Case report of pulmonary hypertension caused by filamin A mutation [细丝蛋白A基因突变引起肺动脉高压1例]

作者：Deng X.; Zheng X.; Zhou H.; Zhang G.

来源：Chinese Journal of Applied Clinical Pediatrics, 2021, 36(21): 1657-1659.

DOI：10.3760/cma.j.cn101070-20200325-00501

• Child
• Filamin A mutation
• Pulmonary hypertension

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.

• 单位
  武汉科技大学