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.

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Persistent URL dx.doi.org/10.1136/jnnp.2008.149419, hdl.handle.net/1765/24908
Journal Journal of Neurology, Neurosurgery and Psychiatry: an international peer-reviewed journal for health professionals and researchers in all areas of neurology and neurosurgery
Citation
de Wit, M.C.Y, Kros, J.M, Halley, D, de Coo, I.F.M, Verdijk, R.M, Jacobs, B.C, & Mancini, G.M.S. (2009). Filamin a mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. Journal of Neurology, Neurosurgery and Psychiatry: an international peer-reviewed journal for health professionals and researchers in all areas of neurology and neurosurgery, 80(4), 426–428. doi:10.1136/jnnp.2008.149419