What is the role of genetics in the etiology of persistent pulmonary hypertension of the newborn (PPHN)?

Updated: Sep 03, 2019
  • Author: Kate A Tauber, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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Genetic factors may increase susceptibility to pulmonary hypertension. Strong links between PPHN and polymorphisms of the carbamoyl phosphate synthase gene have been reported. [14] However, the importance of this finding is uncertain, and further work is needed in this area. More recently, investigators have described an association between polymorphisms in urea cycle enzyme genes and PPHN; they reported three single-nucleotide polymorphisms (SNPs) (rs41272673, rs4399666, and rs2287599) in the carbamoyl phosphate synthase 1 gene (CPS1) were significantly associated with PPHN. [15]  In addition, a recognized emerging cause of pediatric pulmonary hypertension is rare variants in the T-box transcription gene (TBX4); however, their pathophysiology and how they contribute to PPHN are unclear. [16]  CPS1NOTCH3, and SMAD9 appear to be risk genes for late preterm and term PPHN. [17] Larger studies are needed to replicate these findings.

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