Background/Objectives: To evaluate how the surgical technique and type of implanted intraocular lens influence the postoperative visual acuity and complications in ectopia lentis associated to Marfan syndrome patients. Materials and Methods: The medical records and videos of ectopia lentis surgeries in patients (children and adults) with Marfan syndrome, were retrospectively reviewed and compared. The study included 33 eyes that underwent four different intraocular lens implantation (IOL) techniques: IOL in conjunction with a simple capsular tension ring, IOL in conjunction with a Cionni modified capsular tension ring (m-CTR), two-point scleral IOL fixation and IOL with one haptic in the bag and one haptic sutured to the sclera. Results: Vision significantly improved from a mean preoperative visual acuity of 0.1122 to a mean postoperative visual acuity of 0.4539 in both age groups (p < 0.0001), with no difference in the primary outcome between children and adults. The most common surgical technique used in both age groups was IOL in conjunction with an m-CTR. There was only one major postoperative complication requiring additional surgery. Conclusions: Zonular weakness mainly influenced by age was the most important selection criterion for the surgical approach. Regardless of the technique employed, the postoperative visual acuity was improved in both adults and children.

UNASSIGNED: Marfan Syndrome (MFS), a genetic disorder impacting connective tissue, manifests in a wide array of phenotypes which can affect numerous bodily systems, especially the thoracic aorta. The syndrome often presents distinct facial features that potentially allow for diagnostic clinical recognition. Herein, we explore the potential of Artificial Intelligence (AI) in diagnosing Marfan syndrome from ordinary facial images, as assessed by overall accuracy, F1 score, and area under the ROC curve.
UNASSIGNED: This study explores the utilization of Convolutional Neural Networks (CNN) for MFS identification through facial images, offering a novel, non-invasive, automated, and computerized diagnostic approach. The research examines the accuracy of Neural Networks in the diagnosis of Marfan Disease from ordinary on-line facial images. The model was trained on 80 % of 672 facial images (182 Marfan and 490 control). The other 20 % of images were used as the test set.
UNASSIGNED: Overall accuracy was 98.5 % (0 % false positive, 2 % false negative). F1 score was 97 % for Marfan facies and 99 % for non-Marfan facies. Area under the ROC curve was 100 %.
UNASSIGNED: An Artificial Intelligence (AI) program was able to distinguish Marfan from non-Marfan facial images (from ordinary on-line photographs) with an extremely high degree of accuracy. Clinical usefulness of this program is anticipated. However, due to the limited and preliminary nature of this work, this should be viewed as only a pilot study.

OBJECTIVE: This study aimed to describe the levels of self-care behaviors and self-care self-efficacy in patients with Marfan syndrome and to identify the individual-level determinants of self-care behaviors.
BACKGROUND: The behaviors aimed at maintaining health stability (self-care maintenance), monitoring signs and symptoms (self-care monitoring), and taking action when signs and symptoms occur (self-care management) are key aspects of the care for addressing the complexity of care of patients with Marfan syndrome. However, the description of self-care behaviors and their determinants in patients with Marfan syndrome are highly under-described.
METHODS: The adopted design was descriptive observational with a cross-sectional data collection on 111 patients with MFS in a single Italian specialized and reference center for this disease between 2020 and 2021.
RESULTS: Performing healthy activities and managing illness, therapies, and follow-ups to maintain health over time (self-care maintenance) was almost adequate (mean score = 67.87 ± 13.17), as well as the ability to recognize signs and symptoms promptly (self-care monitoring, mean score = 67.95 ± 26.70). The ability to respond to symptoms when they occur (self-care management, mean score = 54.17 ± 19.94) was sub-optimal. The stronger positive predictor of each self-care behavior was self-care self-efficacy.
CONCLUSIONS: This study suggested prioritizing educational activities focused on enhancing self-care management in patients with Marfan syndrome and strengthening their self-care self-efficacy. Researchers should develop and validate evidence-based educational approaches to enhance self-care in patients with Marfan syndrome, and clinical nurses should strengthen their focused educational activities to improve the self-care management of these patients.

BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country.
METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality.
RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030).
CONCLUSIONS: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.

Patients with Marfan syndrome have a constellation of clinical features and a heterogeneous phenotype. The purpose of this study is to report a 47-year-old male patient with an unusual variant in the FBN1 gene causing Marfan syndrome. The patient with musculoskeletal, cardiovascular, and ocular findings compatible with Marfan syndrome had an unusual pathogenic mutation on the FBN1 gene. The patient was examined by at least one of the authors (NJI). The patient\'s clinical findings were compatible with Marfan syndrome. Our patient had a unique mutation in the FBN1 gene (c.8054A>G p.His2685Arg) located on exon 65. Next-generation sequencing was done using the Invitae panel. This variant was categorized as one of uncertain significance. This patient\'s variant on the FBN1 gene leading to the syndrome has scant data associated with it and this is the first time it is reported from Puerto Rico.

BACKGROUND: This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate the factors associated with HRQoL in this population. Sixty-three children with MFS and 124 age- and sex-matched healthy children were recruited. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™) generic questionnaire. The correlation between HRQoL scores and the different continuous parameters (age, body mass index, disease severity, systemic score, aortic sinus diameter, and aerobic physical capacity) was evaluated using Pearson\'s or Spearman\'s coefficient. A multiple linear regression analysis was performed on the two health summary self-reported PedsQL™ scores (physical and psychosocial) to identify the factors associated with HRQoL in the MFS group.
RESULTS: Except for emotional functioning, all other domains of HRQoL (psychosocial and physical health, social and school functions) were significantly lower in children with MFS compared to matched healthy children. In the MFS group, the physical health summary score was significantly lower in female than in male patients (self-report: absolute difference [95%CI] = -8.7 [-17.0; -0.47], P = 0.04; proxy-report: absolute difference [95%CI] = -8.6 [-17.3; 0.02], P = 0.05) and also negatively correlated with the systemic score (self-report: R = -0.24, P = 0.06; proxy-report: R = -0.29, P = 0.03) and with the height Z-score (proxy-report: R = -0.29, P = 0.03). There was no significant difference in the physical health summary scores between the different genetic subgroups. In the subgroup of 27 patients who performed a cardiopulmonary exercise test, self- and proxy-reported physical health summary scores were highly correlated with their aerobic physical capacity assessed by peak oxygen consumption (VO2max) and ventilatory anaerobic threshold (VAT). In the multivariate analysis, the most important independent predictors of decreased physical health were increased height, decreased body mass index, decreased VAT and use of prophylactic therapy.
CONCLUSIONS: This study reports an impaired HRQoL in children and adolescents with MFS or related conditions, in comparison with matched healthy children. Educational and rehabilitation programs must be developed and evaluated to improve exercise capacity and HRQoL in these patients.
BACKGROUND: ClinicalTrials.gov, NCT03236571 . Registered 28 July 2017.

OBJECTIVE: 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.
RESULTS: Based on the medical collaboration for the management of cardiovascular complications in patients and their relatives, interprofessional collaboration was identified, such as collaboration and cooperation between physicians and certified genetic counselors, and nursing practice to facilitate interprofessional collaboration. In addition, issues such as difficulties in dealing with and coordinating medical care for noncardiovascular complications, lack of specialist physicians, and lack of opportunities to collaborate with nurses were identified.
CONCLUSIONS: Effective interprofessional collaboration requires the acquisition of Marfan syndrome and genetic knowledge by healthcare providers and the development of a healthcare delivery system based on departments that can provide leadership. In addition, the assignment of nurses to work across organizational boundaries and effective collaboration between genetic counselors and nurses should be considered.

