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.
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