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 , Volume 80 - Issue 4 p. 426- 428
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.