Association of intracranial aneurysm and Loeys-Dietz syndrome: Case illustration, management, and literature review

Neurosurgery

Volumn 69, Issue 2, 2011, Pages

  Rahme, Rudy J ^a   Adel, Joseph G ^a   Bendok, Bernard R ^a   Bebawy, John F ^a   Gupta, Dhanesh K ^a   Batjer, H Hunt ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Adenosine; Connective tissue disease; Intracranial aneurysm; Loeys Dietz Syndrome

Indexed keywords

ADENOSINE; INDOCYANINE GREEN;

ADULT; ANEURYSM CLIP; AORTA ANEURYSM; ARTERY DISSECTION; ARTERY RUPTURE; BLOOD VESSEL INJURY; CAROTID ARTERY ANEURYSM; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONNECTIVE TISSUE DISEASE; CRANIOTOMY; DISEASE ASSOCIATION; FEMALE; FUNNEL CHEST; GENE MUTATION; GENETIC SCREENING; HUMAN; INCIDENTAL FINDING; INDOCYANINE GREEN ANGIOGRAPHY; INTERNAL CAROTID ARTERY; INTERNAL CAROTID ARTERY ANEURYSM; INTRACRANIAL ANEURYSM; LOEYS DIETZ SYNDROME; MAGNETIC RESONANCE ANGIOGRAPHY; MARFAN SYNDROME; OPHTHALMIC ARTERY; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; RAYNAUD PHENOMENON; REVIEW; SURGICAL RISK; VASCULAR PATENCY;

CAROTID ARTERY DISEASES; CRANIOTOMY; FEMALE; HUMANS; INTRACRANIAL ANEURYSM; LOEYS-DIETZ SYNDROME; MAGNETIC RESONANCE ANGIOGRAPHY; YOUNG ADULT;

EID: 79960342409     PISSN: 0148396X     EISSN: None     Source Type: Journal    
DOI: 10.1227/NEU.0b013e318218cf55     Document Type: Review

References (30)

1. 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.
2. Milewicz DM, Guo DC, Tran-Fadulu V, et al. Genetic basis of thoracic aortic aneurysms and dissections: Focus on smooth muscle cell contractile dysfunction. Annu Rev Genomics Hum Genet. 2008;9:283-302.
3. 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.
4. Aalberts JJ, van den Berg MP, Bergman JE, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J. 2008;16(9):299-304.
5. Watanabe Y, Sakai H, Nishimura A, et al. Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. Am J Med Genet A. 2008;146A(23):3070-3074.
6. Goumans MJ, Liu Z, ten Dijke P. TGF-beta signaling in vascular biology and dysfunction. Cell Res. 2009;19(1):116-127.
7. Zanotti G, Vricella L, Cameron D. Thoracic aortic aneurysm syndrome in children. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2008:11-21.
8. Yetman AT, Beroukhim RS, Ivy DD, Manchester D. Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period. Pediatrics. 2007;119(5): E1199-e1202.
9. Viassolo V, Lituania M, Marasini M, et al. Fetal aortic root dilation: A prenatal feature of the Loeys-Dietz syndrome. Prenat Diagn. 2006;26(11): 1081-1083.
10. Johnson PT, Chen JK, Loeys BL, Dietz HC, Fishman EK. Loeys-Dietz syndrome: MDCT angiography findings. AJR Am J Roentgenol. 2007;189(1):W29-W35.
11. Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys- Dietz: A new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg. 2007;83(2):S757-S763; discussion S785-S790.
12. Horowitz MB, Purdy PD, Valentine RJ, Morrill K. Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos Syndrome. AJNR Am J Neuroradiol. 2000;21(5):974-976.
13. Lim SP, Duddy MJ. Endovascular treatment of a carotid dissecting pseudoaneurysm in a patient with Ehlers-Danlos syndrome type IV with fatal outcome. Cardiovasc Intervent Radiol. 2008;31(1):201-204.
14. Usinskiene J, Mazighi M, Bisdorff A, Houdart E. Fatal peritoneal bleeding following embolization of a carotid-cavernous fistula in Ehlers-Danlos syndrome type IV. Cardiovasc Intervent Radiol. 2006;29(6):1104-1106.
15. Batjer HH, Kopitnik TA, Giller CA, Samson DS. Surgery for paraclinoidal carotid artery aneurysms. J Neurosurg. 1994;80(4):650-658.
16. Parkinson RJ, Bendok BR, Getch CC, et al. Retrograde suction decompression of giant paraclinoid aneurysms using a No. 7 French balloon-containing guide catheter. Technical note. J Neurosurg. 2006;105(3):479-481.
17. Batjer HH, Samson DS. Retrograde suction decompression of giant paraclinoidal aneurysms. Technical note. J Neurosurg. 1990;73(2):305-306.
18. Thorell W, Rasmussen P, Perl J, Masaryk T, Mayberg M. Balloon-assisted microvascular clipping of paraclinoid aneurysms. Technical note. J Neurosurg. 2004;100(4):713-716.
19. Steiger HJ, Lins F, Mayer T, Schmid-Elsaesser R, Stummer W, Turowski B. Temporary aneurysm orifice balloon occlusion as an alternative to retrograde suction decompression for giant paraclinoid internal carotid artery aneurysms: Technical note. Neurosurgery. 2005;56(2 suppl):E442; discussion E442.
20. Furlong J, Kurczynski TW, Hennessy JR. New Marfanoid syndrome with craniosynostosis. Am J Med Genet. 1987;26:599-604.
21. Ades LC, Sullivan K, Biggin A, et al. FBN1, TGFBR1, and the Marfancraniosynostosis/ mental retardation disorders revisited. Am J Med Genet A. 2006;140(10):1047-1058.
22. Lacombe D, Battin J. Marfanoid features and craniosynostosis: Report of one case and review. Clin Dysmorphol. 1993;2(3):220-224.
23. Shah AM, Chattopadhyay A, Kher A, Bharucha BA, Karapurkar AP. Craniosynostosis with Marfan syndrome, hand and foot anomalies. Clin Dysmorphol. 1996;5(3):263-266.
24. LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med. 2007;4(3):167-171.
25. Ripperger T, Troger HD, Schmidtke J. The genetic message of a sudden, unexpected death due to thoracic aortic dissection. Forensic Sci Int. 2009;187(1-3): 1-5.
26. Mizuguchi T, Collod-Beroud G, Akiyama T, et al. Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet. 2004;36(8):855-860.
27. van Steensel MA, van Geel M, Parren LJ, Schrander-Stumpel CT, Marcus-Soekarman D. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. Exp Dermatol. 2008;17(4):362-365.
28. Ades LC. Evolution of the face in Loeys-Dietz syndrome type II: Longitudinal observations from infancy in seven cases. Clin Dysmorphol. 2008;17(4): 243-248.
29. Akutsu K, Morisaki H, Takeshita S, et al. Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. Circ J. 2007;71(8):1305-1309.
30. Santiago-Sim T, Mathew-Joseph S, Pannu H, et al. Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. Stroke. 2009;40(5): 1604-1611.