Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome
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.
Authors
- Bianca Domit Werner Linnenkamp (ORCID: https://orcid.org/0000-0001-9889-293X)
- Silas Ramos Furquim (ORCID: https://orcid.org/0000-0001-8727-0940)
- Mônica Samuel Ávila (ORCID: https://orcid.org/0000-0003-3712-1175)
- Mariana Lombardi Peres de Carvalho (ORCID: https://orcid.org/0000-0003-4769-8031)
- Fabiana G. Marcondes‐Braga (ORCID: https://orcid.org/0000-0002-2533-5638)
- Lucas Vieira Lacerda Pires (ORCID: https://orcid.org/0000-0001-8649-976X)
- Fernando Bacal (ORCID: https://orcid.org/0000-0001-7603-2752)
- Emanuelle Ferreira Marques (ORCID: https://orcid.org/0009-0002-5146-9645)
- Luciana Sacilotto (ORCID: https://orcid.org/0000-0002-3679-5349)
- Nara Alves Buriti
- Luís Fernando Bernal da Costa Seguro (ORCID: https://orcid.org/0000-0002-7857-9863)
- I.W. Campos (ORCID: https://orcid.org/0000-0002-8822-5997)
- Sandrigo Mangini (ORCID: https://orcid.org/0000-0003-0894-1131)
- José Eduardo Krieger (ORCID: https://orcid.org/0000-0001-5464-1792)
Institutions
- Universidade de São Paulo (BR)
- Universidade Brasil (BR)
Publication Details
- Journal
- Arquivos Brasileiros de Cardiologia
- Published
- 2025-03-01
- DOI
- https://doi.org/10.36660/abc.20240444i
- Primary Topic
- Metalloenzymes and iron-sulfur proteins
- Type
- article
- Field-Weighted Citation Impact
- 0.00