Cardiovascular manifestations in men and women carrying a FBN1 mutation
Identifieur interne : 002791 ( Istex/Curation ); précédent : 002790; suivant : 002792Cardiovascular manifestations in men and women carrying a FBN1 mutation
Auteurs : Delphine Détaint [France] ; Laurence Faivre [France] ; Gwenaelle Collod-Beroud [France] ; Anne H. Child [Royaume-Uni] ; Bart L. Loeys [Belgique] ; Christine Binquet [France] ; Elodie Gautier [France] ; Eloisa Arbustini [Italie] ; Karin Mayer [Allemagne] ; Mine Arslan-Kirchner [Allemagne] ; Chantal Stheneur [France] ; Dorothy Halliday [Royaume-Uni] ; Christophe Beroud [France] ; Claire Bonithon-Kopp [France] ; Mireille Claustres [France] ; Henri Plauchu [France] ; Peter N. Robinson [Allemagne] ; Anatoli Kiotsekoglou [Royaume-Uni] ; Julie De Backer [Belgique] ; Lesley Adès [Australie] ; Uta Francke [États-Unis] ; Anne De Paepe [Belgique] ; Catherine Boileau [France] ; Guillaume Jondeau [France]Source :
- European Heart Journal [ 0195-668X ] ; 2010-09.
Abstract
Aims In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation. Methods and results A total of 1013 probands with pathogenic FBN1 mutations were included, among whom 965 patients [median age: 22 years (11–34), male gender 53%] had data suitable for analysis. The percentage of patients with an ascending aortic (AA) dilatation increased steadily with increasing age and reached 96% (95% CI: 94–97%) by 60 years. The presence of aortic events (dissection or prophylactic surgery) was rare before 20 years and then increased progressively, reaching 74% (95% CI: 67–81%) by 60 years. Compared with women, men were at higher risk for AA dilatation [≤30 years: 57% (95% CI: 52–63) vs. 50% (95% CI: 45–55), P = 0.0076] and aortic events [≤30 years: 21% (95% CI: 17–26) vs. 11% (95% CI: 8–16), P < 0.0001; adjusted HR: 1.4 (1.1–1.8), P = 0.005]. The prevalence of mitral valve (MV) prolapse [≤60 years: 77% (95% CI: 72–82)] and MV regurgitation [≤60 years: 61% (95% CI: 53–69)] also increased steadily with age, but surgery limited to the MV remained rare [≤60 years: 13% (95% CI: 8–21)]. No difference between genders was observed (for all P> 0.20). From 1985 to 2005 the prevalence of AA dilatation remained stable (P for trend = 0.88), whereas the percentage of patients with AA dissection significantly decreased (P for trend = 0.01). Conclusion The CV risk remains important in patients with an FBN1 gene mutation and is present throughout life, justifying regular aortic monitoring. Aortic dilatation or dissection should always trigger suspicion of a genetic background leading to thorough examination for extra-aortic features and comprehensive pedigree investigation.
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DOI: 10.1093/eurheartj/ehq258
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Delphine Détaint<affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: delphine.detaint@bch.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation>Le document en format XML
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Diseases, Foundation IRCCS Policlinico San Matteo, Pavia, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Mayer, Karin" sort="Mayer, Karin" uniqKey="Mayer K" first="Karin" last="Mayer">Karin Mayer</name><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics and Laboratory Medicine, Martinsried, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Human Genetics and Laboratory Medicine, Martinsried</wicri:regionArea></affiliation></author><author><name sortKey="Arslan Kirchner, Mine" sort="Arslan Kirchner, Mine" uniqKey="Arslan Kirchner M" first="Mine" last="Arslan-Kirchner">Mine Arslan-Kirchner</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Hannover Medical School, Hannover, 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University of Oxford, Oxford</wicri:regionArea></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier I, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier I, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000</wicri:regionArea></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name><affiliation wicri:level="1"><mods:affiliation>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, CIE1, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, CIE1, Dijon F-21000</wicri:regionArea></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier I, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier I, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000</wicri:regionArea></affiliation></author><author><name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name><affiliation wicri:level="1"><mods:affiliation>Hôtel Dieu, Service de Génétique, Lyon F-69, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôtel Dieu, Service de Génétique, Lyon F-69</wicri:regionArea></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation wicri:level="1"><mods:affiliation>Institut für Medizinische Genetik, Universitätsmedizin Charité, Berlin, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Medizinische Genetik, Universitätsmedizin Charité, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Kiotsekoglou, Anatoli" sort="Kiotsekoglou, Anatoli" uniqKey="Kiotsekoglou A" first="Anatoli" last="Kiotsekoglou">Anatoli Kiotsekoglou</name><affiliation wicri:level="1"><mods:affiliation>Department of Cardic and vascular Sciences, St. George's Hospital, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardic and vascular Sciences, St. George's Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="De Backer, Julie" sort="De Backer, Julie" uniqKey="De Backer J" first="Julie" last="De Backer">Julie De Backer</name><affiliation wicri:level="1"><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Adès">Lesley Adès</name><affiliation wicri:level="1"><mods:affiliation>Marfan Research Group, The Children's Hospital at Westmead, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Marfan Research Group, The Children's Hospital at Westmead, Sydney</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Francke, Uta" sort="Francke, Uta" uniqKey="Francke U" first="Uta" last="Francke">Uta Francke</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics, Stanford University Medical Center, Stanford, CA, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University