Concluding Remarks
Here, we report a clinical case of rare PA in a Chinese family. This
case highlights the importance of clinical diagnosis of the PA
associated with mutation in BMPR2 gene. Hence, molecular genetic
screening of BMPR2gene could be considered to possibly confirm the
patients clinically diagnosed with PA. Our present study also emphasizes
the significance of the high quality genetic analysis by whole exome
sequencing in the molecular diagnosis of rare congenital heart diseases
with possible phenotypic heterogeneity.