Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report.

ABSTRACT:

Introduction

Malignant hyperthermia (MH) is a rare autosomal dominant pharmacogenetic disorder which known associated with some genes such as CACNA1S and RYR1. Using whole exome analysis, we aimed to find out the genetic variant data in a malignant hyperthermia patient undergoing cardiac surgery.

Presentation of case

Patient was 59 years old male with dull left chest pain, mild breathing difficulty, thrombosis in the left atrium, mitral valve stenosis that needed a surgery to remove the thrombus and replace the mitral valve. After 5-h operation of left mitral heart valve replacement using both intravenous and inhaled anaesthetics, the patient showed suddenly hyperthermia (39.5 °C), low blood pressure (90/50 mmHg), heavy sweating, 1 mm dilated pupils on both sid

SUBMITTER: Nguyen TT 

PROVIDER: S-EPMC6849130 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature