Malignant Hyperthermia

Page contents: What is the test for MH? | How is the biopsy performed? | How do I find a MH result? | Who should be tested? | How do I organise testing? | What is the availability of genetic testing? | Contact numbers | Download documents

Dr Robyn Gillies - Head of Malignant Hyperthermia Diagnostic Unit
RMH
10th March 2009

Malignant Hyperthermia (MH) testing is currently available in Melbourne.

The Department of Anaesthesia and Pain Management at the Royal Melbourne Hospital coordinates in vitro contracture testing (IVCT) for appropriate patients at risk of Malignant Hyperthermia.

What is the test for MH?

The IVCT is a functional test of live muscle. The dynamic test is performed in the laboratory of the Department of Anaesthesia and Pain Management at the RMH.

The muscle is connected to force transducers to establish degree of contraction when exposed to halothane and caffeine at different concentrations.

All muscle biopsies must take place either at the Royal Melbourne Hospital (RMH) or the Melbourne Private Hospital. In some circumstances by prior arrangement, biopsies can be done at the Royal Children’s Hospital or hospitals located close to the RMH.

Specimens from other hospitals are not appropriate for IVCT as the time between harvest and IVCT is too long. At least 24 hours notice is required for a biopsy at the RMH, as specialised equipment needs to be set up.

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How is the biopsy performed?

Muscle biopsies are performed under non-triggering general anaesthesia or femoral nerve block. They are performed by a small group of general surgeons to maintain consistent quality. A 3-5cm length, 1cm width piece of muscle is removed from the vastus lateralis muscle. In appropriate circumstances a further piece of muscle is sent for histological analysis if Central Core disease is suspected. The procedure is done as a day case. Biopsies are no longer performed under infiltrative local anaesthesia as this goes against the European Protocol for testing.

How do I find a MH result?

The Department of Anaesthesia and Pain Management maintains a confidential database of malignant hyperthermia patients. Information may be obtained by contacting Dr Robyn Gillies. The database extends to patients tested by Dr Denborough and Dr Moulds from 1970 onwards.

Who should be tested?

Patients who have had a suspected episode of MH should have an IVCT to firmly establish the diagnosis. Any relatives of a person who has tested positive for MH should consider themselves to be positive until proven otherwise, as MH is an autosomal dominant inherited condition. It may not be necessary or appropriate to test all family members and that is a matter left to counselling, which is part of the MH service at the RMH.

Patients with other muscle disorders such as Central Core Disease or Inherited muscular dystrophy may be appropriate for testing.

Children need to be of sufficient size to have a 3-5cm length, 1cm width piece of muscle removed from their Vastus Lateralis. It would be unusual for the MH unit to biopsy anyone under the age of 12.

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How do I organise Testing?

Any enquiries about MH testing should be addressed to Dr Robyn Gillies, staff anaesthetist and coordinator of the MH testing and research unit. If Dr Gillies is absent from the Department, interim enquiries can be directed to Dr Andrew Bjorksten who performs the laboratory test.

What is the availability of genetic testing?

Genetic testing is performed as part of ongoing research into MH at the Royal Melbourne Hospital. It is not yet commercially available in Melbourne.

Contact Numbers:

Dr Robyn Gillies MB BS FANZCA – Staff Anaesthetist
Telephone: (61 3) 9342 7540 or through switchboard (61 3) 9342 7000
Fax: (61 3) 9342 8623
Email: robyn.gillies@mh.org.au
After Hours (urgent enquiries only): 0412 167 707

Dr Andrew Bjorksten PhD
Telephone: (61 3) 9342 7920

For further information visit the Malignant Hyperthermia Australia & New Zealand website.

Download documents

Malignant Hyperthermia Report Form 2009 (115kb, pdf)

Malignant Hyperthermia Report Form 2009 (29kb, pdf)

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