Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects.
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.
de Wit
M C Y
MC
Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
Kros
J M
JM
Halley
D J J
DJ
de Coo
I F M
IF
Verdijk
R
R
Jacobs
B C
BC
Mancini
G M S
GM
D000368:Aged; D001921:Brain / Q000473:pathology; D002533:Cerebral Angiography; D003285:Contractile Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D064448:Filamins; D006330:Heart Defects, Congenital / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D002532:Intracranial Aneurysm / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D018810:Magnetic Resonance Angiography; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics* / Q000502:physiology*; D054091:Periventricular Nodular Heterotopia / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed
D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins; D004247:DNA