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  • Neurovascular Findings in Children and Young Adults with Loeys-Dietz Syndrome

    Final Number:

    Visish M. Srinivasan MD; Kevin Chiou BS; Michael G. Z. Ghali PhD, MS, BA; Shaine A. Morris M.D., M.P.H.; Sandi Lam MD MBA

    Study Design:

    Subject Category:

    Meeting: Congress of Neurological Surgeons 2017 Annual Meeting

    Introduction: Loeys-Dietz syndrome (LDS) is a recently described autosomal dominant connective tissue disorder resulting from TGF-beta pathway mutations. Manifestations include craniofacial, skeletal, and vascular anomalies (aortic root dilation, neurovascular tortuosity, intracranial aneurysms (IAs), and dissections). Case reports describe unruptured and ruptured IAs in LDS patients. Cerebrovascular screening is thus advised. We present a series of 34 patients with LDS and describe their neurovascular imaging findings.

    Methods: Patients with genetically-confirmed LDS were reviewed for neuroradiology findings. At our institution, multidisciplinary care LDS patients is coordinated by a specialized cardiogenetics clinic, which follows screening recommendations for yearly brain/neck imaging. Magnetic resonance imaging (MRI) and radiology reports were reviewed. Findings were recorded with special attention to detect those reported in the literature, including arterial tortuosity, aneurysms, and dissections. Follow-up examinations and reports were analyzed for disease progression.

    Results: 34 patients were reviewed. Median age was 9.7 years (range 1 week - 34 years); half were male. Mutations included TGBFR1 in 7 (21%), TGBFR2 in 18 (53%), and TGBF2 in 9 (26%). MRI head/neck was available for review in 90%. Average age at first MRI was 12.9 years. 63% showed neurovascular tortuosity. No cerebral aneurysms were visualized. 80% had follow-up MRI for review. 33% of patients with initial and follow-up neurovascular imaging showed new or worsening disease. Patients with worsening or progression (n=6) had either TGBFR1 or TGBFR2 mutations and presented at earlier age (mean 8.3 years). No patients required neurovascular intervention during surveillance.

    Conclusions: LDS is a rare genetic disease with multisystem involvement, including the vascular system. Guidelines recommend yearly surveillance for monitoring of cerebrovascular disease in LDS. Our series suggests less frequent imaging in the pediatric LDS population may be reasonable due to lack of clinically actionable vascular findings. Further study and follow-up is warranted, along with correlation with cardiothoracic disease severity.

    Patient Care: Patients with Loeys-Dietz Syndrome are at an increased risk of development of neurovascular disorders, including aneurysms, dissections, and stenosis. Appropriate screening and understanding of the natural history of their pathology is important to providing appropriate and timely intervention.

    Learning Objectives: By the conclusion of this session, participants should be able to: 1) Describe the classic presentation and pathology of Loeys-Dietz Syndrome 2) Describe the key neurovascular anomalies in LDS 3) Explain the importance of screening and management of neurovascular issues in LDS

    References: Aalberts JJJ, van den Berg MP, Bergman JEH, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J 2008;16:299–304. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005;37(3):275-281. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355(8):788-798. Levitt MR, Morton RP, Mai JC, Ghodke B, Hallam DK. Endovascular treatment of intracranial aneurysms in Loeys-Dietz syndrome. J Neurointerv Surg. 2012 Nov;4(6):e37.

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