Article Text

Download PDFPDF
Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
  1. M C Y de Wit1,
  2. J M Kros3,
  3. D J J Halley2,
  4. I F M de Coo1,
  5. R Verdijk3,
  6. B C Jacobs1,
  7. G M S Mancini2
  1. 1
    Department of Neurology, Erasmus MC, Rotterdam, The Netherlands
  2. 2
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
  3. 3
    Department of Clinical Pathology, Erasmus MC, Rotterdam, The Netherlands
  1. Dr G M S Mancini, Department of Clinical Genetics, Erasmus MC, Postbox 2040, 3000 CA Rotterdam, The Netherlands; g.mancini{at}


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.

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Competing interests: None.

  • Patient consent: Obtained from the patient’s family.