解开基因谜题：心脏移植受者的不对称性肥大与Birt-Hogg-Dubé综合征相关

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

作者信息

Furquim Silas Ramos, Pires Lucas Vieira Lacerda, Buriti Nara Alves, Carvalho Mariana Lombardi Peres de, Marques Emanuelle Leonilia, Linnenkamp Bianca Domit Werner, Sacilotto Luciana, Marcondes-Braga Fabiana G, Campos Iascara Wozniak de, Seguro Luis Fernando Bernal da Costa, Mangini Sandrigo, Avila Monica S, Bacal Fernando, Krieger José Eduardo

机构信息

Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brasil.

出版信息

Arq Bras Cardiol. 2025 Apr;122(3):e20240444. doi: 10.36660/abc.20240444.

DOI:10.36660/abc.20240444

PMID:40332209

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12133066/

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.

摘要

一名54岁男性接受心脏移植，出现与排斥反应无关的早期不对称性肥厚。对供体的基因分析发现卵泡抑素基因存在变异，该变异与Birt-Hogg-Dubé综合征相关。对供体家族进行筛查发现，供体的父亲也有类似的肥厚情况和相同的基因变异。虽然对供体组织进行基因评估并非常规操作，但对于理解与移植手术无关的变化以及识别致病变异携带者可能至关重要。