Remimazolam-Based Total Intravenous Anesthesia for Cardiac Surgery in an Infant With a Pathogenic RYR1 Variant

The ryanodine receptor 1 (RYR1) gene encodes a protein channel located on the terminal cisternae of the sarcoplasmic reticulum of skeletal muscle, thereby playing a key role in regulation of skeletal muscle contraction. RYR1 gene mutations may result in inherited neuromuscular conditions with a wide range of clinical manifestations including profound hypotonia, proximal muscle weakness, facial weakness, respiratory involvement, and orthopedic disorders (scoliosis, hip dislocation, and arthrogryposis). Affected individuals may also be malignant hyperthermia susceptible. We present an infant with RYR1 gene mutation who presented for anesthetic care during cardiac surgery for congenital heart disease. The clinical spectrum of RYR1 gene mutation disorders is presented, previous reports of anesthetic care reviewed, and options for perioperative care discussed.