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.