Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Ghislaine Plessis, Aline Vincent, Fabien Labombarda, Pascale Maragnes, Julian Delanne, Matthias Muller, Christine Coubes, Charlene Bredy, Laurent Gouya, Sylvie Odent, Adeline Basquin, Sophie Dupuis-Girod, Martine Barthelet, Emmanuelle Ginglinger, Bruno Delobel, Guy Vaksmann, Jean-Luc Alessandri, Louis André Arsac, Edouard Thomas, Sophie Julia, Bertrand Chesneau, Yves Dulac, Bert Callewaert, Bart Loeys, Maxim Vaerle, Leonie A Menke, Maarten Groenink, Lesley Ades, Maria Juliana Ballesta-Martinez, Alan L Shanske, Sigrid Tinschert, Petra Gehle, Christel Thauvin-Robinet, Jean-Christophe Eicher, Sylvie Falcon-Eicher, Catherine Boileau, Christine Binquet, Nadine Hanna, Laurence Faivre
{"title":"Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.","authors":"Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, Dominique Bonneau, Frédéric Rouleau, Ghislaine Plessis, Aline Vincent, Fabien Labombarda, Pascale Maragnes, Julian Delanne, Matthias Muller, Christine Coubes, Charlene Bredy, Laurent Gouya, Sylvie Odent, Adeline Basquin, Sophie Dupuis-Girod, Martine Barthelet, Emmanuelle Ginglinger, Bruno Delobel, Guy Vaksmann, Jean-Luc Alessandri, Louis André Arsac, Edouard Thomas, Sophie Julia, Bertrand Chesneau, Yves Dulac, Bert Callewaert, Bart Loeys, Maxim Vaerle, Leonie A Menke, Maarten Groenink, Lesley Ades, Maria Juliana Ballesta-Martinez, Alan L Shanske, Sigrid Tinschert, Petra Gehle, Christel Thauvin-Robinet, Jean-Christophe Eicher, Sylvie Falcon-Eicher, Catherine Boileau, Christine Binquet, Nadine Hanna, Laurence Faivre","doi":"10.1136/jmg-2024-110341","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics.</p><p><strong>Methods: </strong>We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS.</p><p><strong>Results: </strong>The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036).</p><p><strong>Conclusion: </strong>Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"600-606"},"PeriodicalIF":3.7000,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418575/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/jmg-2024-110341","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Shprintzen-Goldberg syndrome (SGS) shares skeletal features with Marfan syndrome (MFS), but differs in its craniofacial and neurodevelopmental features. Cardiovascular features have been specifically investigated in few of the 57 known patients with SGS described in the literature, making it difficult to determine their prevalence and characteristics.
Methods: We reviewed the medical records of an international cohort of 29 patients, with a particular focus on cardiovascular features. Data were compared with those of MFS.
Results: The sex ratio was 1.9 and median age was 23 years (range: 4-54). 13 patients (44.8%) had mitral regurgitation (MR), 11 (37.9%) had a thoracic aortic aneurysm (TAA) and 9 (31.1%) had aortic regurgitation (AR). No cases of aortic dissection were reported. None had beta-blockers as a primary prevention of aortic events. The Kaplan-Meier method revealed a 30 years risk of 47%, 33% and 22% for occurrence of MR, TAA and AR, respectively. A statistically significant association was found between variants in the Dachshund Homology Domain and the risk of aortic aneurysm (11/20 vs 0/9, p=0.036).
Conclusion: Patients with SGS also significantly have cardiovascular manifestations, encouraging the implementation of a follow-up and preventive cardiovascular treatment identical to that of MFS.
期刊介绍:
Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.