title: Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
abstract: Filamin A is an important gene involved in the development of the brain, heart, connective tissue and blood vessels. A case is presented illustrating the challenge in recognising patients with filamin A mutations. The patient, a 71-year-old woman, was known to have heart valve disease and bilateral periventricular nodular heterotopia when she died of a subarachnoid haemorrhage. Autopsy showed typical cerebral bilateral periventricular heterotopia and vascular abnormalities. Postmortally, the diagnosis of a filamin A mutation was confirmed. Recognition during life may prevent cardiovascular problems and provide possibilities for genetic counselling.
authors.affiliation: Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: M C Y
authors.initials: MC
authors.lastname: de Wit
authors.forename: J M
authors.initials: JM
authors.lastname: Kros
authors.forename: D J J
authors.initials: DJ
authors.lastname: Halley
authors.forename: I F M
authors.initials: IF
authors.lastname: de Coo
authors.forename: R
authors.initials: R
authors.lastname: Verdijk
authors.forename: B C
authors.initials: BC
authors.lastname: Jacobs
authors.forename: G M S
authors.initials: GM
authors.lastname: Mancini
mesh_terms: D000368:Aged; D001921:Brain / Q000473:pathology; D002533:Cerebral Angiography; D003285:Contractile Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D064448:Filamins; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D002532:Intracranial Aneurysm / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D018810:Magnetic Resonance Angiography; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D054091:Periventricular Nodular Heterotopia / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins; D004247:DNA