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<p>Pulmonary arterial hypertension (PAH) is a&#xa0;complex vascular disease characterized by pronounced pathobiological and genetic heterogeneity. At the 7th&#xa0;World Symposium on Pulmonary Hypertension (7thWSPH), new insights into key mechanisms such as vascular remodeling, epigenetic modifications, metabolic dysregulation and ion channel alterations were presented. Advances in genetics, transcriptomics, epigenetics, and multiomics integration enable a deeper understanding of molecular processes and open new therapeutic perspectives. It is becoming increasingly clearer that these pathobiological processes cannot be viewed in isolation but are closely interlinked with genetic predispositions and individual exposure to risk factors. The integration of modern molecular analyses into pathophysiological research provides the foundation for a&#xa0;more comprehensive understanding of disease development and progression. In particular, rare genetic variants in genes, such as <i>BMPR2</i>, <i>TBX4</i> or <i>SOX17</i> provide valuable insights into individual disease susceptibility and highlight the potential of personalized treatment approaches. This review summarizes the current pathobiological and genetic concepts and discusses future research priorities as well as the need for diverse, international patient cohorts.</p>

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Pathobiologie und Genetik der pulmonalen Hypertonie

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月1日

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  • Andrea Olschewski,
  • Ralph T. Schermuly,
  • Soni Pullamsetti,
  • Chandran Nagaraj,
  • Peter Dorfmüller,
  • Christina A. Eichstaedt,
  • Vasile Foris,
  • Stefan Gräf

摘要

Pulmonary arterial hypertension (PAH) is a complex vascular disease characterized by pronounced pathobiological and genetic heterogeneity. At the 7th World Symposium on Pulmonary Hypertension (7thWSPH), new insights into key mechanisms such as vascular remodeling, epigenetic modifications, metabolic dysregulation and ion channel alterations were presented. Advances in genetics, transcriptomics, epigenetics, and multiomics integration enable a deeper understanding of molecular processes and open new therapeutic perspectives. It is becoming increasingly clearer that these pathobiological processes cannot be viewed in isolation but are closely interlinked with genetic predispositions and individual exposure to risk factors. The integration of modern molecular analyses into pathophysiological research provides the foundation for a more comprehensive understanding of disease development and progression. In particular, rare genetic variants in genes, such as BMPR2, TBX4 or SOX17 provide valuable insights into individual disease susceptibility and highlight the potential of personalized treatment approaches. This review summarizes the current pathobiological and genetic concepts and discusses future research priorities as well as the need for diverse, international patient cohorts.