Anästhesie bei einer thoraxchirurgischen Patientin mit kongenitaler Muskeldystrophie Typ Ullrich

Ullrich congenital muscular dystrophy (UCMD) is a rare disease caused by mutations in the COL6A1, COL6A2 or COL6A3 genes leading to deficiency of collagen VI in extracellular matrices (ECM). Patients present with generalized muscle weakness, predominantly in the trunk and proximal limbs, hyperlaxity of distal joints, spinal rigidity, scoliosis and various proximal joint contractures, loss of ambulation by 9–11 years of age and progressive respiratory dysfunction. About 50% of the patients require noninvasive ventilation (NIV) by the age of 11–12 years. We report about a female patient (age 21 years) with severe UCMD. After decompression of spontaneous pneumothorax, a major subpleural hematoma of the left lower lobe emerged necessitating video-assisted thoracoscopic surgery (VATS). Anesthesiological aspects, including underlying disease, comorbidities, airway management for one-lung ventilation and choice of anesthetics for patients with muscular dystrophy are discussed. The clinical course during anesthesia, surgery and postoperatively was uneventful and the patient was discharged 7 days after VATS.