Abstract
Arteriopathies are important causes of stroke. These can be acquired or inherited. Most genetic causes of vasculopathy can be classified by the types of vessels that they affect (small or large) and the mechanism by which those vessels are affected. These disorders include inborn errors of metabolism such as Fabry disease, homocystinuria, and the mitochondrial disorders, as well as the genetic disorders leading to early atherosclerosis, including the hyperlipidemias and Tangier disease. Connective tissue disorders such as Ehlers–Danlos syndrome type I, Loeys–Dietz syndrome, and Marfan syndrome can increase the risk of arterial dissection. Moyamoya syndrome, a severe cerebrovascular disorder, has been described in a variety of monogenic and chromosomal disorders, including sickle cell anemia, neurofibromatosis type I, and also Down and Williams syndromes. Several disorders, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy, preferentially affect smaller vessels. Recognizing these disease presentations can significantly impact patient care.
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