 North American Malignant Hyperthermia Registry
Barbara W. Brandom, MD, Director
Department of Anesthesiology, CHP, room 7446
Tel: 888-274-7899
Email: bwb+@pitt.edu
Website: www.mhreg.org
Introduction
The North American MH Registry was established in 1987 by Dr. Marilyn G. Larach
at Penn State, Hershey, PA, when Dr. Julien Biebuyck was Chair of Anesthesiology. The Registry merged with the
Malignant Hyperthermia Association of the United States (MHAUS) in 1995 to
provide ongoing support for collection of data. The Registry is currently
directed by Dr. Barbara Brandom at Children's Hospital in Pittsburgh, PA.
The Registry's goal is to acquire and disseminate case-specific clinical and laboratory information relevant to malignant hyperthermia susceptibility in order to facilitate research. Registry functions are consistent with HIPAA, OHRP, and IRB regulations. Registry data has been used to conduct research in the epidemiology, diagnosis, and treatment of MH.
Objectives of the Registry are to:
- Maintain a central database of individuals with MH susceptibility and similar syndromes. (With the person's consent, specific identifiers are included in the Registry. Otherwise, only de-identified data is entered.)
- Provide database services to MH diagnostic referral centers for standardization and validation of MH diagnostic testing procedures, including genetic tests.
- Investigate the epidemology of MH in order to improve diagnosis, treatment, and prevention of MH episodes.
- Give a registered patient the security of knowing that there is a central repository of information concerning their MH susceptibility status.
Description of the North American Malignant Hyperthermia Registry Data
- Biopsy (Bx) reports record the results of the caffeine-halothane contracture test, the gold standard test of MH susceptibility. Other clinical and family information may also be reported.
- Total: 3,275
- Positive: 1,565
- Negative: 1,608
- Equivocal: 81
- Adverse Metabolic/Muscular Reaction to Anesthesia (AMRA) Reports record a clinical episode that could be MH. They are blinded as to patient identity.
- Total: 556
- Definite MH: 170
- Possible MH (may include masseter spasm): 266
- Adverse event not thought to be MH: 68
- Other: 52
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How to Register a Patient
If your patient has a MH episode, please contact us at the Registry at 888-274-7899 so that we can send you an AMRA (Adverse Metabolic/Muscular Reaction to Anesthesia) Report for you to fill out. This form is HIPAA compliant and contains no patient identifiers.
Please ask your patient to contact us directly about adding their name to the Registry. We will obtain their consent and send them an Already Known or suspected As MH susceptible (AKA) report. The AKA allows the patient to record information similar to that on the AMRA, and with consent place this with their identity in the NAMHR. Then we can more easily provide it to them and their health care providers.
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The Importance of Caffeine-Halothane Contracture Testing (CHCT)
The CHCT is an invasive test requiring a large amount of muscle tissue (about thumb-sized) only available at a few centers in the US and Canada. The patient has to travel to these centers. It is important that patients pursue the CHCT muscle biopsy to confirm MH susceptibility. Those with positive contracture results may participate in a study of MH genetics. This is the only way to improve the sensitivity of genetic testing of MH susceptibility. One individual in a family with positive contractures and a causative mutation could allow identification of other MHS people in that family without them necessarily having a CHCT muscle biopsy.
List of MH Muscle Biopsy Centers
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Research Using Registry Data
If you are interested in conducting research with data in the NAMHR, please see the following documents for further information.
Additionally, the NAMHR has compiled a library of works concerning MH and related topics. Researchers on approved studies will have access to this library, which contains over 600 abstracts and over 700 full text articles.
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Current Studies:
Molecular Genetics of Malignant Hyperthermia Susceptibility
Barbara W. Brandom, MD
Co-Investigators: Sheila Muldoon, MD; Nyamkhishge Sambuughin, PhD; Cynthia Wong, MD
The specific aim of this study is to identify genes associated with Malignant Hyperthermia Susceptibility (MHS) in families known to have MHS or individuals who have suffered life-threatening episodes of rhabdomyolysis. A secondary aim is to measure creatine kinase (CK) because elevated CK may be associated with some RYR1 mutations.
