Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
- 1Department of Neurology, Erasmus MC, Rotterdam, The Netherlands
- 2Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
- 3Department of Clinical Pathology, Erasmus MC, Rotterdam, The Netherlands
- Dr G M S Mancini, Department of Clinical Genetics, Erasmus MC, Postbox 2040, 3000 CA Rotterdam, The Netherlands; g.mancini{at}erasmusmc.nl
- Received 14 March 2008
- Revised 12 June 2008
- Accepted 14 June 2008
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.
Footnotes
-
Competing interests: None.
-
Patient consent: Obtained from the patient’s family.
