Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

This study sheds new light on the long-term heart issues linked to Shprintzen-Goldberg syndrome (SGS), a rare connective tissue disorder in the same family as Marfan syndrome. Unlike previous literature with limited data, this analysis of 29 international patients reveals that nearly half develop mitral regurgitation, and over a third experience thoracic aortic aneurysms. Importantly, no cases of aortic dissection were observed, and preventive treatments like beta blockers were rarely used. The study emphasizes the need for systematic cardiovascular monitoring in SGS, similar to Marfan syndrome, especially given the genetic link between certain variants and aortic risks—an underexplored area in prior research. (By Dr Yordi-Michaël BOUHATOUS and Pr Laurence FAIVRE, https://jmg.bmj.com/content/early/2025/06/25/jmg-2024-110341 )

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