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, Sandrigo Mangini, Monica S Avila, Fernando Bacal, José Eduardo Krieger
{"title":"揭示遗传之谜：心脏移植受体的不对称肥厚与伯特-霍格-杜伯斯综合征有关。","authors":"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, Sandrigo Mangini, Monica S Avila, Fernando Bacal, José Eduardo Krieger","doi":"10.36660/abc.20240444","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":93887,"journal":{"name":"Arquivos brasileiros de cardiologia","volume":"122 3","pages":"e20240444"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.\",\"authors\":\"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, Sandrigo Mangini, Monica S Avila, Fernando Bacal, José Eduardo Krieger\",\"doi\":\"10.36660/abc.20240444\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":93887,\"journal\":{\"name\":\"Arquivos brasileiros de cardiologia\",\"volume\":\"122 3\",\"pages\":\"e20240444\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Arquivos brasileiros de cardiologia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.36660/abc.20240444\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Arquivos brasileiros de cardiologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36660/abc.20240444","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
