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Aims <p>To report aortic events in a large family carrying a variant in the <i>TGFBR2</i> gene.</p> Methods <p>Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same <i>TGFBR2</i> pathogenic variant. We assessed the incidence of aortic events and prophylactic surgery, as well as life expectancy.</p> Results <p>Over a follow-up, 21 patients died (33% of the population), of whom ten were related to a dissection (48%). Eight patients underwent prophylactic aortic root surgery (13%). Over the generations, there is an increase in life expectancy and a decrease in the likelihood of aortic dissection (p &lt; 0.001), but no significant change in the combined endpoint of surgery, aortic dissection or death (p = 0.168). The type of prophylactic surgery has also evolved over the years from mechanical Bentall surgery to valve-sparing surgery. The variability in the age at onset of aortic events reflects the broad phenotypic spectrum of aortic disease associated with this variant.</p> Conclusion <p>Across four generations, improved diagnosis, prophylactic surgery, and surgical techniques were associated with reduced dissection rates and increased survival, despite marked intra-familial variability in aortic disease severity among carriers of the same <i>TGFBR2</i> pathogenic variant.”</p>

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A large French family with TGFBR2 pathogenic variant: illustration of variability

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月27日

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  • Ludivine Eliahou,
  • Olivier Milleron,
  • Skerdi Haviari,
  • Florence Arnoult,
  • Nadine Hanna,
  • Pauline Arnaud,
  • Fadima Toure,
  • Sabrine Jadoui,
  • Arienne Mirmiran,
  • Catherine Boileau,
  • Guillaume Jondeau

摘要

Aims

To report aortic events in a large family carrying a variant in the TGFBR2 gene.

Methods

Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same TGFBR2 pathogenic variant. We assessed the incidence of aortic events and prophylactic surgery, as well as life expectancy.

Results

Over a follow-up, 21 patients died (33% of the population), of whom ten were related to a dissection (48%). Eight patients underwent prophylactic aortic root surgery (13%). Over the generations, there is an increase in life expectancy and a decrease in the likelihood of aortic dissection (p < 0.001), but no significant change in the combined endpoint of surgery, aortic dissection or death (p = 0.168). The type of prophylactic surgery has also evolved over the years from mechanical Bentall surgery to valve-sparing surgery. The variability in the age at onset of aortic events reflects the broad phenotypic spectrum of aortic disease associated with this variant.

Conclusion

Across four generations, improved diagnosis, prophylactic surgery, and surgical techniques were associated with reduced dissection rates and increased survival, despite marked intra-familial variability in aortic disease severity among carriers of the same TGFBR2 pathogenic variant.”