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Background Marfan syndrome (MFS) is associated with progressive aortic and valvular disease requiring cardiac surgery, but contemporary data on repeat cardiac operations in adults remain limited. Methods We performed a retrospective multicentre cohort study of 783 adults with MFS evaluated across three Mayo Clinic sites. Cardiac operations, postoperative complications, echocardiographic findings and redo sternotomy events were identified by chart review. Multivariate logistic regression was used to evaluate factors associated with redo sternotomy. Results Overall, 454 patients (58.0%) underwent at least one cardiac operation, and 185 patients (23.6% of the total cohort; 41.0% of operated patients) required redo sternotomy. The most common procedures were aortic root intervention (53.4%), aortic valve intervention (39.6%), mitral valve intervention (16.1%) and tricuspid valve intervention (2.6%). Valvular abnormalities were frequent, including mitral regurgitation (51.5%), mitral valve prolapse (41.1%), tricuspid regurgitation (44.6%) and aortic regurgitation (28.5%). Major postoperative complications occurred in 15.3% of patients. On multivariate analysis, hypertension (OR 2.39, 95% CI 1.54 to 3.72), emergent initial operation (OR 3.38, 95% CI 1.97 to 5.80) and postoperative complications (OR 2.59, 95% CI 1.58 to 4.27) were independently associated with redo sternotomy, whereas repair extending beyond the aortic root was associated with lower odds (OR 0.39, 95% CI 0.29 to 0.53). Conclusion In this large multicentre cohort of adults with MFS, cardiac surgery was common, and redo sternotomy occurred frequently among operated patients. These findings provide a contemporary description of the long-term need for cardiac surgery in adults with MFS managed at tertiary referral centres.

Background The prevalence and clinical correlates of extra-aortic vascular disease in Marfan syndrome remain incompletely defined, and current surveillance strategies primarily target the thoracic aorta. Methods We conducted a multicentre retrospective cohort study of 783 patients with Marfan syndrome across three tertiary centres, with systematic chart and imaging adjudication to define aneurysm and dissection distribution. Results Extra-aortic aneurysms were identified in 32% of patients, most commonly involving the iliac, carotid and subclavian arteries. Extra-aortic dissections occurred in 5.2%. Extra-aortic aneurysms clustered strongly with markers of advanced aortic disease, including abdominal aortic aneurysm (adjusted OR 3.48), prior aortic dissection (OR 3.39) and extra-aortic dissection (OR 4.44), as well as age >40 years and male sex. Genetic confirmation status was not associated with extra-aortic aneurysm presence. Conclusions Extra-aortic vascular involvement is common in Marfan syndrome and closely linked to advanced aortic pathology. These findings support risk-stratified vascular imaging beyond the thoracic aorta in higher-risk patients.

Background: Loeys–Dietz syndrome (LDS) is an autosomal dominant aortopathy characterized by aggressive aneurysm formation and arterial dissections. Pregnancy-related outcomes and timing of LDS diagnosis remain poorly characterized. Methods: Demographics, genetic, obstetric, and vascular data was collected from genetically or clinically confirmed individuals with LDS seen at the three Mayo Clinic sites from 2018 to 2025. Aneurysm progression, new aneurysm formation, and arterial dissections were recorded across all vascular beds. Vascular events were assessed during pregnancy, within 12 months postpartum, and during breastfeeding. Comparative analyses were performed between women with and without a history of pregnancy, and a single-arm descriptive analysis was conducted among patients who experienced vascular complications during the peripartum period. Continuous variables were compared using the Mann–Whitney U test, while categorical variables were analyzed using chi-square or Fisher exact tests. Results: Of 47 women with LDS, 24 had a history of pregnancy, accounting for 54 pregnancies. In the comparative analysis, age at LDS diagnosis differed significantly between women with and without a prior pregnancy: women without prior pregnancy were diagnosed at a younger age (median 23.5 years [IQR 10.8–41.0], n = 23) than those who had been pregnant (median 53.5 years [IQR 43.0–59.3], n = 24). Among pregnant women, the median age at first pregnancy was 28 years (IQR 23–34); only 4 (16.7%) knew their diagnosis before pregnancy. Of 54 pregnancies, 40 (74.1%) resulted in live birth, with 23 (57.5%) vaginal and 17 (42.5%) cesarean deliveries; preterm delivery occurred in 1 (2.5%) pregnancy, and postpartum hemorrhage in 2 (5.0%). No maternal deaths, aortic dissections, or uterine ruptures occurred during gestation or the first postpartum year. In addition, 14 women (58.3%) developed aneurysms, 6 (25.0%) experienced at least one arterial dissection, and 7 (29.2%) required surgical repair, predominantly involving the ascending and abdominal aorta. The prevalence of vascular complications did not differ significantly between groups. Conclusions: In this LDS cohort, pregnancy and the early postpartum period were not accompanied by acute aortic catastrophes, despite frequent diagnostic delay. Although women without prior pregnancy were diagnosed at a younger age, the overall burden of vascular and morphologic complications did not differ significantly by pregnancy history. These findings highlight the importance of long-term cardiovascular follow-up in women with LDS.

Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder caused by pathogenic variants in the COL3A1 gene, often leading to arterial, intestinal, and uterine rupture. While vascular complications are well-documented, the prevalence and characteristics of cardiac arrhythmias in this population remain underexplored. Aim: To assess the prevalence of arrhythmias and conduction abnormalities in patients with confirmed vEDS. Methods: A retrospective cohort study was conducted across all three Mayo Clinic sites. Patients with vEDS were initially identified using an electronic data extraction tool. Each case was subsequently confirmed through detailed chart review. Additional reviews were performed to assess the prevalence of heart blocks and both atrial and ventricular arrhythmias. Statistical analysis was conducted using SPSS to determine the prevalence of each arrhythmia type. Results: A total of 132 patients with confirmed vEDS were included in the study. The mean age was 45.7 ± 13 years. The cohort was predominantly white (93.7%), with 47 males (35.6%) and 85 females (64.4%). Atrial arrhythmias were identified in 15 patients (11.4%), including atrial fibrillation in 14 (10.6%) and atrial flutter in 8 (6.1%). Supraventricular tachycardia (SVT) was observed in 15 patients (11.4%). Conduction abnormalities included first-degree AV block in 8 (6.1%), second-degree AV block in 3 (2.3%), left bundle branch block in 8 (6.1%), and right bundle branch block in 15 (11.4%) patients. Ventricular arrhythmias were observed in 6 patients (4.5%) with sustained ventricular tachycardia, 6 (4.5%) with non-sustained ventricular tachycardia, and 7 (5.3%) with ventricular fibrillation. Postural orthostatic tachycardia syndrome (POTS) or orthostatic hypotension was documented in 18 patients (13.6%). Conclusion: Although arrhythmias are not the most common manifestation of vEDS, their prevalence in this cohort is notably higher than in the general population and tends to occur at a younger age. These findings support the consideration of routine screening for atrial and ventricular arrhythmias in patients with vEDS as part of their long-term cardiovascular management.

Bicuspid aortic valve (BAV) and thoracic aortic aneurysms and dissections (TAAD) are recognized in syndromic connective tissue diseases (CTD), but most cases occur sporadically. The extent to which non-syndromic BAV or TAAD predisposes to additional arteriopathies, particularly in younger individuals, remains unclear. We retrospectively analyzed 1438 patients (mean age = 48.0, 67.7% female), excluding those with CTDs. Participants were ≤60 years old and categorized by the presence of BAV and/or TAAD. We examined co-existing arterial pathologies, including fibromuscular dysplasia, spontaneous coronary artery dissection, abdominal aortic aneurysms (AAA), mesenteric, peripheral extremity, and carotid/cerebral arteriopathies. Overall, 44.6% had either BAV or TAAD, and 27.2% had multiple arteriopathies. While vascular diseases were frequently noted, odds ratios demonstrated no significantly increased risk of extra-aortic arteriopathies in the BAV or TAAD cohorts. AAA exhibited a non-significant trend toward higher prevalence in TAAD patients. These findings support current guidelines recommending targeted imaging (transthoracic echocardiography of the aortic root and ascending aorta) over comprehensive “head-to-pelvis” screening for non-syndromic BAV or TAAD patients without additional risk factors. Ongoing genetic analyses may elucidate whether particular variants predispose to multi-site aneurysms or dissections. Consequently, targeted surveillance remains appropriate, with broader imaging reserved for patients with genetic or clinical indicators of higher risk.

