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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}erasmusmc.nl

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.

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Footnotes

  • Competing interests: None.

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

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