[Retrograde Stanford Type A Aortic Dissection of Marfan Syndrome Long After Thoracic Endovascular Aortic Repair:Report of a Case].

A 52-year-old woman with Marfan syndrome developed Stanford type B aortic dissection and was treated with thoracic endovascular aortic repair. However, 29 months later, she presented with retrograde Stanford type A aortic dissection. We successfully performed aortic arch replacement with the frozen elephant trunk technique and valve-sparing aortic root replacement. The advantages of the frozen elephant trunk technique are that the distal anastomosis can be created without stent-graft resection and the cardiac arrest time is shortened. Therefore, the frozen elephant trunk technique was considered valuable and safe in this potentially lethal situation.

Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.

BACKGROUND: congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia. CASE PRESENTATION: We describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events. CONCLUSION: Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.

Acute ischemic stroke with a diagnosis of Marfan syndrome: A report of 3 cases in multifaceted settings.

RATIONALE: Marfan syndrome (MFS), which is a dominantly inherited connective tissue disease resulting from a mutation in the FBN1 gene, exhibits variable manifestations affecting the cardiovascular, musculoskeletal, ophthalmologic, and pulmonary systems. Notably, neurologic deficiency, which involves ischemic or hemorrhagic stroke, is a rare but severe manifestation. The safety of rt-PA treatment for ischemic stroke caused by MFS is still under discussion. PATIENT CONCERNS: In the current report, we discuss 3 atypical MFS cases presented as acute ischemic stroke, compared to those exhibiting cardiovascular and musculoskeletal abnormalities. DIAGNOSES: Three patients were diagnosed with acute ischemic stroke accompanied by MFS based on clinical manifestations, imaging examinations, and genetic testings. INTERVENTIONS: The first case underwent intravenous thrombolytic therapy with rt-PA, the second case received antiplatelet therapy, and the third case received anticoagulant therapy and perfusion therapy. OUTCOMES: The neurologic deficiency of all three patients showed improvement upon discharge, and there were no symptoms of recurrence observed during the follow-up period. LESSONS SUBSECTIONS: MFS is a rare etiology in young people with embolic stroke of undetermined source. Physicians should take MFS into consideration when they observe the characteristic symptoms during a consultation. The potential pathogenesis of ischemic stroke secondary to MFS may include cardio-embolism, arterial dissection, and hypoperfusion. Although intravenous thrombolysis is a promising therapy to treat acute ischemic stroke, further examinations should be conducted to rule out contraindications in patients with a suspicion of MFS.

Investigation of Strategies to Block Downstream Effectors of AT1R-Mediated Signalling to Prevent Aneurysm Formation in Marfan Syndrome.

Cardiovascular outcome in Marfan syndrome (MFS) patients most prominently depends on aortic aneurysm progression with subsequent aortic dissection. Angiotensin II receptor blockers (ARBs) prevent aneurysm formation in MFS mouse models. In patients, ARBs only slow down aortic dilation. Downstream signalling from the angiotensin II type 1 receptor (AT1R) is mediated by G proteins and ß-arrestin recruitment. AT1R also interacts with the monocyte chemoattractant protein-1 (MCP-1) receptor, resulting in inflammation. In this study, we explore the targeting of ß-arrestin signalling in MFS mice by administering TRV027. Furthermore, because high doses of the ARB losartan, which has been proven beneficial in MFS, cannot be achieved in humans, we investigate a potential additive effect by combining lower concentrations of losartan (25 mg/kg/day and 5 mg/kg/day) with barbadin, a ß-arrestin blocker, and DMX20, a C-C chemokine receptor type 2 (CCR2) blocker. A high dose of losartan (50 mg/kg/day) slowed down aneurysm progression compared to untreated MFS mice (1.73 ± 0.12 vs. 1.96 ± 0.08 mm, p = 0.0033). TRV027, the combination of barbadin with losartan (25 mg/kg/day), and DMX-200 (90 mg/kg/day) with a low dose of losartan (5 mg/kg/day) did not show a significant beneficial effect. Our results confirm that while losartan effectively halts aneurysm formation in Fbn1C1041G/+ MFS mice, neither TRV027 alone nor any of the other compounds combined with lower doses of losartan demonstrate a notable impact on aneurysm advancement. It appears that complete blockade of AT1R function, achieved by administrating a high dosage of losartan, may be necessary for inhibiting aneurysm progression in MFS.

