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
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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. 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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. 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引用次数: 0
摘要
背景：Shprintzen-Goldberg综合征（SGS）与马凡综合征（MFS）具有相同的骨骼特征，但在颅面和神经发育特征上有所不同。在文献中描述的57例已知SGS患者中，很少有心血管特征被专门研究，因此很难确定其患病率和特征。方法：我们回顾了29例国际队列患者的医疗记录，特别关注心血管特征。将数据与MFS进行比较。结果：性别比为1.9，中位年龄为23岁（范围：4-54岁）。二尖瓣反流（MR） 13例（44.8%），胸主动脉瘤（TAA） 11例（37.9%），主动脉反流（AR） 9例（31.1%）。无主动脉夹层病例报道。没有人使用受体阻滞剂作为主动脉事件的一级预防。Kaplan-Meier方法显示30年MR、TAA和AR发生的风险分别为47%、33%和22%。Dachshund同源域的变异与主动脉瘤的风险之间存在统计学上显著的关联（11/20 vs 0/9, p=0.036）。结论：SGS患者也有明显的心血管表现，鼓励实施与MFS相同的随访和预防性心血管治疗。
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
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.
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