ReviewChest2020
Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension.
Review in Chest, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 32 citations in OpenAlex.
- A large animal model of heritable pulmonary arterial hypertension using BMPR2 gene-edited sheep.JCI insight · 2026Article
- Excessive postnatal smooth muscle differentiation in a lung-specific model of TBX4-related pulmonary hypertension.JCI insight · 2026Article
- A Large Animal Model of Heritable Pulmonary Arterial Hypertension Using Gene-editedbioRxiv : the preprint server for biology · 2026Article
- Postnatally induced TBX4 insufficiency confers pulmonary hypertension and impairs lung development in infant mice.Pediatric research · 2026Article
- The genetic epidemiology and genotype-phenotype correlations among Chinese children with idiopathic and heritable pulmonary arterial hypertension.Respiratory research · 2025Article
- The Challenge in Burden of Pulmonary Arterial Hypertension: A Perspective From the Global Burden of Disease Study.MedComm · 2025Article
- Review
- Case Report: Pulmonary arterial hypertension in children caused by a new mutation in theFrontiers in pediatrics · 2025Article
- Seeing pulmonary hypertension through a paediatric lens: a viewpoint.The European respiratory journal · 2024Article
- The causes of pulmonary hypertension and the benefits of aerobic exercise for pulmonary hypertension from an integrated perspective.Frontiers in physiology · 2024Review
- Lateral thinking in syndromic congenital cardiovascular disease.Disease models & mechanisms · 2023Article
- Pulmonary arterial hypertension associated with congenital heart disease: An omics study.Frontiers in cardiovascular medicine · 2023Review
- Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension.Journal of clinical medicine · 2022Article
- Caveolin-1 associated with severe (pediatric-onset) presentation of pulmonary arterial hypertension.Pulmonary circulation · 2022Article
- Progress in Pulmonary Vein Stenosis: Lessons from Success in Treating Pulmonary Arterial Hypertension.Children (Basel, Switzerland) · 2022Article
- Genes in pediatric pulmonary arterial hypertension and the most promisingFrontiers in genetics · 2022Review
- Prognostic biomarkers in pediatric pulmonary arterial hypertension.Cardiovascular diagnosis and therapy · 2021Review
- Article
- Genetic Counseling and Testing in Pulmonary Arterial Hypertension.Methodist DeBakey cardiovascular journal · 2021Review
- Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.Journal of the American Heart Association · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite therapeutic advances. Clinical management of children with PAH is particularly challenging because of increased complexity of disease etiology and clinical presentation, and the lack of data from pediatric-specific clinical trials. In children, PAH often develops in association with congenital heart disease and other developmental disorders. Emerging data from genetic studies of pediatric-onset PAH indicate that the genetic basis is different than that of adults. There is a greater genetic burden in children, with rare genetic factors contributing to at least 35% of pediatric-onset idiopathic PAH (IPAH) compared with approximately 11% of adult-onset IPAH. De novo variants are the most frequent monogenetic cause of PAH in children, likely contributing to approximately 15% of all cases. Rare deleterious variants in BMPR2 contribute to pediatric-onset IPAH and familial PAH with similar frequency as adult-onset disease but rarely explain cases of PAH associated with other diseases. Rare deleterious variants in developmental genes-including TBX4, SOX17, and other genes requiring confirmation in larger cohorts-are emerging as important contributors to pediatric-onset disease. Because each causal gene contributes to only a small number of cases, large cohorts of pediatric-onset PAH are needed to further identify the unique etiologic differences of PAH in children. We propose a genetics-first approach followed by focused phenotyping of pediatric patients grouped by genetic diagnosis to define endophenotypes that can be used to improve risk stratification and treatment.
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What OpenQuestion holds
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.