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

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Congenital heart disease with pathogenic RYR1 variant (n=1). Intervention: Remimazolam-based total intravenous anesthesia. Primary outcome: Occurrence of malignant hyperthermia.

Q: What does this research mean for the field?

Remimazolam-based total intravenous anesthesia can be successfully and safely utilized for cardiac surgery in infants with pathogenic RYR1 variants. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Lily Lindemann; Peter Winch; Brittany L. Willer; Joseph D. Tobias

doi:10.14740/jmc5405

October 2, 2026Journal of Medical CasesOpen Access

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

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Key result

Remimazolam-based TIVA avoids malignant hyperthermia during infant cardiac surgery in high-risk RYR1 mutation.

n=1

Why the study?

RYR1 gene mutations cause inherited neuromuscular conditions with malignant hyperthermia susceptibility, complicating anesthetic care during cardiac surgery.

Key Points

To describe the perioperative anesthetic management of an infant with congenital heart disease and a pathogenic RYR1 variant using remimazolam-based total intravenous anesthesia.
Conducted total intravenous anesthesia (TIVA) using remimazolam while strictly avoiding volatile anesthetics and succinylcholine during cardiac surgery in an infant with a pathogenic RYR1 mutation.
Synthesized current literature regarding RYR1 mutations, malignant hyperthermia susceptibility, and emerging clinical experiences with remimazolam in pediatric anesthesia.
Remimazolam provided hemodynamic stability and effective anesthesia without triggering malignant hyperthermia during the surgical repair.
The infant experienced acute respiratory decompensation with desaturation, bradycardia, and hypotension approximately 30 min after arrival in the intensive care unit, responding to bag-valve-mask ventilation, 1 µg/kg of epinephrine, and tracheal reintubation.
The trachea was successfully extubated to high-flow nasal cannula later that day, though underlying hypotonia and feeding difficulties contributed to a prolonged hospital course.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

P

Population

A 2-month-old male infant with a pathogenic RYR1 variant and congenital heart disease who underwent pulmonary artery banding.

I

Intervention

Remimazolam-based total intravenous anesthesia (TIVA) (continuous infusion 10 µg/kg/min) along with remifentanil and dexmedetomidine, avoiding volatile anesthetics and succinylcholine.

Remimazolam-based total intravenous anesthesia may be a safe, non-triggering option for infants with RYR1 mutations and malignant hyperthermia susceptibility undergoing cardiac surgery.

Limitations

Single anecdotal case report
Limited clinical data with remimazolam dosing parameters in the pediatric population
Use of remimazolam in malignant hyperthermia susceptible patients remains anecdotal with a limited number of case reports
Clinical data with remimazolam dosing parameters in the pediatric population remain limited

Implication

May support remimazolam in RYR1 infants for cardiac surgery; hypothesis-generating and leaves open confirmation in larger studies.

Abstract

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.

Discussion

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Cite This Study

Lindemann et al. (2026) conducted a case report in Congenital heart disease with pathogenic RYR1 variant (n=1). Remimazolam-based total intravenous anesthesia was evaluated on Occurrence of malignant hyperthermia. Remimazolam-based total intravenous anesthesia was successfully used without triggering malignant hyperthermia in a 2-month-old infant with a pathogenic RYR1 variant undergoing cardiac surgery.

synapsesocial.com/papers/6ac1ab93cc6172083c9289dc https://doi.org/10.14740/jmc5405

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

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Study Design

Structured PICO

Limitations

Implication

Abstract

Discussion

Cite This Study

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