Combined Cardiological and Neurological Abnormalities Due to Filamin A Gene Mutation

Overview

Journal Clin Res Cardiol

Specialty Cardiology & Vascular Diseases

Date 2010 Aug 24

PMID 20730588

Citations 20

Authors

Marie Claire Y De Wit

Irenaeus F M De Coo

Maarten H Lequin

Dicky J J Halley

Jolien W Roos-Hesselink

Grazia M S Mancini

Affiliations

Soon will be listed here.

Abstract

Background: Cardiac defects can be the presenting symptom in patients with mutations in the X-linked gene FLNA. Dysfunction of this gene is associated with cardiac abnormalities, especially in the left ventricular outflow tract, but can also cause a congenital malformation of the cerebral cortex. We noticed that some patients diagnosed at the neurogenetics clinic had first presented to a cardiologist, suggesting that earlier recognition may be possible if the diagnosis is suspected.

Methods And Results: From the Erasmus MC cerebral malformations database 24 patients were identified with cerebral bilateral periventricular nodular heterotopia (PNH) without other cerebral cortical malformations. In six of these patients, a pathogenic mutation in FLNA was present. In five a cardiac defect was also found in the outflow tract. Four had presented to a cardiologist before the cerebral abnormalities were diagnosed.

Conclusions: The cardiological phenotype typically consists of aortic or mitral regurgitation, coarctation of the aorta or other left-sided cardiac malformations. Most patients in this category will not have a FLNA mutation, but the presence of neurological complaints, hyperlaxity of the skin or joints and/or a family history with similar cardiac or neurological problems in a possibly X-linked pattern may alert the clinician to the possibility of a FLNA mutation.

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