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First Report of a pCys194Arg Notch 3 Mutation in a Romanian CADASIL Patient with Transient Ischemic Attacks and Patent Foramen Ovale – Case Report and Brief Review
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease caused by mutations in NOTCH3 gene, characterized by accumulation of a toxic protein in the small and medium size arterioles. Clinical manifestations of CADASIL include lacunar infarcts or, less frequently, large artery ischemic strokes, transient ischemic attacks, dementia, migraine and psychiatric disorders. Brain magnetic resonance imaging (MRI) usually shows multiple lacunar infarcts, diffuse leukoencephalopathy and cerebral microbleeds. The authors report the case of a 39-year-old Romanian woman who presented two transient ischemic attacks manifested with aphasia, headache and mild cognitive impairment. Brain MRI showed multiple isolated and confluent bilateral supratentorial hyperintense fluid-attenuated inversion recovery (FLAIR) and apparent diffusion coefficient (ADC) areas involving the subcortical and deep white matter, but also lenticular and caudate regions and normal aspects of the brain arteries on magnetic resonance angiography (MR-angiography). Differential diagnosis with other disorders affecting small cerebral vessels was performed. Transesophageal echocardiography showed presence of patent foramen ovale (PFO), with right-to-left shunt and contrast passage at Valsalva maneuver. Genetic testing revealed a pCys194Arg heterozygous mutation with C580T>C nucleotide’s change on exon 4 of NOTCH 3 gene. The authors discuss the association of CADASIL to PFO and mild cognitive impairment as well as ongoing research for a therapeutic strategy.
Keywords: CADASIL, patent foramen ovale, lacunar infarct, migraine, dementia