Case Report

Volume: 1 | Issue: 1 | Published: May 23, 2017 | Pages: 10 - 13 | DOI: 10.24911/ejmcr/1/3

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


Article Info

Authors

Archana Murugan

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.

Mohamed O E Babiker

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.

Ruth Newbury-Ecob

. Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.

Publication History

Received: May 23, 2017

Accepted: January 01, 1970

Published: May 23, 2017


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, green


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; 23 (May 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. https://ejmcr.com/articles/1541 [Access: December 25, 2024]. 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; 23 (May 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 December 25, 2024]; 23 (May 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, 23 (May 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." 23 (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." 23.May 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. , 23 (May 2017), 10-13. doi:10.24911/ejmcr/1/3