Heart failure & cardiomyopathiesCross-sectional study

Rare Variant Genetics and Dilated Cardiomyopathy Severity: The Dilated Cardiomyopathy (DCM) Precision Medicine Study

CirculationPublished

  • Cross-sectional study
  • multisite
  • multinomial models with generalized logit link

Authors' conclusion

Advanced DCM was associated with higher odds of rare variants in DCM genes adjudicated as pathogenic or likely pathogenic, compared with individuals with less severe DCM.

Study context

Population
Patients with DCM in the US multisite DCM Precision Medicine Study, enrolled 2016–2021; multiracial, multiethnic cohort
Participants
1,198 patients
Exposure
Rare variant genetic findings by DCM severity
  • LVAD/HTn = 347
  • Implantable cardioverter defibrillator (ICD)n = 511
  • No LVAD/HT or ICDn = 340reference
Outcome
Pathogenic or likely pathogenic rare variants in 36 DCM genes

Main finding

Pathogenic or likely pathogenic variants

Odds ratio

2.3

95% CI 1.5–3.6

By group

LVAD/HT vs No LVAD/HT or ICD
OR 2.3 (95% CI 1.5–3.6)

As reported in the abstract

Observational data: associations, not effects.

Original publication

Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. Circulation. Published 29 August 2023. doi:10.1161/circulationaha.123.064847

Summarised from the published abstract; every number is checked against it