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

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.

Keywords: Aneurysm; Arrhythmias, Cardiac; Genetic Diseases, Inborn; Vascular Diseases.

Figure 1. Kaplan-Meier curves for survival analysis of main cardiovascular events. AR, aortic regurgitation; MR, mitral regurgitation; TAA, thoracic aortic aneurysm.A: Kaplan Meier curves for cumulative probability of MR over time. The cumulative probability of developing MR at 30 years was 47% (95% CI: 28-70%). The median follow-up was 20 years. B: Kaplan Meier curves for cumulative probability of AR over time. The cumulative probability of developing AR at 30 years was 22% (95% CI: 8-50%). The median follow-up was 23 years. C: Kaplan Meier curves for cumulative probability of TAA over time. The cumulative probability of developing a TAA at the age of 30 years to be 33% (95% CI: 16-59%). The median follow-up was 21 years.