The clinical data of a case of
pulmonary arterial hypertension (PAH) caused by
mutation of
filamin A( FLNA) in the
congenital heart disease center of Wuhan
Asian Heart Hospital in September 2017 were subject to retrospective
analysis.A 2-year-old
girl had clinical characteristics of special
face, backward
growth and development, repeated pulmonary
infections, repeated
heart failure,
congenital heart disease, and PAH.Genetic
detection FLNA
mutation (exon34 c.5417-1G> A), which was a new pathogenic
mutation.There were few
reports of PAH caused by FLNA
mutations.In this study, a new case of
pulmonary hypertension caused by FLNA c. 5417-1G>A compound heterozygous shearing
mutations was found, which enriched the FLNA
mutation spectrum and prompted genetic
detection was an important approach to detect the cause of PAH.