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.

Figure 1

Three-dimensional CT angiograms showing (A) 4.7 × 4.0-cm dilatation of the aortic root, 3.9-cm aneurysm of the ascending aorta, and 4.4 × 3.1-cm aneurysm of the right subclavian artery in an 18-year-old woman with Loeys-Dietz syndrome and (B) 5-mm aneurysm of the right internal carotid artery, occlusion of the right vertebral artery, and marked tortuosity of the internal carotid arteries in the same patient at age 25 years.

Figure 2

Photographs demonstrating characteristic features of Loeys-Dietz syndrome: (A) hypertelorism, down-slanting palpebral fissures, amblyopia, and translucent skin in a 5-year-old girl, (B) bifid uvula in a 31-year-old woman, and (C) arachnodactyly in a 24-year-old man. (B and C) Adapted from Bertoli-Avella AM, Gillis E, Morisaki H, et al. Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. J Am Coll Cardiol 2015;65 (13):1324-1336. Adaptations are themselves works protected by copyright. So in order to publish this adaptation, authorization must be obtained both from the owner of the copyright in the original work and from the owner of copyright in the translation or adaptation.

Figure 3

Preferred Reporting Items for Systematic Reviews and Meta-Analyses flow diagram showing systematic literature search for orthopaedic management of Loeys-Dietz syndrome.

Figure 4

A, AP and (B) lateral radiographs of a 19-year-old woman with Loeys-Dietz syndrome who underwent T2-L2 anterior spinal fusion with posterior fixation at age 6 years.

Figure 5

A, AP and (B) lateral radiographs demonstrating clubfoot deformity in a 10-month-old girl with Loeys-Dietz syndrome.

Figure 6

AP radiographs of the left hip in a female patient with Loeys-Dietz syndrome (A) at age 12 years showing flattening of the femoral head and shallow acetabulum and (B) at age 25 years showing chronic bony remodeling and severe osteoarthritis of the hip joint.