Congenital heart diseaseCase-control study

Congenital heart defects: familial recurrence patterns in Sweden

Eur Heart JPublished

  • Case-control study
  • retrospective
  • population-based
  • nationwide registers
  • matched controls

Authors' conclusion

Congenital heart defect in a relative (parent, full or half-siblings, or offspring) is associated with CHD in the index individual, with recurrence patterns varying by kinship and number of affected relatives.

Study context

Population
Individuals born in Sweden 1987–2017 and their relatives (parents, full siblings, half-siblings, offspring), national registers
Participants
51,778 vs 522,543
Comparison
Individuals with congenital heart defects (CHD) vs matched controls, by CHD in relatives
  • CHDn = 51,778
  • Controlsn = 522,543reference
Outcome
Familial recurrence of CHD (CHD in index individual by affected relative)

Main finding

As reported in the abstract

CHD in index individual by affected relative(s)
Odds ratio (95% CI)
At least one affected relative vs Controls
2.71(2.60–2.83)
Each additional affected relativeOR per relative
2.55(2.46–2.64)

OR

mothers vs Controls
3.12
full siblings vs Controls
3.22
offspring vs Controls
3.18

Observational data: associations, not effects.

Further findings

Dose-response by number of affected siblings and offspring

Dose-response observed

Maternal comorbidities (diabetes, hypertension, obesity)

Association of maternal CHD with CHD in index not explained by maternal comorbidities

Original publication

Congenital heart defects: familial recurrence patterns in Sweden. Eur Heart J. Published 8 January 2026. doi:10.1093/eurheartj/ehaf1048

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