biostudies-literatureBouhatous YMFEDERDijon University Hospital600-606https://www.ebi.ac.uk/biostudies/studies/S-EPMC12418575biostudies-literatureUnknown62(9)<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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 dissJournal of medical geneticsShprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.PMC12418575Not applicablePlessis GVaksmann GMuller MRouleau FArsac LATinschert SBasquin AAdes LFaivre LThomas EGouya LBredy CBoileau CMenke LAEicher JCCoubes CDelanne JLoeys BBonneau DDulac YBallesta-Martinez MJHanna NCallewaert BFalcon-Eicher SMaragnes PBarthelet MDelobel BGinglinger ELabombarda FThauvin-Robinet CAlessandri JLVaerle MShanske ALBouhatous YMGehle PArnaud PDupuis-Girod SGroenink MOdent SJulia SChesneau BJondeau GVincent ABinquet CfalseShprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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 diss2025-01-01T00:00:00Z2025 Aug2026-05-26T20:01:20.696Z2026-05-24T03:07:54.501ZS-EPMC124185754056253010.1136/jmg-2024-110341