Familial risk of dilated and hypertrophic cardiomyopathy: a national family study in Sweden

Fabrizio Ricci, Behzad Banihashemi, Mirnabi Pirouzifard, Jan Sundquist, Kristina Sundquist, Richard Sutton, Artur Fedorowski, Bengt Zöller

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Aims: This study aims to determine the familial incidence of dilated (DCM) and hypertrophic cardiomyopathy (HCM) in first-degree, second-degree, and third-degree relatives of affected individuals. Methods and results: In this population-based multigenerational cohort study, full-siblings, half-siblings, and cousin pairs born to Swedish parents between 1932 and 2015 were included, and register-based DCM and HCM diagnoses among relatives were ascertained. Adjusted odds ratios (ORs) for DCM and HCM were calculated for relatives of individuals with DCM and HCM compared with relatives of individuals without DCM and HCM for reference. Total study population included 6 334 979 subjects and consisted of 5 577 449 full-siblings, 1 321 414 half-siblings, and 3 952 137 cousins. Overall, 10 272 (0.16%) unique individuals were diagnosed with DCM and 3769 (0.06%) with HCM. Of these, 7716 (75.12%) and 2375 (63.01%) were males, respectively. Familial risk ORs for DCM were 5.35 [95% confidence intervals (CI): 4.85–5.90] for full-siblings, 2.68 (95% CI:1.86–3.87) for half-siblings, and 1.72 (95% CI:1.12–2.64) for cousins of affected individuals. The ORs for HCM were 42.44 (95% CI:37.66–47.82) for full-siblings, 32.70 (95% CI:21.32–50.15) for half-siblings, and 36.96 (95% CI:29.50–46.31) for cousins of affected individuals. In sex-stratified analysis, relatives of affected females were found more likely to be affected than were relatives of affected males, with stronger aggregation observed for HCM. Conclusions: Familial risk of HCM and DCM is high and associated with genetic resemblance, with strongest aggregations observed in relatives of affected females with HCM, whereas this association was distinctly attenuated for DCM. The finding of a Carter effect, more pronounced in HCM, suggests a multifactorial threshold model of inheritance.

Original languageEnglish
Pages (from-to)121-132
Number of pages12
JournalESC heart failure
Issue number1
StatePublished - Feb 2023
Externally publishedYes


  • Dilated cardiomyopathy
  • Epidemiology
  • Familial risk
  • Heart muscle disease
  • Hypertrophic cardiomyopathy
  • Inherited cardiomyopathies


Dive into the research topics of 'Familial risk of dilated and hypertrophic cardiomyopathy: a national family study in Sweden'. Together they form a unique fingerprint.

Cite this