Medical Center, Stanford, CA</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Stanford University Medical Center, Stanford, CA</wicri:regionArea></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation wicri:level="1"><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire, Boulogne F-92000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire, Boulogne F-92000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Versailles-Saint Quentin en Yvelines, UFR P.I.F.O, Garches F-92380, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Versailles-Saint Quentin en Yvelines, UFR P.I.F.O, Garches F-92380</wicri:regionArea></affiliation></author><author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F-75018, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F-75018</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM U698, Faculté Bichat, Paris VII, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U698, Faculté Bichat, Paris VII, Paris</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:D589EE8CE732225960FF3B8C6D5CB1139EFE7C88</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1093/eurheartj/ehq258</idno><idno type="url">https://api.istex.fr/document/D589EE8CE732225960FF3B8C6D5CB1139EFE7C88/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002791</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002791</idno><idno type="wicri:Area/Istex/Curation">002791</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Cardiovascular manifestations in men and women carrying a FBN1 mutation</title><author><name sortKey="Detaint, Delphine" sort="Detaint, Delphine" uniqKey="Detaint D" first="Delphine" last="Détaint">Delphine Détaint</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F-75018, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F-75018</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: delphine.detaint@bch.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation><affiliation><mods:affiliation></mods:affiliation><wicri:noCountry code="syntax">???</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: delphine.detaint@bch.aphp.fr</mods:affiliation><country wicri:rule="url">France</country></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="1"><mods:affiliation>CHU Dijon, Centre de Génétique, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Dijon, Centre de Génétique, Dijon F-21000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000</wicri:regionArea></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier I, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier I, Montpellier F-34000</wicri:regionArea></affiliation></author><author><name sortKey="Child, Anne H" sort="Child, Anne H" uniqKey="Child A" first="Anne H." last="Child">Anne H. Child</name><affiliation wicri:level="1"><mods:affiliation>Department of Cardic and vascular Sciences, St. George's Hospital, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardic and vascular Sciences, St. George's Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="Loeys, Bart L" sort="Loeys, Bart L" uniqKey="Loeys B" first="Bart L." last="Loeys">Bart L. Loeys</name><affiliation wicri:level="1"><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Binquet, Christine" sort="Binquet, Christine" uniqKey="Binquet C" first="Christine" last="Binquet">Christine Binquet</name><affiliation wicri:level="1"><mods:affiliation>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, CIE1, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, CIE1, Dijon F-21000</wicri:regionArea></affiliation></author><author><name sortKey="Gautier, Elodie" sort="Gautier, Elodie" uniqKey="Gautier E" first="Elodie" last="Gautier">Elodie Gautier</name><affiliation wicri:level="1"><mods:affiliation>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, CIE1, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, CIE1, Dijon F-21000</wicri:regionArea></affiliation></author><author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name><affiliation wicri:level="1"><mods:affiliation>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo, Pavia, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Centre for Inherited Cardiovascular Diseases, Foundation IRCCS Policlinico San Matteo, Pavia</wicri:regionArea></affiliation></author><author><name sortKey="Mayer, Karin" sort="Mayer, Karin" uniqKey="Mayer K" first="Karin" last="Mayer">Karin Mayer</name><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics and Laboratory Medicine, Martinsried, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Human Genetics and Laboratory Medicine, Martinsried</wicri:regionArea></affiliation></author><author><name sortKey="Arslan Kirchner, Mine" sort="Arslan Kirchner, Mine" uniqKey="Arslan Kirchner M" first="Mine" last="Arslan-Kirchner">Mine Arslan-Kirchner</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Hannover Medical School, Hannover, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Hannover Medical School, Hannover</wicri:regionArea></affiliation></author><author><name sortKey="Stheneur, Chantal" sort="Stheneur, Chantal" uniqKey="Stheneur C" first="Chantal" last="Stheneur">Chantal Stheneur</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne F-92000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Ambroise Paré, Service de Pédiatrie, Boulogne F-92000</wicri:regionArea></affiliation></author><author><name sortKey="Halliday, Dorothy" sort="Halliday, Dorothy" uniqKey="Halliday D" first="Dorothy" last="Halliday">Dorothy Halliday</name><affiliation wicri:level="1"><mods:affiliation>Department of Biochemistry, University of Oxford, Oxford, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Biochemistry, University of Oxford, Oxford</wicri:regionArea></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier I, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier I, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000</wicri:regionArea></affiliation></author><author><name sortKey="Bonithon Kopp, Claire" sort="Bonithon Kopp, Claire" uniqKey="Bonithon Kopp C" first="Claire" last="Bonithon-Kopp">Claire Bonithon-Kopp</name><affiliation wicri:level="1"><mods:affiliation>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Dijon, Centre d'investigation clinique – épidémiologie clinique/essais