Anesthetic Nuances Of A Patient With Acyanotic Congenital Heart Disease And Smith-Lemli-Opitz Syndrome Scheduled For Hypospadias Repair: A Case Report

Abstract

Introduction: Smith-Lemli-Opitz Syndrome (SLOS) is a rare autosomal recessive disorder characterized by defective cholesterol biosynthesis leading to multiple congenital anomalies including central nervous, cardiovascular, and genitourinary malformations. Patients with SLOS pose unique anesthetic challenges including susceptibility to neuromuscular hyperexcitability and malignant hyperthermia-like events.

Main symptoms: A 16-year-old male with SLOS and acyanotic congenital heart disease presented with dribbling of urine diagnosed as hypospadias requiring surgical repair.

Diagnosis, intervention, outcome: He had a small patent ductus arteriosus (PDA) with a left-to-right shunt and stable biventricular function. Anesthesia was successfully managed with total intravenous anesthesia (TIVA) using target-controlled infusion (TCI) of propofol, vecuronium muscle relaxation, and caudal block without complications. The perioperative course was uneventful, and the patient was discharged on post-operative day one.

Conclusion: This case highlights the importance of individualized anesthetic management in SLOS patients with congenital heart disease, avoiding volatile anesthetics and depolarizing muscle relaxants while maintaining cardiovascular stability.