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

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.