Wednesday April 23rd 2025 - Retreat Boma area

15:00-17:00 Optional movie in cinema room: The Octopus Teacher
17:00-19:00EMHG EC meeting (part 1)
19:00-19:30Ingoma Youth Choir and welcoming at Retreat
19:30-22:00Dinner for all participants and accompanying persons

Thursday April 24th 2025 - Retreat Conference Centre

1
08:15-09:15EMHG EC meeting - contd.
09:15-09:30Meeting registration
09:30-09:35Welcome and Introduction
09:35-10:15Guest Speaker Dr Alvin Ndondo Paediatric Neurology Red Cross War Memorial Children’s Hospital: RyR1 Myopathies in kids
10:15-10:45 Session 1: Diana Bendixen and Martina Klincova
10:15-10:30Dr Hannah Brand: STAC3 disorder: a common cause of congenital myopathy in Southern African patients.
10:30-10:45 Dr Rafaela Souza: Lightening strike twice in the same place: Mitochondrial myopathy and MH-Case report
10:45-11:15 Coffee break
11:15-12:30 Session 2: Robin Gillies and Oscar Diaz-Cambironiero
11:15-11:30 Prof Phil Hopkins : Human phenotype ontology terms relevant to Malignant Hyperthermia
11:30-11:45 Dr Carlos Ibarra Moreno: Metabolomic and lipidomic fingerprints of malignant hyperthermia susceptibility in human skeletal muscle
11:45-12:15 Dr Sebastian Heiderich: Activated charcoal filters for fast elimination of inspiratory sevoflurane during paediatric anaesthesia. Preliminary data of a prospective interventional study.
12:15-12:30 Anabel Marques-Mari: Unravelling diagnostic metabolic signatures of Malignant Hyperthermia: Insights from porcine and human skeletal muscles
12:30-14:00Lunch
14:00-14:30Guest Speaker: Dr Richard Burroughs Veterinary Surgeon Capture myopathy- an unintended hazard of working with wildlife.
14:30-15:30Session 3: Henrik Rüffert and Stephan Jonhanssen
14:30-14:45 Dr Rafaela Souza: Risk factors of adverse events in anaesthesia for patients with mitochondrial disease
14:45-15:00 Dr Helga Silva: Scoliosis and Malignant Hyperthermia
15:00-15:15 Maria Norén: Patients’ perceptions of muscle biopsy and malignant hyperthermia investigation, from referral to diagnosis- a quantitative survey study
15:15-15:30 Dr Mary Silva: The natural course of a MHS patient with pathogenic RyR1 variant evaluated with a cardiopulmonary exercise test
15:30-16:00Coffee break
16:00-16:45Session 4: Anna Hellblom and Klaus Glahn
16:00-16:15 Prof Darlene Mashman: Use of calcium to treat hyperkalemia during a MH crisis: review of international recommendations
16:15-16:30 Dr Robyn Gillies: Referrals to the Royal Melbourne hospital diagnostic MH unit
16:30-17:00 Dr Stephan Johannsen chair : IVCT Questions and Answers
17:30-19:00Wine Tasting
19:00-22:00Gala Dinner

Friday May 27th 2025 - Retreat Conference Centre

08:30-09:10Guest Speaker Dr Ettiene Coetzee University of Cape Town: EEG-guided TIVA/TCI anaesthesia
09:10-10:00Session 5: Carlos Ibarra and Phil Hopkins
09:10-09:30Erik-Jan Kamsteeg: EMQN Best Practice Guidelines for Genetic testing and reporting in RyR1- related disorders
09:30-09:45 Prof Phil Hopkins: MYH1 variants in MH susceptible individuals
09:45-10:00 Catherine Daly: Using exome sequencing to investigate phenotype-genotype discordance in the UK MH population
10:00-10:40 Coffee break
10:30-11:45 Board of Directors Meeting (on invitation only)
11:45-12:30Session 6: Carlos Ibarra and Jonathan Bilmen
11:45-12:00 Dr Helga Silva: Genetic characteristics of Brazilian MH patients
12:00-12:15 Dr Katharina Lichtenberger: Evaluation of genetic variants in the RyR1, CACNA1S and STAC3 genes to estimate the genetic prevalence with data from the Leipzig Institute of human genetics.
12:15-12:30 Prof Phil Hopkins: Some observations on RyR1 variant prevalence and clinical incidence of MH in the UK
12:30-14:00 Lunch
14:00-15:15Session 7: Terasa Bulger and Erik-Jan Kamsteeg
14:00-14:15 Dr Mariz Vainof: Rare insertion in the RyR1 gene causing Malignant Hyperthermia in a familial case with clinical variability
14:15-14:30 Dr Martina Klincova Malignant Hyperthermia in Slovonic cohort- the “grey” zone of RyR1 VUS
14:30-14:45 Dr Cezar Souza: Cost-efficiency of genetic screening for Malignant Hyperthermia susceptibility
14:45-15:00 Dr Benedikt Lother: Influence of genetic testing on IVCT results-a retrospective analysis
15:00-15:15 Prof Phil Hopkins: Variant-specific association between risk of clinical reactions and IVCT responses
15:15-15:30 Coffee break
15:30-17:00 Final Session 8
15:30-16:00 MH Counselling Questions and Answers
16:00-17:00 Annual General Meeting of the EMHG & Award of Prizes
17:00Close of Meeting
18:00-22:00 Optional Dinner at Haute Cabriere