Evidence map›Paper›PMID 40332209›Full record

ArticleArquivos brasileiros de cardiologia2025

Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.

Silas Ramos Furquim, Lucas Vieira Lacerda Pires, Nara Alves Buriti, Mariana Lombardi Peres de Carvalho, Emanuelle Leonilia Marques, Bianca Domit Werner Linnenkamp, Luciana Sacilotto, Fabiana G Marcondes-Braga, Iascara Wozniak de Campos, Luis Fernando Bernal da Costa Seguro and 4 more

Abstract readCase Reports
In one paragraph

Article in Arquivos brasileiros de cardiologia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

14 authors.

Silas Ramos FurquimInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0001-8727-0940
Lucas Vieira Lacerda PiresInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0001-8649-976X
Nara Alves BuritiInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Mariana Lombardi Peres de CarvalhoInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0003-4769-8031
Emanuelle Leonilia MarquesInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0009-0002-5146-9645
Bianca Domit Werner LinnenkampInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0001-9889-293X
Luciana SacilottoInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0002-3679-5349
Fabiana G Marcondes-BragaInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0002-2533-5638
Iascara Wozniak de CamposInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Luis Fernando Bernal da Costa SeguroInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Sandrigo ManginiInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
Monica S AvilaInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.ORCID 0000-0003-3712-1175
Fernando BacalInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.
José Eduardo KriegerInstituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A case of a 54-year-old man who underwent a heart transplant with early asymmetric hypertrophy unrelated to rejection. Donor's genetic analysis revealed a variant in folliculin gene, associated with Birt-Hogg-Dubé Syndrome. Screening of the donor's family uncovered a similar hypertrophy and same genetic variant in the donor's father. Although genetic evaluation of donors' tissues is not routine, it can be crucial for understanding changes unrelated to the transplant procedure and identifying carriers of pathogenic variants.

Indexed as

Birt-Hogg-Dube SyndromeHeart TransplantationHumansMaleMiddle AgedProto-Oncogene ProteinsTissue DonorsTransplant RecipientsTumor Suppressor ProteinsFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor Proteins

Identifiers

PMID40332209
PMCPMC12133066

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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.