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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis

L. Spinardi, G. Vornetti, S. De Martino, R. Golfieri, L. Faccioli, M. Pastore Trossello, C. Graziano, E. Mariucci and A. Donti
American Journal of Neuroradiology October 2020, 41 (10) 1916-1922; DOI: https://doi.org/10.3174/ajnr.A6732
L. Spinardi
aFrom the Neuroradiology Unit (L.S., L.F., M.P.T.)
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G. Vornetti
bRadiology Unit (G.V., S.D.M., R.G.)
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S. De Martino
bRadiology Unit (G.V., S.D.M., R.G.)
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R. Golfieri
bRadiology Unit (G.V., S.D.M., R.G.)
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L. Faccioli
aFrom the Neuroradiology Unit (L.S., L.F., M.P.T.)
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M. Pastore Trossello
aFrom the Neuroradiology Unit (L.S., L.F., M.P.T.)
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C. Graziano
cDepartment of Experimental, Diagnostic and Specialty Medicine, the Department of Medical Genetics (C.G.)
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E. Mariucci
dPediatric Cardiology and GUCH Unit (E.M., A.D.), Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy
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A. Donti
dPediatric Cardiology and GUCH Unit (E.M., A.D.), Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy
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  • FIG 1.
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    FIG 1.

    The TI measurement on 3D volume-rendered TOF-MRA. The solid black line indicates the centerline length, whereas the dashed gray line shows straight-line length. A, Superior view of A1 and M1 segments in a patient with LDS (all anterior cerebral artery segments distal to A2 have been removed; white arrowhead, anterior communicating artery; black arrowhead, right M1–M2 bifurcation). B, Lateral view of the right IICA in a patient with LDS (white arrows, level of the inferior opening of the carotid canal). C, Anterior view of VBS in a patient with Marfan syndrome (white arrows, level of the foramen magnum).

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    FIG 2.

    Boxplots of the TI of the 4 examined arterial segments for controls and patients with Marfan syndrome (MS) and LDS.

  • FIG 3.
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    FIG 3.

    Examples of different degrees of tortuosity of IICA and VBS. A–C, Lateral view of the right IICA in a control (A), in a patient with Marfan syndrome (B), and in a patient with LDS (C). D–F, Anterior view of VBS in a control (D), in a patient with MS (E), and in a patient with LDS (F).

  • FIG 4.
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    FIG 4.

    Receiver operating characteristic curves for the intracranial TI, with the outcome of LDS versus Marfan syndrome and CTD versus controls. Dashed gray line indicates the A1 TI; solid gray line, M1 TI; dashed black line, IICA TI; and solid black line, VBS TI.

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    Table 1:

    Demographic and clinical characteristics of patients with CTD

    CharacteristicCTD (N = 68)Marfan Syndrome (n = 36)LDS (n = 32)P
    Age at MRA, median (IQR), y38.5 (23–48)32.5 (25–43.5)42 (22–50).21
    Female, n (%)33 (48.5)15 (41.7)18 (56.3).33
    Aortic root dilation, n (%)59 (86.8)33 (91.7)26 (81.3).29
    Aortic dissection, n (%)9 (13.2)6 (16.7)3 (9.4).48
    Arterial dissection, n (%)4 (5.9)0 (0.0)4 (12.5).04
    Aortic surgery, n (%)41 (60.3)25 (69.4)16 (50.0).14
    Age at surgery, median (IQR), y28 (20–37)26 (21–35)33 (18–44).47
    • View popup
    Table 2:

    The intracranial TI in patients with CTD and the controls

    Intracranial TI, median (IQR)P
    Controls (n = 52)Marfan Syndrome (n = 36)LDS (n = 32)Marfan Syndrome vs ControlsLDS vs ControlsLDS vs Marfan Syndrome
    A19 (6–12)11.5 (8–16)15.5 (11–21).02<.001.02
    M15 (1–7)11.5 (6–22)12.5 (6–21)<.001<.001.92
    IICA97 (80.5–110)123.5 (105–144)141.5 (123–160.5)<.001<.001.06
    VBS12 (9–19)28.5 (20–36)52 (32–73.5)<.001<.001<.001
    • View popup
    Table 3:

    Multivariate model for LDS versus Marfan syndrome by TI and age

    ORa95% CIaP
    A11.610.73–3.93.26
    VBS1.681.25–2.44.002
    Age1.220.86–1.77.28
    • ↵a Computed for a 10-unit increase of the variable.

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American Journal of Neuroradiology: 41 (10)
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L. Spinardi, G. Vornetti, S. De Martino, R. Golfieri, L. Faccioli, M. Pastore Trossello, C. Graziano, E. Mariucci, A. Donti
Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis
American Journal of Neuroradiology Oct 2020, 41 (10) 1916-1922; DOI: 10.3174/ajnr.A6732

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Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis
L. Spinardi, G. Vornetti, S. De Martino, R. Golfieri, L. Faccioli, M. Pastore Trossello, C. Graziano, E. Mariucci, A. Donti
American Journal of Neuroradiology Oct 2020, 41 (10) 1916-1922; DOI: 10.3174/ajnr.A6732
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