Temporomandibular disorders in individuals with Marfan syndrome: an exploratory analysis.

BACKGROUND: This study aims to analyze to what extent patients with Marfan syndrome (MFS) are affected by temporomandibular disorders (TMD) and its impact on oral health-related quality of life (OHRQoL). To collect data, an online questionnaire was created to recruit participants from Germany, Austria, and Switzerland through social media and support groups. The questionnaire consists of free-text questions, the German versions of the Oral Health Impact Profile (OHIP-G14), the Depression Anxiety Stress Scale (DASS), and the Graded Chronic Pain Status (GCPS). RESULTS: A total of 76 participants with diagnosed MFS were included. Of these, 65.8% showed TMD symptoms, the most common being pain or stiffness of the masticatory muscles in the jaw angle (50.0%). Only 14.5% of the participants were already diagnosed with TMD. Of the participants with an increased likelihood of a depression disorder, 76.9% showed TMD symptoms. Of those with a critical score for an anxiety disorder, 90.9% showed TMD symptoms. 73.3% of participants with TMD symptoms reached the critical score for a stress disorder. TMD symptoms were associated with a higher risk for chronic pain. In the median, participants with TMD showed statistically notably higher OHIP-G14 scores than participants without TMD (11.5 [IQR 17] vs. 1 [IQR 3] points, p ≤ 0.001). CONCLUSION: TMD symptoms had a noticeable impact on OHRQoL in patients with MFS, i.e., chronic pain and psychological impairment. TMD seems underdiagnosed, and more research is needed to prevent the associated chronification of pain and psychological burden to improve the OHRQoL.

Corneal biomechanics and their association with severity of lens dislocation in Marfan syndrome.

PURPOSE: To investigate corneal biomechanical properties and its associations with the severity of lens dislocation in patients with Marfan syndrome. METHODS: A total of 30 patients with Marfan syndrome and 30 age-, sex- and axial length (AL)-matched controls were recruited. Corneal biomechanical parameters of both groups were measured by CorVis ST and were compared between groups. Potential associations between corneal biomechanical parameters and severity of lens dislocation were also investigated. RESULTS: Lower applanation 1 velocity (A1V) (0.13 ± 0.004 vs. 0.15 ± 0.003, P = 0.016), shorter applanation 2 time (A2T)(22.64 ± 0.11 vs. 22.94 ± 0.11, P = 0.013), longer peak distance (PD) (5.03 ± 0.07 vs. 4.81 ± 0.05, P = 0.008), longer radius (R) of highest concavity (7.44 ± 0.16 vs. 6.93 ± 0.14, P = 0.012), greater Ambrosio relational thickness horizontal (ARTh) (603 ± 20 vs. 498 ± 12, P < 0.001), and integrated radius (IR) (8.32 ± 0.25 vs. 8.95 ± 0.21, P = 0.033) were detected among Marfan eyes compared with controls (all P < 0.05). Marfan individuals with more severe lens dislocation tended to have increased stiffness parameter as longer A1T, slower A1V, shorter A2T, slower application 2 velocity (A2V), smaller PD and smaller Distance Amplitude (DA) (P < 0.05). CONCLUSION: Marfan patients were detected to have increased corneal stiffness compared with normal subjects. Corneal biomechanical parameters were significantly associated with the severity of lens dislocation in Marfan patients.

Marfan syndrome.

ABSTRACT: This article provides a comprehensive review of Marfan Syndrome (MFS), covering its epidemiology, etiology, clinical presentations, diagnostics, complications, and treatment modalities. The Ghent II Nosology of MFS criteria are crucial in MFS diagnosis, guiding clinicians in identifying high-risk patients. Nursing implications underscore the importance of screenings, assessments, and close follow-ups to optimize the continuum of care for individuals with MFS.

[Endovascular treatment for Stanford type B aortic dissection in Marfan syndrome patients: a series of 23 cases].

