome.
Anesthesia progressA novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
American journal of medical genetics. Part AMalignant hyperthermia in Poland: A survey study.
MedicineRapid Dantrolene Administration with Body Temperature Monitoring Is Associated with Decreased Mortality in Japanese Malignant Hyperthermia Events.
BioMed research internationalAnaesthetic implications for Pompe disease. A case description.
Revista espanola de anestesiologia y reanimacionInhaled Sedation with Volatile Anesthetics for Mechanically Ventilated Patients in Intensive Care Units: A Narrative Review.
Journal of clinical medicineNeuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
Brain communicationsMuscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation.
eLifeAn Unusual Combination of Arthrogryposis, Gastroschisis, Cecal Volvulus, and Malignant Hyperthermia in a Young Woman: A Case Report.
The American journal of case reportsGeneral Anesthetics in CAncer REsection Surgery (GA-CARES) randomized multicenter trial of propofol vs volatile inhalational anesthesia: protocol description.
Perioperative medicine (London, England)Peripartum Management of Congenital Fiber Type Disproportion Myopathy With Severe Restrictive Lung Disease.
CureusRYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
Journal of neuromuscular diseasesRegional anesthesia as a safe option in patient with limb girdle muscular dystrophy undergoing total abdominal hysterectomy: A case report and case review.
Clinical case reportsAwake malignant hyperthermia: report of a case to help prevent crises in operating rooms.
Canadian journal of anaesthesia = Journal canadien d'anesthesieMalignant Hyperthermia in PICU-From Diagnosis to Treatment in the Light of Up-to-Date Knowledge.
Children (Basel, Switzerland)Synchronizing systolic calcium release with azumolene in an experimental model.
Heart rhythm O2Should rocuronium and sugammadex replace succinylcholine for airway emergencies in class B ambulatory anesthesia settings?
Minerva anestesiologicaGene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy.
GenesPostoperative weakness and anesthetic-associated rhabdomyolysis in a pediatric patient: a case report and review of the literature.
Journal of medical case reportsPerioperative management of malignant hyperthermia during general anesthesia: A report of two cases.
Clinical case reportsFunctional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.
British journal of anaesthesiaOral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability.
Anesthesia and analgesiaOrthotopic Liver Transplantation in a Patient with Acutely Decompensated Liver Disease and Personal History of Malignant Hyperthermia.
Case reports in anesthesiologyPrevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.
Journal of equine veterinary scienceRemimazolam in a Pediatric Patient With a Suspected Family History of Malignant Hyperthermia.
Journal of medical casesPerioperative Care for Patients with Neuromuscular Disorders in the Netherlands - A Questionnaire Study Among Anaesthesiologists, Neurologists and Clinical Geneticists.
Journal of neuromuscular diseasesPharmacokinetics of Dantrolene in the Plasma Exchange Treatment of Malignant Hyperthermia in a 14-Year-Old Chinese Boy: A Case Report and Literature Review.
Frontiers in medicineSTAC3 related congenital myopathy: A case series of seven Comorian patients.
European journal of medical geneticsComparison of Emergence Agitation Scale Scores and Creatine Kinase Levels After General Anesthesia in Children: A Prospective Cohort Study.
CureusUse of remimazolam in living donor liver transplantation: a case report.
JA clinical reportsEuropean Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
European journal of neurologyDonating Dantrolene: Development and Implementation of a Malignant Hyperthermia Program in a Scarce Resource Setting.
AANA journalReducing the Carbon Footprint of Anesthesia: Low-Flow Anesthesia and Other Techniques.
AANA journalUpdated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Human molecular geneticsPredictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study.
Brazilian journal of anesthesiology (Elsevier)Malignant hyperthermia crisis in a 14-year-old boy - a case report.
Anaesthesiology intensive therapyChildbirth with epidural analgesia in a pregnant woman with hypokalemic periodic paralysis.
Revista espanola de anestesiologia y reanimacionExpert Multinational Consensus Statement for Total Intravenous Anaesthesia (TIVA) Using the Delphi Method.
Journal of clinical medicinePre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
Neuromuscular disorders : NMDVariants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
Nature communicationsIdentification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.
Disease markersThe First National Remote Emergency System for Malignant Hyperthermia (MH-NRES) in China: Protocol for the Design, Development, and Evaluation of a WeChat Applet.
JMIR research protocolsMalignant hyperthermia in maxillofacial surgery: Literature review supported by case presentation.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryManagement of patients susceptible to malignant hyperthermia: A surgeon's perspective.
International journal of pediatric otorhinolaryngologyMalignant hyperthermia in Mazovia Province - are we adequately prepared?
Anaesthesiology intensive therapyThe effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia.
Anaesthesia and intensive carePerioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report.
Saudi journal of anaesthesiaMalignant Hyperthermia: A Killer If Ignored.
Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia NursesIn 2022, why is temperature monitoring not mandatory?
Canadian journal of anaesthesia = Journal canadien d'anesthesieAnaesthetic management of a parturient patient with a malignant hyperthermia partner.
BMJ case reportsVariant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.
Scientific reportsAnesthetic Management of the Patient with Mitochondrial Disease: A Review of Current Best Evidence.
AANA journalMapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders-a scoping review.
Canadian journal of anaesthesia = Journal canadien d'anesthesieAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- First report of malignant hyperthermia syndrome in an American Guinea hog.
- General anesthesia and depth of anesthesia (DoA) evaluation methods in laboratory animals: a comprehensive review.
- A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia.
- Drug-induced perioperative malignant hyperthermia: a real-world study based on the Food and Drug Administration Adverse Event Reporting System (FAERS) database.
- Anaesthetic considerations for a patient with Emery-Dreifuss muscular dystrophy undergoing cardiac resynchronisation therapy with pacemaker implantation.
- Review of remimazolam and sedatives in the intensive care unit.
- Malignant hyperthermia: a case report in Thai Anesthesia Incidents Study (THAI Study).
- Anaesthesia for emergency caesarean section in a parturient with bleeding placenta praevia and a potentially malignant hyperthermia-susceptible fetus.
- [Malignant hyperthermia of Duchenne muscular dystrophy: application of clinical grading scale and caffeine contracture of skinned muscle fibers].
- [Malignant hyperthermia: 2 years of clinical experience at the center for the study of malignant hyperthermia of Naples].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:423(Orphanet)
- MONDO:0018493(MONDO)
- GARD:6964(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1585081(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
