Marfan syndrome

PURPOSE: There remains a need for improved imaging markers for risk stratification and treatment guidance in Marfan syndrome (MFS). After aortic root replacement (ARR), vascular remodeling and progressive aneurysm formation can occur due to alterations in up- and downstream wall biomechanics and hemodynamics. We aim to compare the ventriculo-vascular properties of patients with MFS with controls, and investigate the correlation between ascending aortic area strain and descending aortic area strain (DAAS) with other clinical variables...

PURPOSE: Dural ectasia (DE) may significantly impact Marfan syndrome (MFS) patients' quality of life due to chronic lower back pain, postural headache and urinary disorders. We aimed to evaluate the association of quantitative measurements of DE, and their evolution over time, with demographic, clinical and genetic characteristics in a cohort of MFS patients. METHODS: We retrospectively included 88 consecutive patients (39% females, mean age 37.1 ± 14...

AIMS: The aim of this study was to analyse the effective lens position (ELP) in patients with Marfan syndrome (MFS) and ectopia lentis (EL). METHODS: Patients with MFS undergoing lens removal and primary intraocular lens (IOL) implantation were enrolled in the study. The back-calculated ELP was obtained with the vergence formula and compared with the theoretical ELPs. The back-calculated ELP and ELP error were evaluated among demographic and biometric parameters, including axial length (AL), corneal curvature radius (CCR) and white-to-white (WTW)...

PURPOSE: Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears, but rarely with lethal cardiovascular manifestations as in Marfan syndrome. It is imperative to conduct a comprehensive analysis and review of the pathogenesis of CCA resulting from pathogenic variants in FBN2 gene...

INTRODUCTION: Engaging patients living with or at risk for aortic dissection via the Aortic Dissection Collaborative, physician education in vascular genetics was identified as a research priority. We surveyed vascular surgeons to characterize practice patterns, motivations, and barriers regarding aortopathy genetic testing. METHODS: An anonymous 27-question survey was distributed on social media platforms between November and December 2022. Domains included: demographics, vascular genetic education, testing attitudes and utilization, and experience in treating patients with genetic vascular aortopathies...

No abstract text is available yet for this article.

OBJECTIVES: Isolated abdominal aortic dissection (IAAD) is a rare entity with poorly defined risk factors and wide variation in management. We set forth to compare patient characteristics, management, and outcomes of uncomplicated IAAD (uIAAD) versus high risk and complicated IAAD (hrcIAAD) to investigate whether these categories can be utilized to guide IAAD management and provide risk stratification for intervention. METHODS: Retrospective chart review was performed to identify all patients with spontaneous IAAD at a tertiary health care system between 1996 and 2022...

BACKGROUND: Acute Type A aortic dissection (ATAAD) is a life-threatening cardiovascular disease associated with high mortality rates, where surgical intervention remains the primary life-saving treatment. However, the mortality rate for ATAAD operations continues to be alarmingly high. To address this critical issue, our study aimed to assess the correlation between preoperative laboratory examination, clinical imaging data, and postoperative mortality in ATAAD patients. Additionally, we sought to establish a reliable prediction model for evaluating the risk of postoperative death...

BACKGROUND AND AIM: Patients with Marfan syndrome, who present with a variety of symptoms and complex psychosocial problems, require interprofessional collaboration in their care. However, it is unclear how health care providers contribute to interprofessional collaboration for these patients. The purpose of this study was to determine the characteristics of interprofessional collaboration for patients with Marfan syndrome in the cardiovascular field. METHODS: Semi-structured interviews were conducted with health care specialists (5 physicians, 2 nurses, and 3 certified genetic counselors) were analyzed qualitatively...

Aortic root aneurysm is a potentially life-threatening condition that may lead to aortic rupture and is often associated with genetic syndromes, such as Marfan syndrome (MFS). Although studies with MFS animal models have provided valuable insights into the pathogenesis of aortic root aneurysms, this understanding of the transcriptomic and epigenomic landscape in human aortic root tissue remains incomplete. This knowledge gap has impeded the development of effective targeted therapies. Here, this study performs the first integrative analysis of single-nucleus multiomic (gene expression and chromatin accessibility) and spatial transcriptomic sequencing data of human aortic root tissue under healthy and MFS conditions...