Objective: To evaluate the clinical outcomes of thoracic endovascular aortic repair (TEVAR) in the treatment of Stanford type B aortic dissection (TBAD) in Marfan syndrome patients who had no history of aortic arch replacement. Methods: This is a retrospective case-series study. From January 2009 to December 2019,the clinical data of Marfan syndrome patients who underwent TEVAR for TBAD at the Department of Vascular Surgery were collected. A total of 23 patients were enrolled,including 15 males and 8 females. The age was (38.0±11.0) years (range:24 to 56 years). Among them,12 patients had history of ascending aortic surgery. Details of TEVAR,perioperative complications and reintervention were recorded and survival rate was analyzed by Kaplan-Meier curve. Results: Technical success was 91.3% (21/23). Two patients with technical failure were as follows:one patient had type Ⅰa endoleak at the completion angiography,which healed spontaneously during the follow-up,and the other patient suffered aortic intimal intussusception after the deployment of the first stent-graft, and the second stent-graft was deployed. However, type Ⅲ endoleak was detected,which disappeared during the follow-up. One patient died during hospitalization. The median follow-up time (M(IQR)) was 60 (48) months (range:12 to 132 months). Reintervention was performed on 7 patients,including 3 distal stent-graft-induced new entry,2 distal aortic dilation,1 Ⅰa endoleak and 1 retrograde type A aortic dissection,respectively. Five-year cumulative survival rate was 86.7% (95%CI:86.6% to 86.8%) and the 5-year freedom from reintervention rate was 81.8% (95%CI:61.8% to 92.8%). Conclusions: TEVAR is feasible in the treatment of TBAD in Marfan syndrome patients who has no history of aortic arch replacement. It has high technical success rate and low perioperative complication.

Cardiovascular and obstetrical outcomes among delivering patients with Marfan or Loeys-Dietz syndrome: a retrospective analysis by hospital delivery setting.

BACKGROUND: Pregnancy is a high-risk time for patients with Marfan syndrome or Loeys-Dietz syndrome because of the risk for cardiovascular complications, including the risk for aortic dissection. Little is known about the differences in obstetrical and cardiac outcomes based on delivery hospital setting (academic or academic-affiliated vs community medical centers). OBJECTIVE: This study aimed to evaluate the obstetrical and cardiac outcomes of patients with Marfan syndrome or Loeys-Dietz syndrome based on delivery hospital setting. STUDY DESIGN: This was a secondary analysis of a retrospective, observational cohort study of singleton pregnancies among patients with a diagnosis of Marfan syndrome or Loeys-Dietz syndrome from 1990 to 2016. Patients were identified through the Marfan Foundation, the Loeys-Dietz Syndrome Foundation, or the Cardiovascular Connective Tissue Clinic at Johns Hopkins Hospital. Data were obtained via self-reported obstetrical history and verified by review of medical records. Nonparametric analyses were performed using Fisher's exact tests and Wilcoxon rank-sum tests. RESULTS: A total of 273 deliveries among patients with Marfan syndrome or Loeys-Dietz syndrome were included in this analysis (Table 1). More patients who had a known diagnosis before delivery of either Marfan syndrome or Loeys-Dietz syndrome delivered at an academic hospital as opposed to a community hospital (78.6% vs 59.9%; P=.001). Patients with Marfan syndrome or Loeys-Dietz syndrome who delivered at academic centers were more likely to have an operative vaginal delivery than those who delivered at community centers (23.7% vs 8.6%; P=.002). When the indications for cesarean delivery were assessed, connective tissue disease was the primary indication for the mode of delivery at community centers when compared with academic centers (55.6% vs 43.5%; P=.02). There were higher rates of cesarean delivery for arrest of labor and/or malpresentation at community hospitals than at academic centers (23.6% vs 5.3%; P=.01). There were no differences between groups in terms of the method of anesthesia used for delivery. Among those with a known diagnosis of Marfan syndrome or Loeys-Dietz syndrome before delivery, there were increased operative vaginal delivery rates at academic hospitals than at community hospitals (27.2% vs 15.1%; P=.03) (Table 2). More patients with an aortic root measuring ≥4 cm before or after pregnancy delivered at academic centers as opposed to community centers (33.0% vs 10.2%; P=.01), but there were no significant differences in the median size of the aortic root during pregnancy or during the postpartum assessment between delivery locations. Cardiovascular complications were rare; 8 patients who delivered at academic centers and 7 patients who delivered at community centers had an aortic dissection either in pregnancy or the postpartum period (P=.79). CONCLUSION: Patients with Marfan syndrome or Loeys-Dietz syndrome and more severe aortic phenotypes were more likely to deliver at academic hospitals. Those who delivered at academic hospitals had higher rates of operative vaginal delivery. Despite lower frequencies of aortic root diameter >4.0 cm, those who delivered at community hospitals had higher rates of cesarean delivery for the indication of Marfan syndrome or Loeys-Dietz syndrome. Optimal delivery management of these patients requires further prospective research.

