Patient referral criteria

The following are the most common reasons for referral for investigation of MH susceptibility:

  1. Family history of malignant hyperthermia.
  2. Adverse reaction to general anaesthesia where a trigger agent has been used, involving any combination of signs of increased metabolism (unexplained increase in carbon dioxide production, tachycardia, temperature increase<s>)</s>, muscle rigidity, rhabdomyolysis, disseminated intravascular coagulation and/or death. Initial signs should be evident during anaesthesia or within 60 minutes of discontinuation of anaesthesia.
  3. Family history of unexplained perioperative death.
  4. Postoperative rhabdomyolysis after clinical exclusion of other myopathies.
  5. Exertional rhabdomyolysis / recurrent rhabdomyolysis or persistently raised serum creatine kinase concentration of unknown cause (idiopathic hyperCKaemia) where no cause has been identified following neurological work-up.
  6. Exertional heat stroke requiring hospital admission, where known predisposing factors have been excluded.
  7. Myopathy and detection of an uncharacterised, rare, potentially pathogenic RYR1variant.