EJMCR. 2017; 1(January 2017): 10-13

An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report

Authors: Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob.

ABSTRACT

Background: Many children with multiple congenital organ defects have a genetic etiological basis. Periventricular nodular heterotopia (PVNH) is a neuronal migrational disorder that can be seen in isolation or in association with other neurological and non-neurological features. Mutations in the FLNA gene may result in X-linked dominant bilateral PVNH, a condition that is predominately seen in females due to its in-utero lethality for males. Associated features may include cardiovascular defects and thrombocytopenia. Case presentation: We present an 8 year old girl with multiple congenital heart defects and longstanding unexplained low platelets counts. There were no neurodevelopmental concerns but she was incidentally found to have bilateral PVNH. Targeted genetic testing confirmed a mutation in the FLNA gene. Conclusion: Testing for mutations in this gene in any child with bilateral symmetrical PVNH is recommended. If mutations are found, then other associations should be searched for if not already evident.

Keywords:
FLNA gene, cardiac defects, periventricular heterotopia, thrombocytopenia, case report


View PDF
An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report


Authors
Archana Murugan

PubMed articlesGoogle scholar articles

Mohamed O E Babiker

PubMed articlesGoogle scholar articles

Ruth Newbury-Ecob

PubMed articlesGoogle scholar articles


Correspondence to:
. Pediatric Neurology Department, Bristol Royal Hospital for Children, Bristol, United Kingdom ;

Publication history

How to cite this article?

Export to EndNote Export to refMan

Pubmed Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. EJMCR. 2017; 1(January 2017): 10-13. doi:10.24911/ejmcr/1/3


Web Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. http://www.ejmcr.com/?mno=267543 [Access: November 21, 2018]. doi:10.24911/ejmcr/1/3


AMA (American Medical Association) Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. EJMCR. 2017; 1(January 2017): 10-13. doi:10.24911/ejmcr/1/3


Vancouver/ICMJE Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. EJMCR. (2017), [cited November 21, 2018]; 1(January 2017): 10-13. doi:10.24911/ejmcr/1/3


Harvard Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob (2017) An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. EJMCR, 1 (January 2017), 10-13. doi:10.24911/ejmcr/1/3


Turabian Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. 2017. An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. European Journal of Medical Case Reports, 1 (January 2017), 10-13. doi:10.24911/ejmcr/1/3


Chicago Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. "An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report." European Journal of Medical Case Reports 1 (2017), 10-13. doi:10.24911/ejmcr/1/3


MLA (The Modern Language Association) Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob. "An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report." European Journal of Medical Case Reports 1.January 2017 (2017), 10-13. Print. doi:10.24911/ejmcr/1/3


APA (American Psychological Association) Style

Archana Murugan, Mohamed O E Babiker, Ruth Newbury-Ecob (2017) An FLNA gene variant causing congenital cardiac defects, persistent thrombocytopenia and an 'incidental' periventricular nodular heterotopia: a case report. European Journal of Medical Case Reports, 1 (January 2017), 10-13. doi:10.24911/ejmcr/1/3


Share this article

Click the icon of the social media platform on which you would like to share this article.

Article Statistics

Viewed: 1842
Downloaded: 234
Cited: 0

Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@ejmcr.com.

Copyright © 2018 Discover Publishing Group. All Rights Reserved.