マルファン症候群／ロイス・ディーツ症候群

Objective: To analyze the clinical characteristics of pregnant women with different risk factors of Stanford type A aortic dissection (TAAD), so as to provide evidence for early warning and stratified management. Methods: A total of 42 pregnant or puerperal women with pregnancy-associated TAAD admitted to Beijing Anzhen Hospital, Capital Medical University from January 2010 to May 2026 were retrospectively enrolled. They were divided into three groups according to risk factors: Marfan syndrome (MF) group, hypertension (HBP) group, and non-identified high-risk factor (N) group before TAAD onset. The onset characteristics, aortic diameter and maternal-fetal outcomes were compared among the three groups. Results: All 42 patients with TAAD underwent aortic surgery, and 4 cases (10%, 4/42) died. The neonatal survival rate was 100% (26/26) in pregnant women with onset in the third trimester of pregnancy, while the fetal loss rate reached 6/9 in those with onset in the second trimester. Typical clinical symptoms, such as sudden severe tearing or knife-like chest and back pain, with or without radiating pain were observed in 74% (31/42) of patients. There were 10 cases (24%) in the MF group, 12 cases (28%) in the HBP group, and 20 cases (48%) in the N group. The median aortic root diameter was 38.5 mm (31.0, 48.3 mm) in the HBP group, which was significantly smaller than 51.5 mm (43.5, 63.5 mm) in the MF group and 50.5 mm (44.5, 67.0 mm) in the N group (all P<0.05). No statistically significant difference was detected between the MF group and the N group (P>0.05). In the HBP group, 6/12 of pregnant women had an aortic root diameter less than 40 mm, whereas all patients in the MF group and N group had an aortic root diameter of 40 mm or above. The mortality rates of TAAD in MF group, HBP group and N group were 1/12, 0/10 and 15% (3/20), respectively, and the live birth rates were 10/12, 10/11 and 71% (15/21), respectively, without statistically significant differences among groups (all P>0.05). Conclusions: Pregnancy-related TAAD is fundamentally based on underlying aortic structural abnormalities. Hypertension could lower the critical aortic diameter for dissection. Occult aortic lesions are common in TAAD patients without risk factors. It is suggested that aortic ultrasound screening should be advanced to pre-pregnancy or early pregnancy, and more active monitoring and intervention strategies should be taken for hypertensive patients with aortic lesions.

OBJECTIVE: This study aims to evaluate the short- and long-term outcomes of open thoracoabdominal aortic repair in patients with connective tissue disease. METHODS: Retrospective single-institutional review of patients with clinically or genetically diagnosed connective tissue disease who underwent extent I-V open thoracoabdominal aortic repair between 2013 and 2025. The primary outcomes were 30-day and 1-year mortality. Secondary outcomes included neurologic, renal, cardiac, and pulmonary complications, visceral ischemia, long-term branch-graft patency, graft-related complications, and survival. RESULTS: 146 patients underwent open thoracoabdominal aortic repair during the study period, 56 had connective tissue disease and were included in the analysis. Average age was 42 ±12 years, and 68% (n=38) were male. Most of the patients were diagnosed with Marfan (68%, n=38), followed by Loeys-Dietz syndrome (14%, n=8). 91% of repairs were done electively for post-dissection aneurysms (n=51) requiring extent II thoracoabdominal aortic repair (68%, n=38). Visceral and/or renal artery reconstructions were performed in nearly all patients (96%, n=54). Most patients had prior aortic surgery performed (89%, n=50). The 30-day mortality was 2% (n=1), with one patient dying intraoperatively secondary to failure to wean from cardiopulmonary bypass. The 1-year mortality was 5% (n=3). Prolonged ventilator support >48 hours occurred in four patients (7%), with two (4%) requiring tracheostomy placement. Visceral ischemia occurred in four patients (7%). One patient (2%) had spinal cord ischemia with transient paraparesis, and two (4%) had renal failure requiring dialysis at discharge. At a mean imaging follow-up time of 59±48 months, the primary patency of the celiac, superior mesenteric, left renal and right renal arteries were 98%, 100%, 100%, and 94%, respectively. Graft-related complications were mainly secondary to intercostal patch aneurysms, which occurred in eight patients (15%), five of whom necessitated endovascular repair. At a mean follow-up of 68 ±47 months, the survival of operated cohort was 89%. CONCLUSIONS: Open thoracoabdominal aortic repair in connective tissue disease patients can be performed safely with good short- and long-term outcomes, and durable visceral and renal branch-graft patency. However, ongoing surveillance is critical in detecting graft related complications, especially intercostal patch aneurysms, which may require intervention.

