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Genetic Variants Associated with Persistent Pulmonary Hypertension of Newborn: A Systematic Review
Srinivasan Mani1, Seth I Berger2
1Division of Neonatology, Department of Pediatrics, University at Buffalo, Buffalo, New York, USA, smani3@buffalo.edu.
Neonatology
|March 13, 2026
Summary
Genetic variants in genes like CPS1 and BMPR2 are associated with persistent pulmonary hypertension of newborn (PPHN). However, studies on these genetic links in infants are limited and yield inconsistent results.
Area of Science:
- Neonatal Medicine
- Genetics
- Pediatric Cardiology
Background:
- Persistent pulmonary hypertension of newborn (PPHN) affects 1.9/1000 live births.
- PPHN results from impaired circulatory transition post-birth.
- PPHN has a significant mortality rate (4-33%).
Purpose of the Study:
- Systematically review genetic variants linked to PPHN.
- Focus on term and late preterm infants without genetic syndromes.
- Identify genetic factors contributing to PPHN.
Main Methods:
- Searched MEDLINE, SCOPUS, and COCHRANE databases.
- Included cohort studies, case-control studies, and case series.
- Analyzed 9 studies with 1,494 participants.
Main Results:
- Identified associations between PPHN and variants in CPS1, CRHR1, NOTCH3, EDN1, EPAS1, WWC2, ABCA3, RFX3, EP300, GNA11, PKLR, SLC2A1, BMPR2, and EGLN1.
- 91% of included studies were of moderate to good quality.
- One study found no association with an ACE gene variant.
Conclusions:
- Studies on common genetic variants for PPHN are limited.
- Existing research uses small cohorts and candidate gene approaches.
- Results are inconsistent across studies, highlighting the need for further research.
Keywords:
Genetic variantsInfantNewbornPersistent fetal circulation syndromePersistent pulmonary hypertensionMore Related Videos
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