Manejo anestésico ante la sospecha de mutación del gen ND4: propuesta de protocolo de seguridad para la población pediátrica venezolana en entornos de recursos limitados Anesthetic management in the event of suspected ND4 gene mutation: proposed safety protocol for the venezuelan pediatric population in resource-limited settings

ABSTRACT Various international genomic studies have identified a significant prevalence of a maternally inherited mutation in the MT-ND4 gene, which triggers severe post-anesthetic neurotoxicity in pediatric patients of Venezuelan ancestry upon exposure to volatile anesthetics, such as sevoflurane. The lack of universal access to preoperative molecular testing in resource-limited settings represents a critical public health and patient safety challenge. To propose a standardized risk-stratification and perioperative management protocol based on clinical suspicion and maternal lineage to prevent morbidity and mortality. Based on a systematic review of the available evidence, a three-phase algorithm was designed: preoperative screening of maternal family history, intraoperative replacement of volatile agents with Total Intravenous Anesthesia (TIVA), and strict postoperative neurological monitoring for 4 to 6 hours. The protocol establishes a high index of suspicion for all Venezuelan pediatric surgical candidates. Key proposed interventions include the absolute contraindication of sevoflurane, the universal adoption of TIVA in susceptible patients, maintenance of normothermia, optimization of perioperative fasting, continuous neurological monitoring, and timely institutional reporting with referral to genetic counseling. In the absence of accessible genetic screening in Venezuela and its diaspora due to prohibitive costs and turnaround delays, this standardized protocol based on clinical suspicion constitutes the most ethical and practical strategy to mitigate anesthesia-related fatalities, effectively bridging the technological gap in global health.