Heart failure & cardiomyopathies
Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy–Related Cardiomyopathies
An erratum to this article was published (JAMA Cardiol, 1 Nov 2025 ↗)
Authors' conclusion
In this cohort study, individuals with PPCM, ACM, and CCM were enriched for monogenic DCM variants and a high DCM polygenic score, suggesting a shared genetic susceptibility influenced by distinct environmental precipitants.
Study context
- Population
- Individuals with secondary cardiomyopathies (peripartum, alcohol-induced, cancer therapy-related) in Mass General Brigham (MGB) Biobank, UK Biobank, FinnGen and Million Veteran Program3,414 secondary cardiomyopathy cases
- Exposure
- Dilated cardiomyopathy (DCM) polygenic risk score and DCM monogenic variants vs secondary cardiomyopathies
- Outcome
- Association of the DCM polygenic risk score with PPCM, ACM and CCM; prevalence of monogenic variants and a high polygenic score among individuals with cardiomyopathy
Methodological detailsmulticohort, replication in 3 cohorts, MGB Biobank n = 42 137, 2008-2025; replication in UK Biobank (n = 295 160), FinnGen (n = 417 950), Million Veteran Program (n = 516 066)
- Multicohort
- Replication in 3 cohorts
- MGB Biobank n = 42 137, 2008-2025; replication in UK Biobank (n = 295 160), FinnGen (n = 417 950), Million Veteran Program (n = 516 066)
Main finding
As reported in the abstract
Association of DCM polygenic score with secondary cardiomyopathy
Estimate (95% CI)P value
PPCM70 cases
OR per SD 1.82(1.43–2.30)
P < 0.001ACM2281 cases
OR 1.56(1.34–1.82)
P < 0.001CCM1063 cases
OR 1.64(1.24–2.15)
P < 0.001- Monogenic variants in individuals with medical record-reviewed cardiomyopathy in MGB
- 7 of 113
- High polygenic score in individuals with medical record-reviewed cardiomyopathy in MGB (≈3-fold increased odds)
- 66
Observational data: associations, not effects.
Further findings
- Most individuals with cardiomyopathy lacked antecedent clinical risk factors
Original publication
Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy–Related Cardiomyopathies. JAMA Cardiol. Published 1 November 2025. doi:10.
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