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<p>This invited commentary discusses a unique case of a 4-year-old child with bicuspid aortic valve (BAV), severe ascending aortic aneurysm, and a pathogenic PTEN variant. While the co-occurrence of these findings is exceptional, current evidence does not support a causal link between PTEN loss and thoracic aortopathy. The aortic phenotype and histopathology are fully consistent with BAV-associated aortopathy. This case highlights the importance of cautious genotype–phenotype interpretation and underscores that PTEN-related mechanisms in aortic disease remain speculative. The presentation should therefore be considered hypothesis-generating rather than practice-changing.</p>

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A rare co-presentation of bicuspid aortic valve aortopathy and PTEN mutation: hypothesis-generating, not practice-changing

  • 期刊论文

  • 发表日期：

    2026年1月10日

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  • Nimrat Grewal,
  • Arjan Houweling

摘要

This invited commentary discusses a unique case of a 4-year-old child with bicuspid aortic valve (BAV), severe ascending aortic aneurysm, and a pathogenic PTEN variant. While the co-occurrence of these findings is exceptional, current evidence does not support a causal link between PTEN loss and thoracic aortopathy. The aortic phenotype and histopathology are fully consistent with BAV-associated aortopathy. This case highlights the importance of cautious genotype–phenotype interpretation and underscores that PTEN-related mechanisms in aortic disease remain speculative. The presentation should therefore be considered hypothesis-generating rather than practice-changing.