Prediction of Malignant Hyperthermia Susceptibility by Clinical Signs

1987 ◽  
Vol 66 (4) ◽  
pp. 547-550 ◽  
Author(s):  
Ronald D. Miller ◽  
MARILYN GREEN LARACH ◽  
HENRY ROSENBERG ◽  
DAVID R. LARACH ◽  
A. MICHAEL BROENNLE
2002 ◽  
Vol 30 (4) ◽  
pp. 453-461 ◽  
Author(s):  
A. N. Pollock ◽  
E. E. Langton ◽  
K. Couchman ◽  
K. M. Stowell ◽  
M. Waddington

Early clinical signs, triggering agents, time to onset of reaction, mortality and methods of treatment were identified in 123 suspected malignant hyperthermia reactions. In vitro contracture test results were compared with clinical signs and the Malignant Hyperthermia Clinical Grading Scale. Increased end-tidal carbon dioxide is the earliest sign when not preceded by masseter spasm. Earlier diagnosis reduces the incidence of rigidity and severe metabolic acidosis. The combination of suxamethonium and a potent volatile anaesthetic agent triggers an earlier reaction compared with a volatile agent alone. There has been zero mortality since 1981, essentially due to a combination of advanced monitoring capability, increased anaesthetist awareness of malignant hyperthermia, and dantrolene availability. DNA analysis has identified nine New Zealand families with ryanodine receptor gene mutations. A positive DNA test indicates malignant hyperthermia susceptibility with “causative” mutations but discordance requires that negative DNA tests are confirmed with in vitro contracture test. This test also demonstrated the shortcomings of the Malignant Hyperthermia Clinical Grading Scale.


1990 ◽  
Vol 64 (4) ◽  
pp. 425-429 ◽  
Author(s):  
W. HACKL ◽  
W. MAURITZ ◽  
M. SCHEMPER ◽  
M. WINKLER ◽  
P. SPORN ◽  
...  

2020 ◽  
Vol 21 (17) ◽  
pp. 1207-1215
Author(s):  
Jordan F Baye ◽  
Natasha J Petry ◽  
Shauna L Jacobson ◽  
Michelle M Moore ◽  
Bethany Tucker ◽  
...  

Aim: This manuscript describes implementation of clinical decision support for providers concerned with perioperative complications of malignant hyperthermia susceptibility. Materials & methods: Clinical decision support for malignant hyperthermia susceptibility was implemented in 2018 based around our pre-emptive genotyping platform. We completed a brief descriptive review of patients who underwent pre-emptive testing, focused particularly on RYR1 and CACNA1S genes. Results: To date, we have completed pre-emptive genetic testing on more than 10,000 patients; 13 patients having been identified as a carrier of a pathogenic or likely pathogenic variant of RYR1 or CACNA1S. Conclusion: An alert system for malignant hyperthermia susceptibility – as an extension of our pre-emptive genomics platform – was implemented successfully. Implementation strategies and lessons learned are discussed herein.


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