Aneurysms familial

A complete history and physical examination should assess (1) presence or absence of cardiovascular risk factors or definite cardiovascular disease in the individual (2) family history of premature cardiovascular disease or lipid disorders (3) presence or absence of secondary causes of hyperlipidemia, including concurrent medications and (4) presence or absence of xanthomas, abdominal pain, or history of pancreatitis, renal or liver disease, peripheral vascular disease, abdominal aortic aneurysm, or cerebral vascular disease (carotid bruits, stroke, or transient ischemic attack). 

S. E., Shete, S. S., and Milewicz, D. M. (2003). Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation 107, 3184-3190. 

Moyamoya seems to be mainly confined to the Japanese and other Asians, and in most cases the cause is unknown (Bruno et al. 1988 Chiu et al. 1998). Some cases are familial (Kitahara et al. 1979) others appear to be caused by a generalized fibrous disorder of arteries (Aoyagi et al. 1996), and a few may result from a congenital hypoplastic anomaly affecting arteries at the base of the brain, or associated with Down s syndrome (Cramer et al. 1996). The syndrome may present in infancy with recurrent episodes of cerebral ischemia and infarction, mental retardation, headache, epileptic seizures and, occasionally, involuntary movements. In adults, subarachnoid or primary intracerebral hemorrhage are also common owing to rupture of collateral vessels. There have also been a few reports of associated intracranial aneurysms (Iwama et al. 1997) and also of cerebral arteriovenous malformations. 

Intracranial aneurysms are not congenital but develop over the course of life. Approximately 10% of aneurysms are familial, and candidate genes identified thus far include those coding for the extracellular matrix. Saccular aneurysms tend to occur at branching points on the circle of Willis and proximal cerebral arteries approximately 40% on the anterior communicating artery complex, 30% on the posterior communicating artery or distal internal carotid artery, 20% on the middle cerebral artery and 10% in the posterior... 

ADPKD families haye a strong family history of intracranial artery aneurysm rupture. Hypertension is an early and frequent manifestation and gross hematuria is a common presenting symptom. 

Bornstein RA, Weir BK, Petruk KC, Disney LB (1987) Neuropsychological function in patients after subarachnoid hemorrhage. Neurosurgery 21 651-654 Bosmans H, Wilms G, Marchal G, Demaerel P, Baert AL (1995) Characterisation of intracranial aneurysms with MR angiography. Neuroradiology 37 262-266 Bossuyt PM, Raaymakers TW, Bonsel GJ, Rinkel GJ (2005) Screening families for intracranial aneurysms anxiety, perceived risk, and informed choice. Prev Med 41(3/4) 795-799... 

Leblanc R (1996) Familial cerebral aneurysms. A bias for women. Stroke 27 1050-1054... 

Lozano AM, Leblanc R (1987) Familial intracranial aneurysms. J Neurosurg 66 522-528 Luginbuhl M, Remonda L (1999) Interventional neuroradiology. Recent developments and anaesthesiologic aspects. Minerva Anestesiol 65 445-454 Lussenhop AJ, Spence WT (1960) Artificial embolization of cerebral arteries. Report of use in a case of arteriovenous malformation. JAMA 172 1153-1155... 

Raaymakers TW, Rinkel GJ, Ramos LM (1998b) Initial and follow-up screening for aneurysms in families with familial subarachnoid hemorrhage. Neurology 51 1125-1130... 

Type III al(III) Arterial (familial) aneurysm Ehlers-Danlos ssmdrome type IV... 

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