Physical fitness in children with Marfan and Loeys-Dietz syndrome: associations between cardiovascular parameters, systemic manifestations, fatigue, and pain.

Children with Marfan (MFS) and Loeys-Dietz syndrome (LDS) report limitations in physical activities, sports, school, leisure, and work participation in daily life. This observational, cross-sectional, multicenter study explores associations between physical fitness and cardiovascular parameters, systemic manifestations, fatigue, and pain in children with MFS and LDS. Forty-two participants, aged 6-18 years (mean (SD) 11.5(3.7)), diagnosed with MFS (n = 36) or LDS (n = 6), were enrolled. Physical fitness was evaluated using the Fitkids Treadmill Test's time to exhaustion (TTE) outcome measure. Cardiovascular parameters (e.g., echocardiographic parameters, aortic surgery, cardiovascular medication) and systemic manifestations (systemic score of the revised Ghent criteria) were collected. Pain was obtained by visual analog scale. Fatigue was evaluated by PROMIS® Fatigue-10a-Pediatric-v2.0-short-form and PROMIS® Fatigue-10a-Parent-Proxy-v2.0-short-form. Multivariate linear regression analyses explored associations between physical fitness (dependent variable) and independent variables that emerged from the univariate linear regression analyses (criterion p < .05). The total group (MFS and LDS) and the MFS subgroup scored below norms on physical fitness TTE Z-score (mean (SD) -3.1 (2.9); -3.0 (3.0), respectively). Univariate analyses showed associations between TTE Z-score aortic surgery, fatigue, and pain (criterion p < .05). Multivariate analyses showed an association between physical fitness and pediatric self-reported fatigue that explained 48%; 49%, respectively, of TTE Z-score variance (F (1,18) = 18.6, p ≤ .001, r2 = .48; F (1,15) = 16,3, p = .01, r2 = .49, respectively).    Conclusions: Physical fitness is low in children with MFS or LDS and associated with self-reported fatigue. Our findings emphasize the potential of standardized and tailored exercise programs to improve physical fitness and reduce fatigue, ultimately enhancing the physical activity and sports, school, leisure, and work participation of children with MFS and LDS. What is Known: • Marfan and Loeys-Dietz syndrome are heritable connective tissue disorders and share cardiovascular and systemic manifestations. • Children with Marfan and Loeys-Dietz syndrome report increased levels of disability, fatigue and pain, as well as reduced levels of physical activity, overall health and health-related quality of life. What is New: • Physical fitness is low in children with Marfan and Loeys-Dietz syndrome and associated with self-reported fatigue. • Our findings emphasize the potential of standardized and tailored exercise programs to improve physical fitness and reduce fatigue, ultimately enhancing the physical activity and sports, school, leisure, and work participation of children with Marfan and Loeys-Dietz syndrome.

[Structural and functional features of the eye in Marfan syndrome. Report 2. Changes in the anatomical complex of the lens]. / Strukturno-funktsional'nye osobennosti glaza pri sindrome Marfana. Soobshchenie 2. Izmeneniya anatomicheskogo kompleksa khrustalika.

