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A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 1196959
Author(s) Girard, Thierry; Suhner, Markus; Levano, Soledad; Singer, Martine; Zollinger, Andreas; Hofer, Christoph K.
Author(s) at UniBasel Girard, Thierry
Year 2008
Title A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser
Journal Anesthesia and Analgesia
Volume 107
Number 6
Pages / Article-Number 1953-1955
Abstract A 37-yr-old patient scheduled for elective bursectomy developed fulminant malignant hyperthermia (MH) under sevoflurane anesthesia. The first sign was a dramatic increase in end-tidal CO(2). Symptomatic and specific therapy was rapidly instituted. Postoperative rhabdomyolysis was treated with veno-venous hemofiltration. The patient rejected open muscle biopsy for in vitro contracture testing. Therefore, molecular testing was performed. An infrequent MH causative mutation was identified on the ryanodine receptor gene. This case report confirms the causative nature of this mutation. It also shows that molecular genetic investigation may be as appropriate as in vitro contracture testing to confirm the diagnosis after a clinical episode of MH.
Publisher Lippincott, Williams & Wilkins
ISSN/ISBN 0003-2999 ; 1526-7598
edoc-URL https://edoc.unibas.ch/62954/
Full Text on edoc No
Digital Object Identifier DOI 10.1213/ane.0b013e3181857903
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/19020143
 
   

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