Observational studyPediatric cardiology2026
The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.
Observational study in Pediatric cardiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05550389 (Genetic Overview of Pulmonary Hypertension), which is not on this map. Cited by 1 paper.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Overview of Pulmonary Hypertension
Who cites it
1 citing paper in PubMed.
- A second-hit conceptual framework for pulmonary arterial hypertension in adult congenital heart disease: genetics, hemodynamics, and treat-and-repair.Frontiers in cardiovascular medicine · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pulmonary arterial hypertension associated with congenital heart disease (APAH-CHD) is a severely progressive condition with complex pathogenesis. The aim of this study was to evaluate the contribution of genetic variants to the development of PAH in patients with APAH-CHD. Fifteen children and twenty-seven adults diagnosed with APAH-CHD were enrolled. Targeted next-generation sequencing was performed on PAH-associated genes (ABCC8, ACVRL1, AQP1, ATP13A3, BMPR2, CAV1, GDF2, GGCX, EIF2AK4, ENG, KCNK3, KDR, KLK1, SMAD1, SMAD4, SMAD9, SOX17, TBX4, TET2). A total of 21 distinct variants across 11 different genes were detected in 17 of the 42 patients. (ABCC8 = 2, ACVRL1 = 1, ATP13A3 = 2, BMPR2 = 4, GGCX = 1, EIF2AK4 = 2, ENG = 1, KDR = 3, SMAD1 = 1, SMAD9 = 1, TET2 = 3). Five of the patients with the mutation were under the age of 18, and 12 patients were adults. The most common CHD in patients with detected variants was VSD. PAH-related genetic variants were not uncommon in APAH-CHD patients. Our study identified 12 novel variants that may help to understand the genetic basis of APAH-CHD. Trial Registration The study has been registered on ClinicalTrials.gov with the identification number NCT05550389.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.