Analysis of lens changes in Marfan syndrome (MS), in addition to assessing the position of the lens itself, should include the possibility of examining its supporting and accommodative components (ciliary zonule and ciliary body), or what can be called the entire anatomical complex of the lens. Optical methods of studying the structures of the anterior segment of the eye, due to iris opacity, allow only to analyze the state of the lens within the natural or medically enlarged pupil width. Visualization of the structures located behind the iris is possible with the use of radiation diagnostic methods, in particular ultrasound biomicroscopy (UBM). PURPOSE: This study assesses the state of the anatomical complex of the lens in MS using UBM. MATERIAL AND METHODS: The study was carried out on clinical material previously used by us to analyze changes in the fibrous membrane of the eye in MS. At the first stage, the main (19 patients with MS, 38 eyes) and the control (24 patients with myopia, 48 eyes) groups were formed for comparative evaluation. The formed groups were standardized according to the age of the patients and the axial length of the eye. At the second stage, patients with MS were divided into subgroups depending on the absence or presence of biomicroscopic signs of ectopia lentis (22 and 16 eyes, respectively). For UBM, an ultrasound linear sensor with a scanning frequency of 50 MHz was used (Aviso device, Quantel Medical, France). Various biometric UBM indicators were determined: lens thickness, diameter of the lens, lens-axial length factor, iris-lens angle, iris-lens contact distance, posterior chamber depth, length of the fibers of ciliary zonule, thickness of the ciliary body, sclera-ciliary process angle. RESULTS: There are changes in the anatomical complex of the lens as a whole in MS (in the lens itself, the ciliary zonule, and the ciliary body), which are characterized by an increase in lens thickness and a decrease in the diameter of the lens, an increase in the length of the fibers of the ciliary zonule and a decrease in the thickness of the ciliary body. At the same time, the displacement of the lens detected by optical biomicroscopy (ectopia lentis) can be considered as an advanced stage of changes in the anatomical complex of the lens. CONCLUSION: UBM provides the possibility of full-fledged visualization of all components of the anatomical complex of the lens in terms of both diagnostics, and monitoring of changes in MS. The question of the advisability of including this method in the algorithm for diagnosing ocular manifestations in order to verify the MS remains open. Possible obstacles may be, on the one hand, related to the need for special and expensive equipment, and on the other hand, the absence of a generally accepted «normal¼ values of UBM indicators of the anatomical complex of the lens.

[Structural and functional features of the eye in Marfan syndrome. Report 1. Changes in the fibrous tunic of the eye]. / Strukturno-funktsional'nye osobennosti glaza pri sindrome Marfana. Soobshchenie 1. Izmeneniya fibroznoi obolochki.

Marfan syndrome (MS) is an orphan hereditary connective tissue disease associated with a mutation in the FBN1 gene, which pathological manifestations are characterized by polysystemic involvement. The fibrillin-1 protein is an integral component of the sclera and cornea of the eye, and in MS its structure is distrubed. PURPOSE: This study assesses potential structural and functional changes in the cornea and sclera of a patient with MS. MATERIAL AND METHODS: Two groups were formed, comparable in the axial length of the eye and age: the main group - 19 patients (38 eyes) with a verified diagnosis of MS, and the control group - 24 patients (48 eyes) with myopia of varying degrees. The results obtained from MS patients were analyzed depending on the absence or presence of ectopia lentis. In addition to measuring the basic ophthalmological parameters (refraction, axial length, visual acuity), topographic keratometry, anterior segment optical coherence tomography, and ocular response analyzer were used for structural and functional assessment of the cornea and sclera. RESULTS: In MS there was a statistically significant increase in the radius of curvature and a decrease in corneal refraction in the central zone compared to the control group. There were no significant differences in central corneal thickness, but there was a significant decrease in the thickness of the sclera in the limbal zone compared to the control group. There were no statistically significant changes in corneal hysteresis and corneal resistance factor in MS. CONCLUSION: This study confirmed the previously obtained data on the tendency of the optical power to reliably decrease in MS (flattening of the cornea). This symptom can be considered as a compensatory factor affecting clinical refraction, while the decrease in the thickness of the sclera - as the main reason for aaxial length elongation in MS. There were no clear patterns of dependence of the changes in the cornea and sclera analyzed in this study on the presence or absence of ectopia lentis. Changes in the lens, perhaps, should be regarded only as one of the potential components of the ocular symptom complex in MS.

