Citations

Introduction/Background: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant aortic aneurysm syndrome characterized by arterial tortuosity resulting in arterial aneurysms and dissections, with unique craniofacial and skeletal features including bifid uvula, cleft palate and hypertelorism. While the presence of atrial fibrillation (Afib) and arrhythmias have been reported in LDS patients, limited investigation has been completed regarding the associated risk and severity of vascular complications in relationship to these arrhythmias1,2. Research Questions/Hypothesis: Are there any differences in vascular outcomes in patients with LDS when experiencing various forms of tachyarrhythmia? Goals/Aims: To evaluate the relationship between various types of arrhythmias and vascular outcomes in patients with LDS, including arterial dissection, stroke, revascularization, and death. Methods/Approach: A large sample of LDS patients (n=436) from a single tertiary referral center was assessed for ICD-10 diagnoses of arrhythmia and outcomes of interest. Arrhythmias assessed included Afib, atrial flutter (AFL), premature ventricular contractions (PVCs), and supraventricular tachycardia (SVT). Outcomes were arterial dissection, hemorrhagic and ischemic stroke, revascularization, and all-cause mortality. Results/Data: Our cohort (n=436) had an average age of 47 and was 57.8% female. A total of 26 patients had a documented history of tachyarrhythmia: 16 (3.4%) Afib, 2 (0.5%) AFL, 6 (1.4%) SVT, and 2 (0.5%) PVC. LDS patients with Afib were at significantly higher risk of arterial dissection (25% vs 6.0%, OR: 5.3, p<0.01), revascularization (18.8% vs 3.3%, OR: 8.1, p<0.01), stroke (25% vs 3.6%, OR: 9.0, p<0.001), and death (25% vs 4.3%, OR: 7.4, p<0.01) compared to those without a documented history of arrhythmia. Other arrhythmia types evaluated were not significant. Predictors of any arrhythmia type included hypertension (78% vs 31%, OR: 1.5, p<0.001) and heart failure (39% vs 5.0%, OR: 2.3, p<0.001). Conclusion: Although rare, Afib in LDS patients is associated with adverse vascular outcomes and mortality compared to those without a history of arrhythmia. Furthermore, the magnitude of increased risk is striking. Early identification and management of Afib in LDS patients may be critical in mitigating the risk of potential vascular complications.

Introduction/Background: Fibromuscular Dysplasia (FMD) is a non-atherosclerotic vascular disease that primarily affects medium-sized arteries and is characterized by abnormal cell development in the artery walls. Recent studies have suggested that various connective tissue features may be prevalent in patients with FMD, however the clinical significance of these findings on the disease course are uncertain. Research Questions/Hypothesis: We hypothesized that the presence of connective tissue features in patients with FMD might indicate a more severe disease course, potentially associated with increased severity of vascular complications. Goals/Aims: To evaluate the association between connective tissue features and the severity of vascular complications in FMD patients on outcomes including dissections and stroke. Methods/Approach: This cross-sectional study involved 2,454 patients diagnosed with FMD at a tertiary referral center. Patients were classified into two groups based on the presence (n=324) or absence (n=2130) of connective tissue features (pectus deformity of any kind, scoliosis, pneumothorax, inguinal hernia, uterine rupture, bowel perforation, Achilles tendon rupture). We evaluated the incidence of dissections and ischemic or hemorrhagic strokes using odds ratios and chi-squared tests. Results/Data: The cohort consisted of 2,454 participants with an average age of 64.8 years, of whom 89.1% were female and 92.4% identified as White. When comparing groups with and without connective tissue features, there were no significant differences in the prevalence of aneurysms at any site. Among the subgroup of FMD patients with connective tissue features (n=234), prevalent conditions included pectus (12.35%), scoliosis (47.22%), pneumothorax (16.67%), inguinal hernia (13.58%), uterine rupture (16.36%), bowel perforation (6.48%), and Achilles tendon rupture (1.85%). Vascular outcome analysis showed significant differences: the odds of experiencing a stroke were higher in patients with these features (odds ratio: 1.60; P-value: <0.01), whereas the odds of experiencing dissections were lower (odds ratio: 0.77; P-value: 0.03). Conclusion: The presence of connective tissue features in patients with FMD is associated with 60% higher odds of experiencing a stroke, equivalent to a 1.6-fold increase, compared to those without these features. This association may represent a novel finding in the literature, warranting further investigation.