Erschienen in:
01.07.2010 | Case Reports/Case Series
A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene
verfasst von:
P. Jason Toppin, MD, Tony T. Chandy, MD, Anand Ghanekar, MD, Natalia Kraeva, PhD, W. Scott Beattie, MD, Sheila Riazi, MD
Erschienen in:
Canadian Journal of Anesthesia/Journal canadien d'anesthésie
|
Ausgabe 7/2010
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Abstract
Purpose
To report the identification of a novel mutation in the CACNA1S gene that encodes the alpha-1-subunit (Cav1.1) of the voltage-gated skeletal muscle L-type calcium channel in a patient with malignant hyperthermia.
Clinical findings
An otherwise healthy 34-yr-old female developed fulminant malignant hyperthermia (MH) under sevoflurane anesthesia during laparoscopic donor nephrectomy. The first sign was an increase in end-tidal CO2. Malignant hyperthermia was suspected early, and resuscitative measures, including supportive and specific treatment, were successfully implemented. The patient rejected the open muscle biopsy for the Caffeine-Halothane Contracture Test (CHCT); therefore, only molecular genetic testing was performed. Sequencing of the entire ryanodine receptor type 1 transcript did not reveal any MH causative mutations. However, a novel homozygous mutation, p.Arg1086Ser, was identified in the CACNA1S gene that encoded for the alpha-1-subunit of the skeletal muscle L-type calcium channel (Cav1.1). A CACNA1S mutation, p.Arg1086His, involving the same Arg1086 residue that is mutated in our patient has previously been reported in association with MH in three independent families.
Conclusion
The homozygous p.Arg1086Ser mutation of CACNA1S, the gene that encodes the alpha-1-subunit of the voltage-gated skeletal muscle L-type calcium channel, is a novel mutation associated with malignant hyperthermia.