Endovascular aortic repair in patients with Marfan and Loeys-Dietz syndrome is safe and durable when employed by a multi-disciplinary aortic team.

OBJECTIVES: The aim of this study was to report on mid-term outcomes after endovascular aortic repair (EVAR) in patients with Marfan (MFS) or Loeys-Dietz (LDS) syndrome. METHODS: We analysed data from 2 European centres of patients with MFS and LDS undergoing EVAR. Patients were analysed based on (i) timing of the procedure (planned versus emergency procedure) and (ii) the nature of the landing zone (safe versus non-safe). The primary end-point was freedom from reintervention. Secondary end-points were freedom from stroke, bleeding and death. RESULTS: A population of 419 patients with MFS (n = 352) or LDS (n = 67) was analysed for the purpose of this study. Thirty-nine patients (9%) underwent EVAR. Indications for thoracic endovascular aortic repair or EVAR were aortic dissection in 13 (33%) patients, aortic aneurysm in 22 (57%) patients and others (intercostal patch aneurysm, penetrating atherosclerotic ulcer, pseudoaneurysm, kinking of frozen elephant trunk (FET)) in 4 (10%) patients. Thoracic endovascular repair was performed in 34 patients, and abdominal endovascular aortic repair was performed in 5 patients. Mean age at 1st thoracic endovascular aortic repair/EVAR was 48.5 ± 15.4 years. Mean follow-up after 1st thoracic endovascular aortic repair/EVAR was 5.9 ± 4.4 years. There was no statistically significant difference in the rate of reinterventions between patients with non-safe landing zone and the patients with safe proximal landing zone (P = 0.609). Furthermore, there was no increased probability for reintervention after planned endovascular intervention compared to emergency procedures (P = 0.916). Mean time to reintervention, either open surgical or endovascular, after planned endovascular intervention was in median 3.9 years (95% confidence interval 2.0-5.9 years) and 2.0 years (95% confidence interval -1.1 to 5.1 years) (P = 0.23) after emergency procedures. CONCLUSIONS: EVAR in patients with MFS and LDS and a safe landing zone is feasible and safe. Endovascular treatment is a viable option when employed by a multi-disciplinary aortic team even if the landing zone is in native tissue.

In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation.

In individuals with Marfan Syndrome (MFS), fibrillin-1 gene (FBN1) mutations can lead to vascular wall weakening and dysfunction. The experimental mouse model of MFS (Fbn1C1041G/+) has been advantageous in investigating MFS-associated life-threatening aortic aneurysms. It is well established that the MFS mouse model exhibits an accelerated-aging phenotype in elastic organs like the aorta, lung, and skin. However, the impact of Fbn1 mutations on the in vivo function and structure of various artery types with the consideration of sex and age, has not been adequately explored in real-time and a clinically relevant context. In this study, we investigate if Fbn1 mutation contributes to sex-dependent alterations in central and cerebral vascular function similar to phenotypic changes associated with normal aging in healthy control mice. In vivo ultrasound imaging of central and cerebral vasculature was performed in 6-month-old male and female MFS and C57BL/6 mice and sex-matched 12-month-old (middle-aged) healthy control mice. Our findings confirm aortic enlargement (aneurysm) and wall stiffness in MFS mice, but with exacerbation in male diameters. Coronary artery blood flow velocity (BFV) in diastole was not different but left pulmonary artery BFV was decreased in MFS and 12-month-old control mice regardless of sex. At 6 months of age, MFS male mice show decreased posterior cerebral artery BFV as compared to age-matched control males, with no difference observed between female cohorts. Reduced mitral valve early-filling velocities were indicated in MFS mice regardless of sex. Male MFS mice also demonstrated left ventricular hypertrophy. Overall, these results underscore the significance of biological sex in vascular function and structure in MFS mice, while highlighting a trend of pre-mature vascular aging phenotype in MFS mice that is comparable to phenotypes observed in older healthy controls. Furthermore, this research is a vital step in understanding MFS's broader implications and sets the stage for more in-depth future analyses, while providing data-driven preclinical justification for re-evaluating diagnostic approaches and therapeutic efficacy.

