Sex-based differences in patients with Loeys-Dietz syndrome: An analysis of arteriopathies and surgical interventions

Abstract

Background: Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder caused by variants in genes like TGFBR1, TGFBR2, TGFB2, TGFB3, and SMAD3, leading to vascular abnormalities such as aneurysms and dissections. This study examines sex-based differences in the clinical presentation of LDS, focusing on comorbidities, physical exam findings, vascular events, and surgeries.

Methods: A retrospective analysis was conducted on 94 LDS patients (47 males and 47 females) at Mayo Clinic locations in Arizona, Rochester, and Florida. Data were collected from chart reviews, including comorbidities, physical exam findings, vascular events, and surgeries. Statistical analysis included Chi-square tests to compare the two groups.

Results: Among the cohort, females had higher rates of obesity (23.4 % vs. 8.5 %, p = 0.049) and migraines (44.7 % vs. 21.3 %, p = 0.027). Females also had more easy bruising (31.9 % vs. 8.5 %, p = 0.005), while dolichocephaly was more common in males (21.3 % vs. 6.4 %, p = 0.036). Males had more aneurysms and dissections, including ascending aortic (89.4 % vs. 72.3 %, p = 0.036) and abdominal aortic aneurysms (34 % vs. 10.6 %, p = 0.006), and aneurysms in other locations (63 % vs. 42.6 %, p = 0.048). Type A and B aortic dissections were also more common in males (21.3 % vs. 6.4 %, p = 0.036). Males had more aortic root replacements (74.5 % vs. 53.2 %), while females had more tricuspid valve repairs (19.1 % vs. 2.1 %, p = 0.007).

Conclusion: This study highlights significant gender differences in LDS, particularly in vascular events and surgical interventions. Males are more likely to experience aneurysms and dissections and undergo aortic root replacement. These findings stress the importance of considering sex-based factors in LDS management.

Keywords: Aneurysms; Connective tissue disease features; Dissections; Loeys-Dietz syndrome; Sex-based difference; Surgical interventions.