OBJECTIVE: To evaluate the safety and efficacy of capsular tension ring and capsular hook (CTR-CH) implantation in Marfan syndrome (MFS) patients with ectopia lentis (EL).
METHODS: Eye and ENT Hospital of Fudan University, Shanghai, China.
METHODS: Retrospective propensity score-matched cohort study.
METHODS: This study included patients with MFS who had in-the-bag intraocular lens (IOL) implantation assisted by CTR-CH or modified CTR (MCTR). The safety analysis focused on the resurgery rate. The efficacy analysis compared the corrected distance visual acuity (CDVA) and the incidence of laser capsulotomy after propensity score matching (PSM).
RESULTS: This study encompassed 148 eyes that had the CTR-CH procedure and 162 eyes that received MCTR implantation. In the CTR-CH group, the median age at the time of surgery was 5 years, with a mean follow-up duration of 1.81 ± 0.4 years. 5 eyes (3.38%) required a second surgery because of retinal detachment (2, 1.35%), IOL decentration (2, 1.35%), and CH dislocation (1, 0.68%). The resurgery rate was comparable with that of the MCTR group ( P = .486). After PSM, a total of 108 eyes were recruited in each group. Postoperative CDVA was significantly improved in both groups (both P < .001), but comparable between the groups ( P = .057). The posterior capsular opacification took place earlier ( P = .046) while the anterior capsular opacification required laser capsulotomy at a later stage ( P = .037) compared with the MCTR group.
CONCLUSIONS: The CTR-CH procedure was a feasible, safe, and efficient approach for managing EL in patients with MFS.

Patients with Marfan syndrome (MFS) present with various symptoms, such as aortic aneurysm/dissection, tall stature, and lens deviation. Among them, acute aortic dissection is a complication that leads to sudden death. Some individuals with MFS are reluctant to see a cardiologist and discontinue regular checkups until they develop life-threatening complications. We conducted a grounded theory study to investigate how individuals with MFS decided whether to adhere to healthcare recommendations, specifically to attend cardiology appointments. The study recruited individuals with a clinical or genetic diagnosis of MFS from a Japanese university hospital and individuals from a support group. Semi-structured interviews were conducted with 28 consenting participants. In this study, we identified the decision-making processes of individuals with MFS concerning their cardiology visits. We extracted \"perception of the gap between their health status and medical recommendations\" as the central category. This decision-making process consisted of three parts: (A) the process by which an individual with MFS sees a cardiologist for the first time, (B) the process by which an individual with MFS keeps up with cardiology checkups, and (C) the process by which parents bring their children with MFS to the cardiologist. Individuals who learned of the possibility of MFS decided whether to adhere to medical recommendations depending on how they perceived the gap between their health status and the medical recommendations. In addition to medical information and treatment experience, adaptation to MFS, which changed through interactions with others, influenced the perception of the gap. This study suggests the role of genetic counseling and molecular genetic diagnosis as factors that may facilitate adaptation to MFS. The involvement of genetic counselors is important for helping individuals with MFS keep up with regular checkups while affirming their own experiences. These results provide insight into adherence to medical recommendations for individuals with MFS.

UNASSIGNED: Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by pathogenic variants of the fibrillin-1-encoding FBN1 gene that commonly affects the cardiovascular, skeletal, and ocular systems. This study aimed to evaluate the clinical features and genetic causes of the MFS phenotype in a large Iranian family.
UNASSIGNED: Seventeen affected family members were examined clinically by cardiologists and ophthalmologists. The proband, a 48-year-old woman with obvious signs of MFS, her DNA sample subjected to whole-exome sequencing (WES). The candidate variant was validated by bidirectional sequencing of proband and other available family members. In silico analysis and molecular modeling were conducted to determine the pathogenic effects of the candidate variants.
UNASSIGNED: The most frequent cardiac complications are mitral valve prolapse and regurgitation. Ophthalmic examination revealed iridodonesis and ectopic lentis. A heterozygous missense variant (c.2179T>C/p.C727R) in exon 19 of FBN1 gene was identified and found to cosegregate with affected family members. Its pathogenicity has been predicted using several in silico predictive algorithms. Molecular docking analysis indicated that the variant might affect the binding affinity between FBN1 and LTBP1 proteins by impairing disulfide bond formation.
UNASSIGNED: Our report expands the spectrum of the Marfan phenotype by providing details of its clinical manifestations and disease-associated molecular changes. It also highlights the value of WES in genetic diagnosis and contributes to genetic counseling in families with MFS.