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Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.

International journal of cardiology - 15 Oct 2025

Jiang Dai-Ji, Yang Yi-Jia, Wang Yu-Zhen, Zhang Xu, Chan Wen-Xiu, Yu Ting-Ting, Chen Hao, Zhang Hao, Yan Yi, Fu Li-Jun

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a severe disease with significant genetic predisposition. While genetic architecture and clinical implications in pediatric PAH remain unclear. METHODS: We retrospectively analyzed clinical and genetic data from 218 pediatric PAH patients including 115 idiopathic/heritable PAH (IPAH/HPAH) and 103 PAH associated with congenital heart disease (PAH-CHD) admitted...

Topics

Humans
Male
Female
Child
Retrospective Studies
Child, Preschool
Adolescent
Infant
Exome Sequencing
Bone Morphogenetic Protein Receptors, Type II
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pulmonary Arterial Hypertension

Cohort Studies

Source

Identifiers

PMID: 40516660
DOI: 10.1016/j.ijcard.2025.133515

Genes

PAH
BMPR2
ACVRL1
KCNK3
SOX17

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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