Evidence map›Paper›PMID 41310652›Full record

ArticleOrphanet journal of rare diseases2025

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

Ludivine Eliahou, Olivier Milleron, Skerdi Haviari, Florence Arnoult, Nadine Hanna, Pauline Arnaud, Fadima Toure, Sabrine Jadoui, Arienne Mirmiran, Catherine Boileau and 1 more

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In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Ludivine EliahouCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France. Ludivine.eliahou@aphp.fr.ORCID 0000-0002-2995-804X
Olivier MilleronCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Skerdi HaviariUniversité Sorbonne Paris Nord, IAME, INSERM, Paris, 75018, France.
Florence ArnoultCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Nadine HannaCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Pauline ArnaudCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Fadima ToureCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Sabrine JadouiCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Arienne MirmiranCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Catherine BoileauCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.
Guillaume JondeauCentre National de Référence pour le syndrome de Marfan et apparentés, maladies aortiques rares, VASCERN HCP, Service de Cardiologie, Hôpital Bichat, 46 rue Henri Huchard, Paris, 75018, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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

methodsSince 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.

resultsOver 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.

conclusionAcross 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."

Indexed as

Aortic DissectionReceptor, Transforming Growth Factor-beta Type IIAdolescentAdultAgedAged, 80 and overAorta, ThoracicFemaleFranceHumansLongitudinal StudiesMaleMiddle AgedPedigreeProphylactic Surgical ProceduresYoung AdultReceptor, Transforming Growth Factor-beta Type IITGFBR2 protein, humanGenotype-phenotype correlationModifier genesTGFBR2

Identifiers

PMID41310652
PMCPMC12659356

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.