Familial risk of dilated and hypertrophic cardiomyopathy: a national family study in Sweden
Author(s)
Type
Journal Article
Abstract
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.
Date Issued
2023-02
Date Acceptance
2022-09-15
Citation
ESC Heart Failure, 2023, 10 (1), pp.121-132
ISSN
2055-5822
Publisher
Wiley Open Access
Start Page
121
End Page
132
Journal / Book Title
ESC Heart Failure
Volume
10
Issue
1
Copyright Statement
© 2022 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/36169166
Subjects
Dilated cardiomyopathy
Epidemiology
Familial risk
Heart muscle disease
Hypertrophic cardiomyopathy
Inherited cardiomyopathies
Publication Status
Published
Coverage Spatial
England
Date Publish Online
2022-09-28