title: Malignant hyperthermia susceptibility confirmed in both parents of probands. A report of three Austrian families.
abstract: From 1976 to 1986, 79 cases of suspected malignant hyperthermia (MH) were reported to the authors' institution. A total of 233 muscle biopsies was done in 66 families. The mother and father of the proband were investigated in 44 families; in three of these, both parents of probands gave positive test results. These three families, all from Vorarlberg, a secluded mountain area, represent 4.5% of all our MH-positive families (n = 61) and 7.3% of all MH-positive families where both parents had been tested (n = 41). This observation might be explained by: 1) a much higher incidence of MH in this part of Austria, and 2) a different test policy, as at the authors' institution, if possible, both parents are investigated, even if there is a positive test result in one of them. It is concluded that family investigations of MH susceptibility should always include both parents of a proband.
authors.affiliation: Ludwig Boltzmann Institute for Experimental Anesthesiology and Intensive Care Research, Vienna, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Mauritz
authors.forename: P
authors.initials: P
authors.lastname: Sporn
authors.forename: K
authors.initials: K
authors.lastname: Steinbereithner
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D010290:Parents