Predicting Marfan Syndrome in Children With Congenital Ectopia Lentis: Development and Validation of a Nomogram.

Purpose: To derive an effective nomogram for predicting Marfan syndrome (MFS) in children with congenital ectopia lentis (CEL) using regularly collected data. Methods: Diagnostic standards (Ghent nosology) and genetic test were applied in all patients with CEL to determine the presence or absence of MFS. Three potential MFS predictors were tested and chosen to build a prediction model using logistic regression. The predictive performance of the nomogram was validated internally through time-dependent receiver operating characteristic curves, calibration curves, and decision curve analysis. Results: Eyes from 103 patients under 20 years old and with CEL were enrolled in this study. Z score of body mass index (odds ratio [OR] = 0.659; 95% confidence interval [CI], 0.453-0.958), corneal curvature radius (OR = 3.397; 95% CI, 1.829-6.307), and aortic root diameter (OR = 2.342; 95% CI, 1.403-3.911) were identified as predictors of MFS. The combination of the above predictors shows good predictive ability, as indicated by area under the curve of 0.889 (95% CI, 0.826-0.953). The calibration curves showed good agreement between the prediction of the nomogram and the actual observations. In addition, decision curve analysis showed that the nomogram was clinically useful and had better discriminatory power in identifying patients with MFS. For better individual prediction, an online MFS calculator was created. Conclusions: The nomogram provides accurate and individualized prediction of MFS in children with CEL who cannot be identified with the Ghent criteria, enabling clinicians to personalize treatment plans and improve MFS outcomes. Translational Relevance: The prediction model may help clinicians identify MFS in its early stages, which could reduce the likelihood of developing severe symptoms and improve MFS outcomes.

Neurotrophic Keratopathy in Marfan Syndrome Patient After Micropulse Transscleral Cyclophotocoagulation: A Call for Risk Stratification.

BACKGROUND Micropulse transscleral cyclophotocoagulation is a non-invasive, widely employed procedure that uses diode laser to target the ciliary body to lower the intraocular pressure. Despite its acknowledged efficacy, certain complications are recognized, with neurotrophic keratopathy being a rare yet serious consequence. This report seeks to shed light on a potential high-risk subgroup susceptible to neurotrophic keratopathy, exemplified by our patient with Marfan syndrome, a condition characterized by thin sclera. CASE REPORT Our patient, who was confirmed to have Marfan syndrome with pseudophakic glaucoma, underwent micropulse transscleral cyclophotocoagulation due to high intraocular pressure bilaterally and subsequently quickly manifested neurotrophic keratopathy in both eyes postoperatively. Swift initiation of management involved a comprehensive approach, including topical antibiotics, preservative-free lubrication, medroxyprogesterone acetate 1%, serum balanced salt solution (BSS) 50%, and the application of bandage contact lenses to expedite healing. Fortunately, the left eye demonstrated resolution within 10 days, while the right eye exhibited delayed healing, leading to subsequent scarring. CONCLUSIONS This report highlights the critical importance of recognizing populations predisposed to neurotrophic keratopathy before subjecting them to micropulse transscleral cyclophotocoagulation. Such awareness allows for the fine-tuning of procedural parameters, offering a strategic approach to mitigate the risk of neurotrophic keratopathy development. By further exploring and recognizing potential risk factors, clinicians can enhance patient outcomes and refine the safety profile of micropulse transscleral cyclophotocoagulation.

Quality of life in young patients with acute type a aortic dissection in China: comparison with Marfan syndrome and non-Marfan syndrome.

