Familial Aggregation of Calcific Aortic Valve Stenosis in the Western Part of France
Abstract
Background— Calcific aortic valve stenosis (CAVS) is the most common valvular defect in developed countries. Unlike mitral valve prolapse, there is no demonstration that a familial factor could play a role in the occurrence of this disease. The aim of this study was to demonstrate a familial aggregation for CAVS. Methods and Results— We used the files of 2527 consecutive patients operated on for CAVS in our institution between 1992 and 2002 to map the distribution of operated CAVS in the western part of France. In a second step, we investigated clinically and genealogically the clusters with the highest rates of operated CAVS to detect familial forms of the disease. The geographic distribution of CAVS is highly heterogeneous, with an average frequency of operated CAVS of 1.13 per 1000 inhabitants but up to 9.38 per 1000 in specific parishes. A screening of the population from the parishes with the highest rate of operated CAVS allowed us to identify 5 families with ≥3 sibs affected by CAVS. A large genealogical analysis performed in one of these families allowed us to link 48 patients who derived from 34 nuclear families. Genealogical information could be traced to a common ancestor within 13 generations. Conclusions— Identification of clusters and large families affected by a classic form of CAVS demonstrates a familial aggregation for this disease.
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The geographic distribution of calcific aortic stenosis is heterogeneous and shows clustering that is probably due to genetic factors.
“The geographical distribution of calcific AS is heterogeneous and displays a clustering effect which is probably the consequence of genetic factors17.”
From Calcific aortic stenosis (2016) · cites this paper as [17]
Several studies suggest a genetic component is involved in promoting calcific AS associated with bicuspid or tricuspid aortic valves.
“Several studies suggest that a genetic component is involved in promoting calcific AS associated with bicuspid or tricuspid aortic valves6;17;48;145.”
From Calcific aortic stenosis (2016) · cites this paper as [17]
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References 21 · Cited by 97
- Authors
- Probst, V., Le Scouarnec, S., Legendre, A., Jousseaume, V., Jaafar, P., Nguyen, J.-M., Chaventré, A., Le Marec, H., & Schott, J.-J.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- From l’Institut du thorax, Service de Cardiologie, Nantes (V.P., A.L., P.J., H. L M.); Institut du Thorax, INSERM U533, Nantes (V.P., S.L.S., A.C., H.L.M., J.-J.S.); CNRS CESTAN, Nantes (V.J.); PIMESP, Centre Hospitalier Universitaire de Nantes, Nantes (J.-M.N.); and Laboratoire D’étude de Génétique des Populations, Université de Bordeaux, Bordeaux (A.C.), France.
- Venue
- Circulation
- Published
- 2006-02-14
- Volume
- 113
- Issue
- 6
- Pages
- 856-860
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W1998409913
- Cited by
- 97
- References
- 21
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 3 · 2023: 5 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 7 · 2018: 6 · 2017: 7 · 2016: 4 · 2015: 7 · 2014: 3 · 2013: 6 · 2012: 7
- FWCI
- 4.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac Valve Diseases and Treatments
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Aortic Disease and Treatment Approaches
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Streptococcal Infections and Treatments
- Keywords
- calcific aortic stenosis, familial aggregation, geographic clustering, genealogical analysis, family history, Western France
- MeSH terms
- Aortic Valve Stenosis, Calcinosis, Family Health, Female, France, Genealogy and Heraldry, Geography, Humans, Male, Pedigree, Retrospective Studies, Cluster Analysis, Founder Effect
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