Assessment of the Safety and Efficacy of Dantrolene
Principal Investigator: Barbara W. Brandom, MD
Co-Investigator: Marilyn Green Larach, MD
This study will determine the frequency with which MH events were treated with dantrolene, determine the initial and total dose of dantrolene required to treat an MH event, determine dantrolene's safety and efficacy for the treatment of MH events by examining MH morbidity, mortality after dantrolene therapy and examining the frequency and type of reported dantrolene side effects.
Study of Post-Operative Malignant Hyperthermia
Principal Investigator: Ronald Litman, MD
This is a review of Malignant Hyperthermia cases from the Registry in which symptoms of MH first appeared post-operatively.
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Abstracts:
- Presented to the American Society of Anesthesiologists (ASA), 2005:
Burkman JM, Posner KL, Domino KB: Analysis of the clinical variables associated with recrudescence after malignant hyperthermia reactions
- Presented to the American Society of Anesthesiologists (ASA), 2004:
Sambuughin N, Holley H, Brandom B, Nelson T, Muldoon S: Comprehensive screening of the RYR1 gene for malignant hyperthermia susceptibility
- Presented to the European Congress of Nursing, 2004,
previously presented to the American Association of Nurse Anesthethists, 2003:
Ciceron MC, Lauriello R, McCarthy EJ, McDonough JP: Differences in clinical manifestations in malignant hyperthermia episodes with succinylcholine or volatile anesthetics
- Presented to the Society for Pediatric Anesthesia, 2003:
Brandom BW, Larach MG, Gurgis F: Comparison of pediatric and adult patients with regard to the safety and efficacy of dantrolene
- Presented to the American Society of Anesthesiologists, 2002:
Kozack JK: A survey of chronic muscle pain and other symptoms in malignant hyperthermia susceptible individuals
- Presented to the American Society of Anesthesiologists, 2002:
Brandom BW, Larach MG: Reassessment of the safety and efficacy of dantrolene
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Publications:
- Muldoon SM, Deuster P, Brandom BW, Bunger R: Is There a Link between Malignant Hyperthermia and Exertional Heat Illness. Exercise and Sport Sciences Reviews 2004; 32:174-179
- Sei Y, Sambuughin NN, Davis EJ, Sachs D, Cuenca PB, Brandom BW, Tautz T,
Rosenberg H, Nelson TE, Muldoon SM: Malignant Hyperthermia in North America:
Genetic Screening of the Three Hot Spots in the Type I Ryanodine Receptor Gene.
Anesthesiology 2004; 101:824-830
- Sei Y, Brandom BW, Bina S, Hosio E, Gallagher KL, Wyre HW, Pudimat PA,
Holman SJ, Venzon DJ, Daly JW, Muldoon SM: Patients with malignant hyperthermia
demonstrate an altered calcium control mechanism in B lymphocytes.
Anesthesiology 2002; 97:1052-1058
- Allen GC, Larach MG, Kunselman AR, The North American MH Registry: The
sensitivity and specificity of the caffeine halothane contracture test.
Anesthesiology 1998; 88:579-588
- Albrecht A, Wedel DJ, Gronert GA: Masseter muscle rigidity and non
depolarizing neuromuscular blocking agents. Mayo Clin Proc 1997; 72:329-332
- Larach MG, Rosenberg H, Gronert GA, Allen GC: Hyperkalemic cardiac arrest
during anesthesia in infants and children with occult myopathies. Clin Pediatr
(Phila) 1997; 36:9-16
- Antognini JF: Creatine kinase alterations after acute malignant hyperthermia
episodes and common surgical procedures. Anesth Analg 1995; 81:1039-1042
- Larach MG, Localio AR, Allen GC, Denborough MA, Ellis FR, Gronert GA, Kaplan
RF, Muldoon SM, Nelson TE, Ording H, et al: A clinical grading scale to predict
malignant hyperthermia susceptibility. Anesthesiology 1994; 80:771-779
- Larach MG, Landis JR, Bunn JS, Diaz M, The North American MH Registry:
Prediction of malignant hyperthermia susceptibility in low-risk subjects.
Anesthesiology 1992; 76:16-27
- Larach MG: Standardization of the caffeine halothane muscle contracture
test, North American Malignant Hyperthermia Group. Anesth Analg 1989; 69:511-515
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