Orphanet journal of rare diseases · 2025
A large French family with TGFBR2 pathogenic variant: illustration of variability.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Eliahou Ludivine, Milleron Olivier, Haviari Skerdi, Arnoult Florence, Hanna Nadine, Arnaud Pauline, Toure Fadima, Jadoui Sabrine, Mirmiran Arienne, Boileau Catherine, Jondeau Guillaume
Аннотация
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."
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."