Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.
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История · было → стало
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Bouhatous Yordi-Michaël, Arnaud Pauline, Jondeau Guillaume, Bonneau Dominique, Rouleau Frédéric, Plessis Ghislaine, Vincent Aline, Labombarda Fabien, Maragnes Pascale, Delanne Julian, Muller Matthias, Coubes Christine, Bredy Charlene, Gouya Laurent, Odent Sylvie, Basquin Adeline, Dupuis-Girod Sophie, Barthelet Martine, Ginglinger Emmanuelle, Delobel Bruno, Vaksmann Guy, Alessandri Jean-Luc, Arsac Louis André, Thomas Edouard, Julia Sophie, Chesneau Bertrand, Dulac Yves, Callewaert Bert, Loeys Bart, Vaerle Maxim, Menke Leonie A, Groenink Maarten, Ades Lesley, Ballesta-Martinez Maria Juliana, Shanske Alan L, Tinschert Sigrid, Gehle Petra, Thauvin-Robinet Christel, Eicher Jean-Christophe, Falcon-Eicher Sylvie, Boileau Catherine, Binquet Christine, Hanna Nadine, Faivre Laurence
Аннотация
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.