Management of Cervical Kyphotic Deformity Associated With Loeys-Dietz Vasculopathy and Cardiac Transplantation: Case Report, Literature Review, and Strategies for Complex Skeletal Dysplasias

Abstract

Seventy-six percent of pediatric patients with Loeys-Dietz syndrome (LDS), a connective tissue disorder driven by a transforming growth factor-beta (TGF-B) pathway mutation, manifest cervical spine malformations. A prior series showed that 16% required surgical stabilization. Spine surgery in LDS is associated with an 88% complication rate due to poor bone quality and cerebrovascular ectasia. Of 77 patients with LDS, one patient who required spine surgery was identified in an institutional database from 2010 to 2020. A 15-year-old with LDS presented with symptomatic cervical myelopathy from a rapidly progressive and unstable cervical deformity. We performed a C5-6 corpectomy and an O-T2 posterior spinal fusion with recombinant human bone morphogenetic protein-2 (rhBMP-2). We achieved correction of her kyphosis and normalization of her neurologic status. She is neurologically well one year postoperatively with bony fusion. The management of a pediatric patient with LDS, orthotopic heart transplantation (OHT), and craniocervical deformity with instability is a novel challenge. Long-segment constructs are beneficial, rather than sparing the occiput or cervicothoracic junction. Off-label BMP may aid an LDS patient with TGF-B mutation and sternotomy. Surgeons should continue immunomodulatory and antiplatelet medications when required for OHT.