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.

Systemic vasculitides are a rare and complex group of diseases that can affect multiple organ systems. Clinically, presentation may be vague and non-specific and as such, diagnosis and subsequent management are challenging. These entities are typically classified by the size of vessel involved, including large-vessel vasculitis (giant cell arteritis, Takayasu’s arteritis, and clinically isolated aortitis), medium-vessel vasculitis (including polyarteritis nodosa and Kawasaki disease), and small-vessel vasculitis (granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis). There are also other systemic vasculitides that do not fit in to these categories, such as Behcet’s disease, Cogan syndrome, and IgG4-related disease. Advances in medical imaging modalities have revolutionized the approach to diagnosis of these diseases. Specifically, color Doppler ultrasound, computed tomography and angiography, magnetic resonance imaging, positron emission tomography, or invasive catheterization as indicated have become fundamental in the work up of any patient with suspected systemic or localized vasculitis. This review presents the key diagnostic imaging modalities and their clinical utility in the evaluation of systemic vasculitis.

Introduction: Post-transcatheter aortic valve replacement (TAVR) outcome of patients is an important research topic. To accurately assess post-TAVR mortality, we examined a family of new echo-parameters (augmented systolic blood pressure (AugSBP) and arterial mean pressure parameters (AugMAP)) derived from blood pressure and aortic valve gradient ( Figure 1 ). Methods: Patients in the Mayo Clinic National Cardiovascular Diseases Registry-TAVR database who underwent TAVR between January 1, 2012, and June 30, 2017, were identified to retrieve baseline clinical, echocardiographic, and mortality data. The median of AugSBP and AugMAP were used to stratify patients in Kaplan-Meier analysis. Results: The final cohort contained 974 patients with a mean age of 81.4±8.3 years old, and 56.6% were male. The mean Society of Thoracic Surgeons risk score was 8.2±5.2. The median follow-up duration was 354 days, and the one-year all-cause mortality rate was 14.2%. Detailed characteristics are summarized in Table 1. AugMAP1 < 102.5 mmHg (median) was associated with a 3-fold risk of all-cause mortality post-TAVR at 1 year (hazard ratio 3.0, 95%confidence interval 2.0-4.5, p<0.0001)( Figure 1 ). Conclusions: Augmented mean arterial pressure provides clinicians with a simple but effective approach to quickly identify patients at risk and potentially improve post-TAVR prognosis.

Background: Post-transcatheter aortic valve replacement (TAVR) patient outcome is an important research topic. To accurately assess post-TAVR mortality, we examined a family of new echo parameters (augmented systolic blood pressure (AugSBP) and arterial mean pressure (AugMAP)) derived from blood pressure and aortic valve gradients. Methods: Patients in the Mayo Clinic National Cardiovascular Diseases Registry-TAVR database who underwent TAVR between 1 January 2012 and 30 June 2017 were identified to retrieve baseline clinical, echocardiographic and mortality data. AugSBP, AugMAP and valvulo-arterial impedance (Zva) (Zva) were evaluated using Cox regression. Receiver operating characteristic curve analysis and the c-index were used to assess the model performance against the Society of Thoracic Surgeons (STS) risk score. Results: The final cohort contained 974 patients with a mean age of 81.4 ± 8.3 years old, and 56.6% were male. The mean STS risk score was 8.2 ± 5.2. The median follow-up duration was 354 days, and the one-year all-cause mortality rate was 14.2%. Both univariate and multivariate Cox regression showed that AugSBP and AugMAP parameters were independent predictors for intermediate-term post-TAVR mortality (all p < 0.0001). AugMAP1 < 102.5 mmHg was associated with a 3-fold-increased risk of all-cause mortality 1-year post-TAVR (hazard ratio 3.0, 95%confidence interval 2.0–4.5, p < 0.0001). A univariate model of AugMAP1 surpassed the STS score model in predicting intermediate-term post-TAVR mortality (area under the curve: 0.700 vs. 0.587, p = 0.005; c-index: 0.681 vs. 0.585, p = 0.001). Conclusions: Augmented mean arterial pressure provides clinicians with a simple but effective approach to quickly identify patients at risk and potentially improve post-TAVR prognosis.