BACKGROUND: There is a paucity of Chinese studies evaluating the quality of life (QoL) in young acute type A aortic dissection (AAAD) patients with Marfan syndrome. METHODS: Young adult AAAD patients (younger than 45 years old) underwent surgical treatment at our institution from January 2017 to December 2020 were consecutive enrolled. The hospital survivors completed 1 year of follow up. Patients were divided into two groups according to the presence or absence of Marfan syndrome (MFS). A 1:1 propensity score matching (PSM) with a caliper 0.2 was conducted to balance potential bias in baseline. The follow-up data were analyzed primarily for change in quality of life and anxiety status. RESULTS: After PSM, 32 comparable pairs were matched. The baseline data were comparable and postoperative complications were similar between groups. In terms of SF-36 scale, the role physical, bodily pain, role emotional and mental health subscales were no significantly improved in MFS patients over time. At 1 year after discharged, the subscale of mental health and bodily pain were significantly lower in the MFS group than in the non-MFS group. In terms of HADS assessments, the level of anxiety in MFS patients was significantly higher than in non-MFS patients at 1 year after discharged. CONCLUSIONS: The QoL in young AAAD patients with MFS is lower than those without MFS after surgery. This may be associated with the uncontrollable persistent chronic pain and the uncertainty and concerns for the disease's progression.

Type A Aortic Dissection in Heart Transplantation Recipients in the United States.

BACKGROUND: Type A aortic dissection in heart transplantation recipients is rare and lethal, with limited research beyond case reports. This study aimed to analyze patient characteristics and clinical outcomes of this condition through a US national database. METHODS: The National Inpatient Sample database (2002-2018) was used to identify all type A aortic dissection in heart transplantation recipients aged >18 years. Incidence was quantified annually. Primary outcomes were in-hospital mortality; secondary outcomes were hospital length of stay and complications. RESULTS: We identified 78 cases of type A aortic dissection in heart transplantation recipients. Compared with type A aortic dissection patients without a history of solid organ transplantation (N = 70,715), our patients were younger (55.3 vs 60.7 years), less likely female (18.5% vs 33.5%), and more frequently Black or Hispanic (55% vs 23%). They had a greater prevalence of Marfan syndrome (13% vs 3%), congestive heart failure (46% vs 19%), and chronic kidney disease (19% vs 10%), as well as increased in-hospital mortality (30% vs 18%) and a longer hospital length of stay (29.5 vs 13.7 days). They experienced elevated rates of cardiac (57% vs 31%), respiratory (70. % vs 41%), renal (76% vs 30%), and bleeding complications (37% vs 14%). CONCLUSIONS: Type A aortic dissection in heart transplantation recipients appears to exhibit distinct characteristics and poorer outcomes compared with those in the general population. Heart transplantation recipients with predisposing risk factors warrant heightened attention to help prevent this devastating condition.

Biometric and corneal characteristics in marfan syndrome with ectopia lentis.

PURPOSE: To describe the biometric and corneal characteristics of patients with Marfan Syndrome (MFS) and ectopia lentis. STUDY DESIGN: Observational, descriptive, prospective study. Subjects Individuals with MFS with ectopia lentis (EL). METHODS: Fourty-four eyes of 23 patients underwent Scheimpflug analysis using the Pentacam (Oculus, Wetzlar, Germany), axial length (AL) using the IOL master 700 (Carl Zeiss AG, Oberkochen, Germany), endothelial cell count (ECC) using the CEM-350 (NIDEK, Maihama, Japan) and corneal biomechanics evaluation with the Ocular Response Analyzer: ORA (Reichert Ophthalmic Instruments, Buffalo, New York, USA) and Corvis (Oculus, Wetzlar, Germany). Statistical analysis was performed using IBM SPSS Statistics 25.0. RESULTS: The direction of lens subluxation was most frequently supero-nasal 40.9% (18/44). Mean keratometry (Km) was 40.22±1.76 Diopters (D); mean corneal astigmatism was 1.68±0.83 D; total corneal aberrometric root mean square (RMS) was 2.237±0.795µm; higher-order aberrations (HOAs) RMS were 0.576±0.272µm; mean AL was 25.63±3.65mm; mean ECC was 3315±459cell/mm2; mean CBI was 0.13±0.24, mean TBI was 0.31±0.25, mean posterior elevation was 4.3±4.5µm; mean total corneal densitometry was 16.0±2.14 grayscale units (GSU). CONCLUSION: Increased axial length, flatter and thicker corneas with higher regular astigmatism, normal densitometry, normal corneal biomechanical indices and normal posterior elevation were observed in Marfan patients with EL.

The role of genetic testing in Marfan syndrome.

PURPOSE OF REVIEW: This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management. RECENT FINDINGS: The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management. SUMMARY: Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.