A Case Study on Anesthesia for Percutaneous Closure of Large Secundum ASD in a Patient with Nemaline Myopathy Type

Nemaline myopathy (NM) is a rare condition affecting the skeletal muscles and is associated with one in 50,000 live births.Genetic mutations cause this disorder, with the nebulin gene (NEB) being the primary cause of NM.The mutations occur sporadically or can be inherited through autosomal recessive or dominant patterns.NM symptoms vary with severity, including motor problems, body weakness, scoliosis, hypotonia, breathing difficulties and respiratory infections.This case study investigates a 5-year-old girl diagnosed with an atrial septal defect (ASD) and other conditions associated with NM.Thorough family history, genetic and blood testing, she was appropriately diagnosed with nemaline myopathy type 2, represented by a case of ASD.This case study examines anaesthesia's effect in treating ASD in a rare nemaline myopathy type 2 (NEM2) case.The comorbidities led to using different medications in the percutaneous closure of the ASD by a device.