Fatma Hayvaci Canbeyli, Kazim Secgen, Faith Suheyl Ezgu, Gulten Tacoy, Serkan Unlu, Hidayet Ozan Arabaci, Ayhan Pektas, Asli Inci, Ergun Baris Kaya, Umit Yasar Sinan, Mehmet Serdar Kucukoglu, Serdar Kula
Gazi University Faculty of Medicine. Istanbul University Faculty of Medicine. Afyonkarahisar University of Health Sciences. Hacettepe University Faculty of Medicine.
Turkey
Pediatric Cardiology
Pediatr Cardiol 2025;
DOI: 10.1007/s00246-025-03847-z
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.
Category
Class I. Pulmonary Hypertension Associated with Congenital Cardiovascular Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease and Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access Free PDF File or Full Text Article Available Through PubMed or DOI: Yes