BACKGROUND: Marfan syndrome (MFS) is a heritable connective tissue disorder in which cardiovascular complications drive morbidity. Contemporary sex-based differences in vascular and rhythm manifestations remain incompletely defined. OBJECTIVES: The purpose of this study was to compare aneurysm burden, dissection prevalence, arrhythmias, valvular phenotypes, and cardiovascular interventions between men and women with confirmed MFS. METHODS: We performed a retrospective cohort study of adults with confirmed MFS evaluated from 2018 to 2024 at Mayo Clinic. Diagnoses and vascular outcomes were confirmed by manual chart and imaging report review. Outcomes reflected ever-documented history during the study period. Multivariable logistic regression estimated sex-based associations adjusted for age, hypertension, diabetes mellitus, chronic kidney disease, and heart failure. Sensitivity analyses were performed in the genetically positive subgroup. RESULTS: Among 783 patients (443 men, 340 women), men more often had ascending aortic aneurysm (89.1% vs 71.1%), any aneurysm (91.0% vs 75.3%), and any extra-aortic aneurysm (36.8% vs 25.9%) (all P ≤ 0.001). Dissection prevalence was similar by sex. Men also had more atrial fibrillation (44.0% vs 30.9%), atrial flutter (18.3% vs 12.1%), sustained ventricular tachycardia (9.7% vs 5.0%), and aortic root surgery (63.4% vs 40.3%) (all P < 0.05), whereas women more often had mitral valve prolapse (45.6% vs 37.7%; P = 0.028). After adjustment, male sex remained associated with aneurysmal burden, atrial fibrillation, sustained ventricular tachycardia, and aortic root surgery. CONCLUSIONS: In this multicenter Marfan cohort, men had a greater burden of aneurysmal disease, atrial arrhythmias, sustained ventricular tachycardia, and aortic intervention, whereas dissection prevalence was similar between sexes.

PURPOSE: To report the outcomes and complications of Yamane intrascleral IOL fixation surgery in a cohort of pediatric patients with inadequate capsular support. METHODS: The medical records of patients who underwent IOL implantation using the Yamane technique, with a minimum follow-up of 1 year, were reviewed retrospectively. Demographic data, patient age at time of surgery, accompanying pathologies, detailed ophthalmological examination findings, and complications were analyzed. RESULTS: A total of 11 eyes of 7 patients (5 females) were included. Mean age at time of surgery was 6.5 ± 3.2 years, with mean follow-up of 1.81 ± 0.94 years. The Yamane technique was performed in 5 cases for Marfan syndrome-related lens subluxation, in 1 patient for traumatic cataract, and in 1 because of surgical aphakia. The preoperative median best-corrected visual acuity was 0.70 logMAR (IQR, 0.30-1.00) in 4 patients, while fix-and-follow was the only measurable parameter in 3 patients before surgery. Postoperatively, median visual acuity improved to 0.40 logMAR (IQR, 0.22-0.52; P = 0.04), and the IOL was observed to be centrally positioned in all eyes over long-term follow-up. Early postoperative inflammatory membranes occurred in 2 patients and resolved; no further complications were observed during follow-up. CONCLUSIONS: In our small cohort of pediatric cases with inadequate capsular support, the Yamane technique resulted in good long-term outcomes, with few complications.

PURPOSE: Thoracic aortic disease (TAD), including type A acute aortic dissection and Marfan Syndrome, requires lifelong management. Exercise may offer benefits, but the impact of exercise on quality of life (QoL), cardiovascular outcomes, and safety remains unclear. This scoping review synthesizes evidence on exercise effects in patients with TAD. REVIEW METHODS: A comprehensive search was conducted in PubMed, Embase, and CINAHL for studies published up to June 30, 2025. Eligibility criteria included original studies evaluating exercise interventions in patients with TAD or related genetic conditions. Studies reporting outcomes on QoL and cardiovascular status or safety were included. Two reviewers independently screened titles and abstracts, followed by a full-text review; discrepancies were resolved by a third. Data extraction covered population, intervention, and outcomes related to QoL, cardiovascular health, and adverse events. SUMMARY: Nine studies were included, comprising randomized controlled trials, cohort studies, and observational designs. Exercise interventions varied from moderate-intensity aerobic training, resistance training, and personalized rehabilitation programs. Most studies reported improved physical function and capacity, particularly in post-surgical patients with type A acute aortic dissection. Mental health outcomes showed mixed results; some studies reported significant reductions in anxiety and depression, while others found no significant changes in the mental component of QoL. No serious adverse events occurred, although systolic blood pressure responses varied greatly. Despite limited evidence, exercise may enhance physical performance in patients with TAD, although the impact on mental health remains uncertain. Future research should focus on optimizing intervention protocols, incorporating psychosocial support, and establishing evidence-based safety thresholds for exercise-induced blood pressure changes.