Genetic Characteristics of Brazilian Patients with MH History.

ABSTRACT:

Background/objectives

Malignant hyperthermia (MH) is a pharmacogenetic hypermetabolic syndrome triggered by halogenated agents/succinylcholine. Most families present variants in the RYR1 and, rarely, in other genes (CACNA1S/STAC3/ASPH). However, each country or region presents differences in the type and frequency of MH variants.

Objective

To present the genetic characteristics of Brazilian individuals with MH history.

Methods

We reviewed clinical and laboratory data from all families referred for evaluation in the Brazilian MH unit due to a personal or family history of MH during anesthesia. Demographic and clinical data were collected, as well as serum creatine kinase (CK) levels, in vitro contracture test (IVCT) results, and the results

SUBMITTER: Silva HCA 

PROVIDER: S-EPMC12562892 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature