TY - JOUR
T1 - Neurovascular findings in children and young adults with Loeys-Dietz syndromes
T2 - Informing recommendations for screening
AU - LoPresti, Melissa A.
AU - Ghali, Michael Z.
AU - Srinivasan, Visish M.
AU - Morris, Shaine A.
AU - Kralik, Stephen F.
AU - Chiou, Kevin
AU - Du, Rebecca Y.
AU - Lam, Sandi
N1 - Funding Information:
This work was supported by National Institutes of Health K23HL127266 [to S.A.M.]. The authors declare no conflicts of interest.
Funding Information:
This work was supported by National Institutes of Health K23HL127266 [to S.A.M.]. The authors declare no conflicts of interest.
Publisher Copyright:
© 2019
PY - 2020/2/15
Y1 - 2020/2/15
N2 - Introduction: Loeys-Dietz Syndromes (LDS) are a group of connective tissue disorders associated with vascular abnormalities, including arterial tortuosity, aneurysms, and dissections. While neurovascular involvement is common, no pediatric or young adult recommendations for screening exist. We aimed to review our institution's experience with special focus on neurovascular imaging to better understand the pathology and guide screening. Methods: A retrospective cohort study of patients with LDS was performed. Demographics, genetic subtype, clinical and radiographical data were analyzed. Primary outcome measures included pathology on neurovascular imaging, time to progression, and arterial tortuosity indexes for bilateral cervical internal carotid arteries (ICA) and vertebral arteries (VA). Results: Of 47 patients with LDS identified, 39 (83.0%) were found to have neuroimaging. Intracranial and cervical vascular tortuosity were seen in 79.5% and 64.1%, respectively. Twenty-one patients (44.7%) received follow-up screening, of which 3 were found to have progression. Time to progression was an average of 2.1 years. Average follow-up was 607 days (range 123–3070 days). Mean Arterial Tortuosity Index for the right ICA, left ICA, right VA, and left VA were 18, 20, 49, and 47, respectively. Comparison of interval percent change in Arterial Tortuosity Index over the course of follow-up demonstrated small changes in the right ICA (mean 5%), left ICA (mean 1%), right VA (mean 1%), and left VA (mean 2%). Conclusions: Arterial tortuosity was most prevalent, though it did not progress significantly over time. We suggest an algorithm for management and serial screening to guide management of pediatric and young adults with LDS.
AB - Introduction: Loeys-Dietz Syndromes (LDS) are a group of connective tissue disorders associated with vascular abnormalities, including arterial tortuosity, aneurysms, and dissections. While neurovascular involvement is common, no pediatric or young adult recommendations for screening exist. We aimed to review our institution's experience with special focus on neurovascular imaging to better understand the pathology and guide screening. Methods: A retrospective cohort study of patients with LDS was performed. Demographics, genetic subtype, clinical and radiographical data were analyzed. Primary outcome measures included pathology on neurovascular imaging, time to progression, and arterial tortuosity indexes for bilateral cervical internal carotid arteries (ICA) and vertebral arteries (VA). Results: Of 47 patients with LDS identified, 39 (83.0%) were found to have neuroimaging. Intracranial and cervical vascular tortuosity were seen in 79.5% and 64.1%, respectively. Twenty-one patients (44.7%) received follow-up screening, of which 3 were found to have progression. Time to progression was an average of 2.1 years. Average follow-up was 607 days (range 123–3070 days). Mean Arterial Tortuosity Index for the right ICA, left ICA, right VA, and left VA were 18, 20, 49, and 47, respectively. Comparison of interval percent change in Arterial Tortuosity Index over the course of follow-up demonstrated small changes in the right ICA (mean 5%), left ICA (mean 1%), right VA (mean 1%), and left VA (mean 2%). Conclusions: Arterial tortuosity was most prevalent, though it did not progress significantly over time. We suggest an algorithm for management and serial screening to guide management of pediatric and young adults with LDS.
KW - Arterial tortuosity
KW - Connective tissue disorders
KW - Loeys-dietz syndrome
KW - Neuroimaging
KW - Vascular genetics
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U2 - 10.1016/j.jns.2019.116633
DO - 10.1016/j.jns.2019.116633
M3 - Article
C2 - 31862516
AN - SCOPUS:85076493261
SN - 0022-510X
VL - 409
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
M1 - 116633
ER -