cliniques, Dijon F-21000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM, CIE1, Dijon F-21000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, CIE1, Dijon F-21000</wicri:regionArea></affiliation></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name><affiliation wicri:level="1"><mods:affiliation>INSERM, U827, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, U827, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Montpellier I, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Montpellier I, Montpellier F-34000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CHU Montpellier, Hôpital Arnaud de Villeneuve, Laboratoire de Génétique Moléculaire, Montpellier F-34000</wicri:regionArea></affiliation></author><author><name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name><affiliation wicri:level="1"><mods:affiliation>Hôtel Dieu, Service de Génétique, Lyon F-69, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôtel Dieu, Service de Génétique, Lyon F-69</wicri:regionArea></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation wicri:level="1"><mods:affiliation>Institut für Medizinische Genetik, Universitätsmedizin Charité, Berlin, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Medizinische Genetik, Universitätsmedizin Charité, Berlin</wicri:regionArea></affiliation></author><author><name sortKey="Kiotsekoglou, Anatoli" sort="Kiotsekoglou, Anatoli" uniqKey="Kiotsekoglou A" first="Anatoli" last="Kiotsekoglou">Anatoli Kiotsekoglou</name><affiliation wicri:level="1"><mods:affiliation>Department of Cardic and vascular Sciences, St. George's Hospital, London, UK</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cardic and vascular Sciences, St. George's Hospital, London</wicri:regionArea></affiliation></author><author><name sortKey="De Backer, Julie" sort="De Backer, Julie" uniqKey="De Backer J" first="Julie" last="De Backer">Julie De Backer</name><affiliation wicri:level="1"><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Adès">Lesley Adès</name><affiliation wicri:level="1"><mods:affiliation>Marfan Research Group, The Children's Hospital at Westmead, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Marfan Research Group, The Children's Hospital at Westmead, Sydney</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Francke, Uta" sort="Francke, Uta" uniqKey="Francke U" first="Uta" last="Francke">Uta Francke</name><affiliation wicri:level="1"><mods:affiliation>Department of Genetics, Stanford University Medical Center, Stanford, CA, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Genetics, Stanford University Medical Center, Stanford, CA</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Stanford University Medical Center, Stanford, CA</wicri:regionArea></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation wicri:level="1"><mods:affiliation>Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, Ghent</wicri:regionArea></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire, Boulogne F-92000, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Ambroise Paré, Laboratoire de Génétique Moléculaire, Boulogne F-92000</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Université Versailles-Saint Quentin en Yvelines, UFR P.I.F.O, Garches F-92380, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Versailles-Saint Quentin en Yvelines, UFR P.I.F.O, Garches F-92380</wicri:regionArea></affiliation></author><author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name><affiliation wicri:level="1"><mods:affiliation>AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F-75018, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>AP-HP, Hôpital Bichat, Consultation pluridisciplinaire Syndrome de Marfan et apparentés, Paris F-75018</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>INSERM U698, Faculté Bichat, Paris VII, Paris, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U698, Faculté Bichat, Paris VII, Paris</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">European Heart Journal</title><idno type="ISSN">0195-668X</idno><idno type="eISSN">1522-9645</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2010-09">2010-09</date><biblScope unit="volume">31</biblScope><biblScope unit="issue">18</biblScope><biblScope unit="page" from="2223">2223</biblScope><biblScope unit="page" to="2229">2229</biblScope></imprint><idno type="ISSN">0195-668X</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0195-668X</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Aims In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation. Methods and results A total of 1013 probands with pathogenic FBN1 mutations were included, among whom 965 patients [median age: 22 years (11–34), male gender 53%] had data suitable for analysis. The percentage of patients with an ascending aortic (AA) dilatation increased steadily with increasing age and reached 96% (95% CI: 94–97%) by 60 years. The presence of aortic events (dissection or prophylactic surgery) was rare before 20 years and then increased progressively, reaching 74% (95% CI: 67–81%) by 60 years. Compared with women, men were at higher risk for AA dilatation [≤30 years: 57% (95% CI: 52–63) vs. 50% (95% CI: 45–55), P = 0.0076] and aortic events [≤30 years: 21% (95% CI: 17–26) vs. 11% (95% CI: 8–16), P < 0.0001; adjusted HR: 1.4 (1.1–1.8), P = 0.005]. The prevalence of mitral valve (MV) prolapse [≤60 years: 77% (95% CI: 72–82)] and MV regurgitation [≤60 years: 61% (95% CI: 53–69)] also increased steadily with age, but surgery limited to the MV remained rare [≤60 years: 13% (95% CI: 8–21)]. No difference between genders was observed (for all P> 0.20). From 1985 to 2005 the prevalence of AA dilatation remained stable (P for trend = 0.88), whereas the percentage of patients with AA dissection significantly decreased (P for trend = 0.01). Conclusion The CV risk remains important in patients with an FBN1 gene mutation and is present throughout life, justifying regular aortic monitoring. Aortic dilatation or dissection should always trigger suspicion of a genetic background leading to thorough examination for extra-aortic features and comprehensive pedigree investigation.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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