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Familial Aggregation of Aortic Valvular Stenosis : A Nationwide Study of Sibling Risk

Martinsson, Andreas LU ; Li, Xinjun LU ; Zöller, Bengt LU orcid ; Andell, Pontus LU ; Andersson, Charlotte LU ; Sundquist, Kristina LU and Smith, J. Gustav LU (2017) In Circulation: Cardiovascular Genetics 10(6).
Abstract

Background - Aortic valvular stenosis (AS) is the most common cause of cardiac valvular replacement surgery. During the last century, the pathogenesis of AS has undergone transitions in developed countries, from rheumatic heart disease to a degenerative calcific pathogenesis. Although a familial component has been described for a subset of cases with a bicuspid valve, data are limited on the overall familial aggregation of this disease. Methods and Results - Contemporary information on 6 117 263 Swedish siblings, of which 13 442 had a clinical diagnosis of AS, was collected from the nationwide Swedish Multi-Generation Register and the National Patient Register. A total of 4.8% of AS cases had a sibling history of AS. Having at least 1... (More)

Background - Aortic valvular stenosis (AS) is the most common cause of cardiac valvular replacement surgery. During the last century, the pathogenesis of AS has undergone transitions in developed countries, from rheumatic heart disease to a degenerative calcific pathogenesis. Although a familial component has been described for a subset of cases with a bicuspid valve, data are limited on the overall familial aggregation of this disease. Methods and Results - Contemporary information on 6 117 263 Swedish siblings, of which 13 442 had a clinical diagnosis of AS, was collected from the nationwide Swedish Multi-Generation Register and the National Patient Register. A total of 4.8% of AS cases had a sibling history of AS. Having at least 1 sibling with AS was associated with a hazard ratio of 3.41 (95% confidence interval, 2.23-5.21) to be diagnosed with AS in an adjusted model. Individuals with >1 sibling with AS had an exceptionally high risk (hazard ratio, 32.84) but were uncommon (34 siblings from 11 sibships). In contrast, spouses of subjects with AS were only slightly more likely to be diagnosed with AS compared with subjects without spousal AS (hazard ratio 1.16 for husbands and 1.18 for wives). Conclusions - A sibling history of clinically diagnosed AS was associated with increased risk of AS. Spouses of patients with AS only had a modest risk increase, suggesting that shared adult environmental factors contribute less to the development of AS than genetic factors.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
aortic valve stenosis, risk, siblings, valvular heart diseases
in
Circulation: Cardiovascular Genetics
volume
10
issue
6
article number
e001742
publisher
American Heart Association
external identifiers
  • scopus:85038624667
  • pmid:29242201
  • wos:000418461400011
ISSN
1942-325X
DOI
10.1161/CIRCGENETICS.117.001742
language
English
LU publication?
yes
id
c3446e00-f8cd-470e-aa67-a89e7e9699c4
date added to LUP
2018-01-11 14:58:34
date last changed
2024-04-15 01:02:40
@article{c3446e00-f8cd-470e-aa67-a89e7e9699c4,
  abstract     = {{<p>Background - Aortic valvular stenosis (AS) is the most common cause of cardiac valvular replacement surgery. During the last century, the pathogenesis of AS has undergone transitions in developed countries, from rheumatic heart disease to a degenerative calcific pathogenesis. Although a familial component has been described for a subset of cases with a bicuspid valve, data are limited on the overall familial aggregation of this disease. Methods and Results - Contemporary information on 6 117 263 Swedish siblings, of which 13 442 had a clinical diagnosis of AS, was collected from the nationwide Swedish Multi-Generation Register and the National Patient Register. A total of 4.8% of AS cases had a sibling history of AS. Having at least 1 sibling with AS was associated with a hazard ratio of 3.41 (95% confidence interval, 2.23-5.21) to be diagnosed with AS in an adjusted model. Individuals with &gt;1 sibling with AS had an exceptionally high risk (hazard ratio, 32.84) but were uncommon (34 siblings from 11 sibships). In contrast, spouses of subjects with AS were only slightly more likely to be diagnosed with AS compared with subjects without spousal AS (hazard ratio 1.16 for husbands and 1.18 for wives). Conclusions - A sibling history of clinically diagnosed AS was associated with increased risk of AS. Spouses of patients with AS only had a modest risk increase, suggesting that shared adult environmental factors contribute less to the development of AS than genetic factors.</p>}},
  author       = {{Martinsson, Andreas and Li, Xinjun and Zöller, Bengt and Andell, Pontus and Andersson, Charlotte and Sundquist, Kristina and Smith, J. Gustav}},
  issn         = {{1942-325X}},
  keywords     = {{aortic valve stenosis; risk; siblings; valvular heart diseases}},
  language     = {{eng}},
  month        = {{12}},
  number       = {{6}},
  publisher    = {{American Heart Association}},
  series       = {{Circulation: Cardiovascular Genetics}},
  title        = {{Familial Aggregation of Aortic Valvular Stenosis : A Nationwide Study of Sibling Risk}},
  url          = {{http://dx.doi.org/10.1161/CIRCGENETICS.117.001742}},
  doi          = {{10.1161/CIRCGENETICS.117.001742}},
  volume       = {{10}},
  year         = {{2017}},
}