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...

Two major constituents of exfoliation material (XFM), fibrillin- 1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1) are implicated in exfoliation glaucoma (XFG), yet their individual contributions to ocular phenotype are minor. To test the hypothesis that a combination of FBN1 mutation and LOXL1 deficiency exacerbates ocular phenotypes, pan-LOX inhibitor, β-aminopropionitrile (BAPN) was used to treat adult wild-type (wt) and Fbn1C1041G/+ mice for 8 weeks and their eyes were examined. Although intraocular pressure was not changed and XFM not detected in the eyes, BAPN treatment worsened optic nerve and axon expansion in Fbn1C1041G/+ mice, an early sign of axonal damage in rodent models of glaucoma...

A 30-year-old woman with ankylosing spondylitis was referred to our clinic with abnormal fetal echocardiography findings, including ascending aortic dilatation, giant main pulmonary artery aneurysm, and aortic and pulmonary valve stenosis at 22 weeks of gestation. The full-term male neonate was born by cesarean section and was transferred to the cardiac intensive care unit soon after delivery for respiratory distress with low percutaneous oxygen saturation. Based on cardiovascular and genetic analysis findings, the patient was diagnosed with Marfan syndrome...

INTRODUCTION: Ascending thoracic aortic aneurysms arise from pathological tissue remodeling that leads to abnormal wall dilation and increases the risk of fatal dissection/rupture. Large variability in disease manifestations across family members who carry a causative genetic variant for thoracic aortic aneurysms suggests that genetic modifiers may exacerbate clinical outcomes. Decreased perlecan expression in the aorta of mgΔ l p n mice with severe Marfan syndrome phenotype advocates for exploring perlecan-encoding Hspg2 as a candidate modifier gene...

Background: Thoracic aortic aneurysms (TAAs) associated with Marfan syndrome (MFS) are unique in that extracellular matrix metalloproteinase inducer (EMMPRIN) levels do not behave the way they do in other cardiovascular pathologies. EMMPRIN is shed into the circulation through the secretion of extracellular vesicles. This has been demonstrated to be dependent upon the Membrane Type-1 MMP (MT1-MMP). We investigated this relationship in MFS TAA tissue and plasma to discern why unique profiles may exist. Methods : Protein targets were measured in aortic tissue and plasma from MFS patients with TAAs and were compared to healthy controls...

BACKGROUND: We investigated the potential association between Marfan Syndrome (MFS) and adverse obstetric outcomes using the National Inpatient Sample (NIS) database. METHODS: We utilized the International Classification of Diseases (ICD-10) system to identify relevant codes and extracted data from the NIS database covering the period 2016-2019. Descriptive statistics and χ2 tests were employed to summarize and compare baseline characteristics. Univariate and multivariate regression analyses (adjusted for age, race, hospital region, smoking status, and alcohol misuse) were conducted to evaluate association between MFS and adverse obstetric outcomes...

OBJECTIVE: To evaluate the early and mid-term outcomes of open repair in patients with thoracoabdominal aortic aneurysm (TAAA) after thoracic endovascular aortic repair (TEVAR). METHODS: This was a retrospective single center study. Data were retrospectively collected and analyzed for consecutive patients undergoing open TAAA repair (TAAAR) after TEVAR from November 2016 to June 2021. Indications for TAAAR included aneurysm progression due to endoleak, persisted false lumen perfusion, proximal/distal disease progression, and aorta rupture...

No abstract text is available yet for this article.

BACKGROUND: Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This systematic review aimed at estimating the overall prevalence of MVP in individuals with the most common TSA, including not only the oldest studies (before the year 2000) but also the most recent ones (after the year 2000). METHODS: PubMed and EMBASE databases were systematically reviewed in November 2023...

Marfan syndrome (MFS) presents complex cardiovascular manifestations and challenges in management due to its impact on multiple body systems. This case study examines the clinical profile, diagnostic findings, and physiotherapy intervention for a 57-year-old male with MFS who experienced severe aortic and mitral valvular complications. The patient's admission was marked by fatigue, reduced mobility, breathlessness, and a confirmed diagnosis of MFS. Cardiac evaluation revealed severe regurgitation and aortic root dilation...