Cerebral Arteriovenous Malformations: Clinical Manifestation, Familial Occurrences and Genetics, pp. 311-320
Authors: Roman Herzig, David Skoloudik, Daniel Sanak, Stroke Center, Dept. of Neurology, Palacky University and University Hospital, Olomouc, Czech Republic
Abstract: Cerebral arteriovenous malformations (AVMs) are held to be formed as congenital developmental anomalies of the blood vessels—from a persistent direct connection between the arterial and venous portions of the primitive vascular plexus in the embryo, prior to the fourth week of gestation. Cerebral AVMs present predominantly with intracranial hemorrhage, which accounts for more than half of their presentations. About 25% of AVMs present with seizures and 25% with other clinical manifestations, primarily headache, or progressive neurological deficit. Other, less common, clinical manifestations include cardiomegaly and high output failure, obstructive hydrocephalus, or compression of neighboring structures, including the cranial nerves. However, they can also remain clinically asymptomatic or can be associated with cerebral infarction. In cerebral AVMs, ischemia of the surrounding tissue can result from vascular steal. Familial occurrence of cerebral AVMs is found in von Hippel-Lindau disease, Osler-Weber-Rendu disease, and Sturge-Weber-Dimitri disease. However, their familial occurrence unassociated with these diseases is very rare and their genetic origin has not been clarified yet.