Mutations in fibrillin 1 (FBN1) is the main cause of Marfan syndrome (MFS) with thoracic aortic aneurysm (TAA) as the main complication. Activation of the complement system plays a key role in the formation of thoracic and abdominal aortic aneurysms. However, the role of the complement system in MFS-associated aortic aneurysms remains unclear. In this study, we observed increased levels of complement C3a and C5a in the plasma of MFS patients and mouse, and the increased deposition of the activated complement system product C3b/iC3b was also observed in the elastic fiber rupture zone of 3-month-old MFS mice. The expression of C3a receptor (C3aR) was increased in MFS aortas, and recombinant C3a promoted the expression of cytokines in macrophages. The administration of a C3aR antagonist (C3aRA) attenuated the development of thoracic aortic aneurysms in MFS mice. The increased inflammation response and matrix metalloproteinases activities were also attenuated by C3aRA treatment in MFS mice. Therefore, these findings indicate that the complement C3a/C3aR inhibition alleviates the formation of aortic aneurysm in Marfan syndrome mice.

Thoracic aortic aneurysms (TAAs) represent a serious health concern, as they are associated with early aortic dissection and rupture. TAA formation is triggered by genetic conditions, in particular Marfan syndrome (MFS) and bicuspid aortic valve (BAV). During the aneurysmatic process, aortic endothelial cells can undergo endothelial-to-mesenchymal transition (End-MT) with consequent phenotypic and functional alterations. We previously documented that MFS TAA is characterized by miR-632-driven End-MT exacerbation, whereas in BAV aortopathy, the occurrence of this process remains still controversial. We investigated the End-MT process and the underlined regulatory mechanisms in BAV, TAV and MFS TAA tissues. Gene expression and immunohistochemical analysis were performed in order to analyze some important miRNAs and genes characterizing End-MT. We documented that BAV endothelium maintains the expression of the endothelial homeostasis markers, such as ERG, CD31 and miR-126-5p, while it shows lower levels of miR-632 and mesenchymal markers compared with MFS. Interestingly, we also found higher levels of miR-632 in MFS patients\' blood. Our findings definitively demonstrate that the End-MT process does not characterize BAV that, among the other TAAs, better maintains the endothelial features. In addition, our results suggest miR-632 as a promising diagnostic/prognostic factor in MFS aortopathy.

BACKGROUND: The simultaneous diagnosis of severe aortic regurgitation and aortic root pseudoaneurysm resulting from traffic injury is extremely rare. This report presents the case of a patient with Marfan syndrome who experienced aortic root pseudoaneurysm and subacute severe aortic regurgitation following a traffic accident.
METHODS: A 64-year-old woman was diagnosed with Marfan syndrome 16 years ago and is undergoing ongoing follow-up at an outpatient clinic. Eight years previously, the patient underwent total arch replacement combined with J-graft open stent graft® (JGOS; Japan Lifeline Co., Tokyo, Japan) deployment for acute type A dissection. Five months before presentation, the patient suffered a left rib fracture in a traffic accident and received conservative management at a local hospital. The patient presented to the emergency room with worsening shortness of breath and orthopnea. Echocardiography revealed severe aortic regurgitation and moderate tricuspid regurgitation. Computed tomography revealed new-onset pseudoaneurysm at the aortic root. Surgical repair was successfully performed using a modified Bentall procedure with a bioprosthetic valve and tricuspid annuloplasty. Intraoperative findings revealed pseudoaneurysm with perforation of the right sinus of Valsalva. Although the left and right aortic valve leaflets were normal, the noncoronary leaflet exhibited a ruptured fibrous strand of a cusp fenestration, resulting in acute aortic regurgitation.
CONCLUSIONS: This case report highlights the rare occurrence of aortic root pseudoaneurysm and subacute aortic regurgitation following a traffic accident. In cases of blunt chest trauma, particularly in patients with Marfan syndrome, frequent examination is crucial to assess the possibility of posttraumatic aortic regurgitation and aortic injury.

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.

Marfan syndrome (MFS) is a connective tissue disorder caused by pathogenic mutations in FBN1. In bone, the protein fibrillin-1 is found in the extracellular matrix where it provides structural support of elastic fiber formation, stability for basement membrane, and regulates the bioavailability of growth factors. Individuals with MFS exhibit a range of skeletal complications including low bone mineral density and long bone overgrowth. However, it remains unknown if the bone phenotype is caused by alteration of fibrillin-1\'s structural function or distortion of its interactions with bone cells. To assess the structural effects of the fibrillin-1 mutation, we characterized bone curvature, microarchitecture, composition, porosity, and mechanical behavior in the Fbn1 C1041G/+ mouse model of MFS. Tibiae of 10, 26, and 52-week-old female Fbn1 C1041G/+ and littermate control (LC) mice were analyzed. Mechanical behavior was assessed via in vivo strain gauging, finite element analysis, ex vivo three-point bending, and nanoindentation. Tibial bone morphology and curvature were assessed with micro computed tomography (μCT). Bone composition was measured with Fourier transform infrared (FTIR) imaging. Vascular and osteocyte lacunar porosity were assessed by synchrotron computed tomography. Fbn1 C1041G/+ mice exhibited long bone overgrowth and osteopenia consistent with the MFS phenotype. Trabecular thickness was lower in Fbn1 C1041G/+ mice but cortical bone microarchitecture was similar in Fbn1 C1041G/+ and LC mice. Whole bone curvature was straighter below the tibio-fibular junction in the medial-lateral direction and more curved above in LC compared to Fbn1 C1041G/+ mice. The bone matrix crystallinity was 4 % lower in Fbn1 C1041G/+ mice compared to LC, implying that mineral platelets in LCs have greater crystal size and perfection than Fbn1 C1041G/+ mice. Structural and mechanical properties were similar between genotypes. Cortical diaphyseal lacunar porosity was lower in Fbn1 C1041G/+ mice compared to LC; this was a result of the average volume of an individual osteocyte lacunae being smaller. These data provide valuable insights into the bone phenotype and its contribution to fracture risk in this commonly used mouse model of MFS.

