Type III collagen mutations cause fragile cerebral arteries

Abstract

Premature vascular aneurysms and fragility of cerebral arteries are commonly associated with type III collagen mutations and physical signs suggesting a generalized abnormality of connective tissue. Sometimes these traits are clearly genetically transmitted. Here we present seven examples of early cerebrovascular aneurysms or fragility including five examples of carotid cavernous sinus aneurysms. With one exception in which we suspect the mutation is too small to be detected, all of them had easily visible abnormalities of their type III collagen proteins. Further work in progress will eventually allow the characterization of their mutations at gene sequence level and will be followed by the ability to prevent transmission of the mutant genes in these families.

On the inheritance of intracranial aneurysms.

“…116 ' 117 With the exception of autosomal dominant polycystic kidney disease, there is a paucity of reports of documented familial intracraniai aneurysms associated with any of these aforementioned heritable disorders. 118 Nevertheless, it may be prudent to consider the disorders listed in Table 9 when confronted with a case of familial intracraniai aneurysms. A careful history and physical examination are mandatory and may direct one to the diagnosis.…”

Spontaneous Carotid-Cavernous Fistula in a Patient With Ehlers-Danlos Syndrome Type IV-Case Report-

“…Five patients treated by an endovascular approach died during the perioperative period. 2,6,13,17,21) The fragility of the tissues and vessels in patients with EDS type IV may contraindicate endovascular treatment for spontaneous CCF, because of the increased risk of tearing. Endovascular treatment is widely used as the treatment of choice for CCF, but neurosurgeons should be fully aware of the potential hazards of the procedure in patients with EDS type IV.…”

“…2,[5][6][7]9,11,13,14,16,17,21,23,25,26) The age at which the syndrome manifested ranged from 17 to 52 years (mean 31.8 years). The patients were predominantly female (male:female ratio of 1:5.4).…”

Biomarkers of connective tissue disease in patients with intracranial aneurysms

“…[1][2][3][4][5][6][7][8][9][10][11] It is unclear why some people develop IAs; however, congenital changes in the arterial wall likely play a role. Hypertension, smoking, and alcohol abuse are additional risk factors for SAH.…”