Sage Journals: Discover world-class research

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.

Keywords

Loeys-Dietz syndrome dural arteriovenous fistula endovascular therapy

Get full access to this article

View all access options for this article.

References

Loeys

Chen

Neptune

. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275–281.

Morisaki

. Loeys-Dietz syndrome. Pediatric Cardiology and Cardiac Surgery 2005; 30: 232–238.

Rodrigues

Elsayed

Loeys

. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 2009; 30: 1614–1619.

Rahme

Adel

Bendok

. Association of intracranial aneurysm and Loeys-Dietz syndrome: Case illustration, management, and literature review. Neurosurgery 2011; 69: E488–E492. discussion E492–E483.

Katsuno

Banno

Suzuki

. TGF-beta signaling in neurodegenerative diseases. Rinsho Shinkeigaku 2011; 51: 982–985.

Mizuguchi

Collod-Beroud

Akiyama

. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 2004; 36: 855–860.

van den Driesche

Mummery

Westermann

. Hereditary hemorrhagic telangiectasia: An update on transforming growth factor beta signaling in vasculogenesis and angiogenesis. Cardiovasc Res 2003; 58: 20–31.

Boileau

Guo

Hanna

. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet 2012; 44: 916–921.

Gupta

Periakaruppan

. Intracranial dural arteriovenous fistulas: A review. Indian J Radiol Imaging 2009; 19: 43–48.

10.

Maher

Piepgras

Brown

Jr . Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 2001; 32: 877–882.

11.

Horowitz

Purdy

Valentine

. Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos syndrome. AJNR Am J Neuroradiol 2000; 21: 974–976.

12.

Kellner

Sussman

Donaldson

. Cerebral arterial angioplasty in a patient with Loeys-Dietz syndrome. J Neurointerv Surg 2015; 7: e2.

13.

Colby GP, Lin LM, Zeiler SR, et al. Curative reconstruction of a cerebral aneurysm by flow diversion with the Pipeline embolisation device in a patient with Loeys-Dietz syndrome. BMJ Case Rep 2014; 2014.

14.

Levitt

Morton

Mai

. Endovascular treatment of intracranial aneurysms in Loeys-Dietz syndrome. J Neurointerv Surg 2012; 4: e37.

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