A genetic analysis for patients with pulmonary arterial hypertension

Yu Yoshida, Keiko Uchida, Kazuki Kodo, Yoshiyuki Furutani, Toshio Nakanishi, Hiroyuki Yamagishi

Research output: Chapter in Book/Report/Conference proceedingChapter


Pulmonary arterial hypertension (PAH) is a lethal disease [1]. Although mutations in BMPR2 and other genes have been reported, the genetic causes in large numbers of patients, especially with sporadic PAH, remain unknown. In 2013, Kerstjens-Frederikse et al. first reported TBX4 mutations in patients with PAH [2]. TBX4 is an essential transcription factor for the development of the hindlimbs and lungs [3]. In European countries, the frequency of TBX4 mutation was reported as 2.4-4.1% in adult-onset PAH [2, 4] and as 7.5-30% in child-onset PAH [2, 5] (Fig. 27.1). However, its frequency in Asian patients with PAH has yet to be studied.

Original languageEnglish
Title of host publicationMolecular Mechanism of Congenital Heart Disease and Pulmonary Hypertension
PublisherSpringer Singapore
Number of pages3
ISBN (Electronic)9789811511851
ISBN (Print)9789811511844
Publication statusPublished - 2020 Jan 1


  • Genetic analysis
  • Pulmonary hypertension
  • T-box
  • TBX4

ASJC Scopus subject areas

  • Medicine(all)


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