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<p>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 (<i>ABCC8</i>, <i>ACVRL1</i>, <i>AQP1</i>, <i>ATP13A3</i>, <i>BMPR2</i>, <i>CAV1</i>, <i>GDF2</i>, <i>GGCX</i>, <i>EIF2AK4</i>, <i>ENG</i>, <i>KCNK3</i>, <i>KDR</i>, <i>KLK1</i>, <i>SMAD1</i>, <i>SMAD4</i>, <i>SMAD9</i>, <i>SOX17</i>, <i>TBX4</i>, <i>TET2</i>). A total of 21 distinct variants across 11 different genes were detected in 17 of the 42 patients. (<i>ABCC8</i> = 2, <i>ACVRL1</i> = 1, <i>ATP13A3</i> = 2, <i>BMPR2</i> = 4, <i>GGCX</i> = 1, <i>EIF2AK4</i> = 2, <i>ENG</i> = 1, <i>KDR</i> = 3, <i>SMAD1</i> = 1, <i>SMAD9</i> = 1, <i>TET2</i> = 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. <b>Trial Registration</b> The study has been registered on ClinicalTrials.gov with the identification number NCT05550389.</p>

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The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月4日

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  • Fatma Hayvaci Canbeyli,
  • Kazim Secgen,
  • Fatih Suheyl Ezgu,
  • Gulten Tacoy,
  • Serkan Unlu,
  • Hidayet Ozan Arabacı,
  • Ayhan Pektas,
  • Aslı Inci,
  • Ergun Barıs Kaya,
  • Umit Yasar Sinan,
  • Mehmet Serdar Kucukoglu,
  • Serdar Kula

摘要

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.