Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects
| Autor: | D. J. J. Halley, I.F.M. de Coo, Johan M. Kros, M. C. Y. de Wit, G.M.S. Mancini, B.C. (Bart) Jacobs, Robert M. Verdijk |
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| Přispěvatelé: | Neurology, Pathology, Clinical Genetics |
| Rok vydání: | 2009 |
| Předmět: |
Heart Defects
Congenital Pathology medicine.medical_specialty Genetic counseling Filamins Autopsy macromolecular substances Filamin Magnetic resonance angiography Aneurysm Contractile Proteins Fatal Outcome Periventricular Nodular Heterotopia medicine Humans Heart valve Aged medicine.diagnostic_test business.industry Vascular disease Microfilament Proteins Brain Intracranial Aneurysm DNA Exons medicine.disease Cerebral Angiography Psychiatry and Mental health medicine.anatomical_structure Mutation Surgery Female Neurology (clinical) business Tomography X-Ray Computed Magnetic Resonance Angiography Cerebral angiography |
| Zdroj: | Journal of Neurology Neurosurgery and Psychiatry, 80(4), 426-428. BMJ Publishing Group |
| ISSN: | 0022-3050 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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