Heart failure & cardiomyopathiesCohort study
Genetic Testing After Heart Transplantation Uncovers Heritable Disease and Drives Family Screening
- nationwide, multicenter retrospective study
- 12 Spanish centers
- Genetic testing (GT) results centrally adjudicated using American College of Medical Genetics and Genomics criteria
Authors' conclusion
GT remains clinically actionable after HTx, enabling etiologic reclassification and driving cascade screening. These findings support systematic GT in HTx recipients with CM, including those with prior environmental triggers or second-hit etiologies, and regardless of time from transplantation.
Study context
- Population
- Adult HTx recipients transplanted for cardiomyopathy (CM) across 12 Spanish centers (2010–2023)
- Participants
- 657 HTx recipients
Main finding
As reported in the abstract
Pathogenic/likely pathogenic variant
53% (351/657)
Observational data: associations, not effects.
Further findings
Etiologic reclassification after GT
- Etiologic reclassification, all
- 35% (231/657)
- Etiologic reclassification when GT performed post-HTx
- 42% (106/253)
Family cascade screening
- Family screening performed, of families
- 69% (224/328)
- Affected relatives identified, genotype-negative cases
- 22% (19/90)
- Affected relatives identified, genotype-positive cases
- 42% (49/107)
Genetic etiology in CM initially attributed to acquired or "second-hit" causes
- Genetic etiology identified, of CM initially attributed to acquired or "second-hit" causes
- 36% (15/42)
Genetic architecture in dilated cardiomyopathy vs ambulatory cohorts
- Lower TTN variant prevalence and enrichment of arrhythmogenic genes in transplanted patients
Original publication
Summarised from the published abstract; every number is checked against it