Andreas Martinsson1, Xinjun Li2, Bengt Zöller2, Pontus Andell2, Charlotte Andersson2, Kristina Sundquist2, J Gustav Smith2. 1. From the Department of Cardiology, Clinical Sciences (A.M., P.A., J.G.S.) and Center for Primary Health Care Research (X.L., B.Z., K.S.), Lund University, Sweden; Skåne University Hospital, Lund, Sweden (A.M., P.A., J.G.S.); Department of Cardiology, Copenhagen University Hospital Gentofte, Hellerup, Denmark (C.A.); and Department of Family Medicine and Community Health and Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY (K.S.). andreas.martinsson@med.lu.se. 2. From the Department of Cardiology, Clinical Sciences (A.M., P.A., J.G.S.) and Center for Primary Health Care Research (X.L., B.Z., K.S.), Lund University, Sweden; Skåne University Hospital, Lund, Sweden (A.M., P.A., J.G.S.); Department of Cardiology, Copenhagen University Hospital Gentofte, Hellerup, Denmark (C.A.); and Department of Family Medicine and Community Health and Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY (K.S.).
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 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.
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.
Authors: Jonas F Ludvigsson; Eva Andersson; Anders Ekbom; Maria Feychting; Jeong-Lim Kim; Christina Reuterwall; Mona Heurgren; Petra Otterblad Olausson Journal: BMC Public Health Date: 2011-06-09 Impact factor: 3.295
Authors: Pontus Andell; Xinjun Li; Andreas Martinsson; Charlotte Andersson; Martin Stagmo; Bengt Zöller; Kristina Sundquist; J Gustav Smith Journal: Heart Date: 2017-04-21 Impact factor: 5.994
Authors: Nicolas Perrot; Sébastien Thériault; Christian Dina; Hao Yu Chen; S Matthijs Boekholdt; Sidwell Rigade; Audrey-Anne Després; Anthony Poulin; Romain Capoulade; Thierry Le Tourneau; David Messika-Zeitoun; Mikaël Trottier; Michel Tessier; Jean Guimond; Maxime Nadeau; James C Engert; Kay-Tee Khaw; Nicholas J Wareham; Marc R Dweck; Patrick Mathieu; Philippe Pibarot; Jean-Jacques Schott; George Thanassoulis; Marie-Annick Clavel; Yohan Bossé; Benoit J Arsenault Journal: JAMA Cardiol Date: 2019-07-01 Impact factor: 14.676