Lung disease due to FLNA mutation improved after shunt closure for
congenital heart disease
Abstract
The FLNA gene encodes filamin A, an actin filament cross-linking protein
that is ubiquitously expressed within the body. FLNA mutation causes
periventricular nodular heterotopia (PVNH) and congenital heart disease.
Interstitial lung disease (ILD) related to FLNA mutation has also been
reported from 2011 and can be lethal. However, there are no reports of
how to combine the treatment of heart disease with the conflicting
treatment of lung disease. We herein report cases of two girls with FLNA
mutation and both ILD and left-to-right shunts due to congenital heart
disease. They presented with respiratory symptoms in early infancy and
required management with long-term intubation and ventilation. However,
their respiratory status improved subsequent to the closure of their
left-to-right shunts even though they were small shunts with improvement
in pulmonary hypertension. This suggests that early intervention with
closure of cardiac shunts can prevent further deterioration of lung
damage.