UNASSIGNED: Marfan syndrome is an inherited disorder that manifests with various cardiovascular conditions. This case report discusses a patient with Marfan syndrome presenting with concurrent dissecting aortic aneurysm and acute mitral valve regurgitation (MR), exploring treatment strategies for this unique case.
UNASSIGNED: A 57-year-old man diagnosed with Marfan syndrome presented with progressive dyspnoea and awareness of orthopnoea. Acute heart failure (HF) due to acute MR associated with chordae rupture was diagnosed. However, contrast-enhanced CT revealed the coexistence of a massive dissecting aortic aneurysm, indicating surgical intervention. The dissecting aortic aneurysm extended over a large area. Given the high risk of simultaneous surgery with the mitral valve, a staged approach was adopted. Mitral valve transcatheter edge-to-edge repair (MV-TEER) was performed as the initial step to reduce the perioperative HF risk, followed by a planned two-stage surgery for the dissecting aortic aneurysm. This strategy effectively facilitated surgical intervention for the dissecting aortic aneurysm in the chronic phase after MV-TEER.
UNASSIGNED: Several reports showed the effectiveness of MV-TEER in cases of degenerative MR where surgical operation carries a high risk, but case report of MV-TEER in Marfan syndrome is rare. In recent years, the effectiveness of MV-TEER has also been reported as a \'bridge therapy\' for heart transplantation. Mitral valve transcatheter edge-to-edge repair is considered a potential option to serve as a bridge to other invasive intervention.

UNASSIGNED: Lobar torsion is a rare, challenging diagnosis that requires a high index of suspicion and prompt investigation and management. Detection and urgent fixation or lung resection are critical to avoid catastrophic sequelae of lung necrosis, bronchopleural fistulae, and death.
UNASSIGNED: A case of lobar torsion following open repair of a type B aortic dissection and thoraco-abdominal aortic aneurysm in a patient with Marfan syndrome is presented. After a non-specific constellation of symptoms, the diagnosis was confirmed with computed tomography and bronchoscopic findings and the patient underwent detorsion and plication of a torted, yet viable, left upper lobe on post-operative day 6. The patient is currently being followed with serial imaging to follow a necrotic consolidation of the left upper lobe.
UNASSIGNED: This was a case of lobar torsion in a patient with Marfan syndrome and the degree of connective tissue disease may have predisposed the patient to this rare surgical complication. The case presents a challenging dilemma due to the risks associated with exposing a synthetic aortic graft to a potentially infected space if lobar resection or a pneumonectomy was performed.

UNASSIGNED: In heritable aortic diseases, different vascular involvement may occur with potential variable implications in aortic dilation/dissection risk. This study aimed to analyze the aortic anatomy of individuals with Marfan syndrome and Loeys-Dietz syndrome to identify possible morphological differences.
UNASSIGNED: Computed tomography and magnetic resonance imaging of the thoracoabdominal aorta from the proximal supra-aortic vessels to the femoral bifurcation level of 114 patients with Marfan and Loeys-Dietz syndromes and 20 matched control subjects were examined. Aortic diameters, areas, length, and tortuosity were measured in different aortic segments using specific vessel analysis software.
UNASSIGNED: Patients with Marfan syndrome showed a higher prevalence of ascending aorta and aortic root dilation (P = .011), larger and longer aortic roots (P = .013) with pear-shaped phenotype, larger isthmus/descending aorta diameter ratio (P = .015), and larger suprarenal aorta and iliac arteries. Patients with Loeys-Dietz syndrome showed longer indexed segments and a significantly longer arch (P = .006) with type 2/3 arch prevalence (P = .097). Measurement ratios analysis provided cut-off values (aortic root to ascending aorta length/aortic root diameter, aortic root/sinotubular junction, aortic root/ascending aorta diameter) differentiating patients with Marfan syndrome from patients with Loeys-Dietz syndrome, even in the early stage of the disease.
UNASSIGNED: Both syndromes show peculiar anatomic patterns at different aortic levels irrespective of aortic dilation and disease severity. These features may represent the expression of different genetic mutations on aortic development, with a potential impact on prognosis and possibly contributing to better management of the diseases. The systematic adoption of whole body imaging with magnetic resonance or computed tomography should always be considered, because they allow a complete vascular assessment with practical indicators of differential diagnosis.

Aim: To describe the case of a patient with Marfan syndrome who had bilateral superonasal lens subluxation. Method: The case of a male patient, aged 18, who complained of having impaired vision in both eyes (BE) since he was a toddler, was presented. On examination of the patient, features suggestive of Marfan syndrome were revealed, as well as bilateral intraocular lens subluxation. Results: The patient was refracted and glasses were recommended, which improved his vision. The patient was referred to the cardiology, orthopedic, and dental departments for a multidisciplinary approach to prevent complications and further management. Discussion: Lens subluxation is frequently presented as a primary clinical manifestation of Marfan syndrome. It can vary from asymptomatic, which is seen only after pupillary dilation, to significant subluxation, in which the equator of the lens in the pupillary axis causes diplopia or decreased vision. Conclusion: This case underscored the importance of considering the rare feature of Marfan syndrome.