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Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.

Abstract

Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization. Because of tortuosity of vertebral arteries, a genetic test was conducted confirming LDS type 2. Conclusions To our knowledge, this is the first case report of dAVF associated with LDS. The relationship between LDS and dAVF is unknown but this report shows the possibility that mutation of transforming growth factor β receptors 2 ( TGFBR2) related to LDS may be related to shunt diseases. Because intervention in LDS seems to be feasible compared to Ehlers Danlos syndrome and Marfan syndrome, it is important to make the correct diagnosis.

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  • Authors+Show Affiliations

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    1 Tokai University, Japan.

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    1 Tokai University, Japan.

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    1 Tokai University, Japan.

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    1 Tokai University, Japan.

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    1 Tokai University, Japan.

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    1 Tokai University, Japan.

    2 Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan. 3 Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.

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    Pub Type(s)

    Journal Article

    Language

    eng

    PubMed ID

    28304197