Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review

Abstract

Introduction: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder associated with aortic aneurysm/dissection in children. However, LDS may also present with a host of orthopaedic conditions. This study aimed to elucidate the management of orthopaedic conditions and associated outcomes in patients with LDS. Methods: PubMed, Ovid MEDLINE, and Cochrane Library were systematically searched for primary articles regarding the management of orthopaedic conditions in patients with LDS. The goals and findings of each included study were described. Data regarding demographics, conditions studied, treatment modalities, and outcomes were extracted and analyzed. Results: Three hundred sixty-two unique articles were retrieved, 13 of which were included, with 4 retrospective cohort studies and 9 case reports representing 435 patients. In total, 19.8% of patients presenting with orthopaedic conditions received surgical treatment;54.3% of them experienced adverse outcomes, and 44.4% required revision surgery. The mean age at surgery was 9.0 ± 2.1 years. Conclusion: Patients with LDS may require early surgical intervention for a variety of orthopaedic conditions and may be at an increased risk for surgical complications. The current LDS literature is primarily focused on spinal conditions with a relative paucity of data on the management of hip deformity, joint subluxation, clubfoot, and trauma. Additional research is required regarding orthopaedic management for this unique population.

Spondyloptosis in Loeys‐Dietz syndrome

“…LDS is a rare connective tissue disorder that results in altered skeletal development, widespread aneurysms, and craniofacial abnormalities due to misregulation of transforming growth factor beta 2 . Skeletal abnormalities include lower bone mineral density, pectus deformity, joint laxity, scoliosis, and cervical spine instability 3 . Importantly, individuals with LDS have a threefold higher risk of spondylolisthesis than the general population 4 .…”

“…Spondyloptosis and surgical treatment for correction puts patients at increased risk of neurologic injury due to severity of malalignment, especially if they have a connective tissue disease such as LDS 3,5 . Risk could be mitigated by earlier identification and intervention.…”

“…2 Skeletal abnormalities include lower bone mineral density, pectus deformity, joint laxity, scoliosis, and cervical spine instability. 3 Importantly, individuals with LDS have a threefold higher risk of spondylolisthesis than the general population. 4 They tend to present at a younger age (11 years on average) with most presenting at grade 3 spondylolisthesis or greater.…”

“…Spondyloptosis and surgical treatment for correction puts patients at increased risk of neurologic injury due to severity of malalignment, especially if they have a connective tissue disease such as LDS. 3,5 Risk could be mitigated by earlier identification and intervention. This case demonstrates the importance of vigilant spine surveillance with physical examination, radiographs, and prompt surgical referral in the high-risk population of adolescents and teenagers with LDS.…”