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.

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.

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.

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.

Our purpose is to report a patient with a novel variant in the fibrillin-1 (FBN1) gene causing the Marfan syndrome (MFS). The 29-year-old female patient with musculoskeletal, cardiovascular, and ocular findings compatible with the MFS had a novel pathogenic mutation on the FBN1 gene. We report on a patient whose clinical findings are compatible with the MFS. This patient\'s variant on the FBN1 gene leading to the syndrome has not been previously described. Additional investigations are needed to determine whether this variant contributes to the development of camptodactyly in patients with the syndrome.

UNASSIGNED: Aortic regurgitation (AR) associated with detachment of the aortic valve commissure is extremely rare. We present a case of progressively worsening severe chronic AR due to detachment of the aortic valve commissure during hospitalization that was confirmed with multimodality imaging.
UNASSIGNED: A 50-year-old male with Marfan syndrome visited our hospital to receive treatment for cholelithiasis. Pre-operative examination revealed severe AR and aortic root aneurysm. Because the patient was asymptomatic, it was decided that cholecystectomy should be performed first. However, the patient\'s heart failure worsened acutely when his blood pressure increased just before induction of anaesthesia. The patient required intubation and management of heart failure. Five days later, the patient underwent cholecystectomy. He was treated for heart failure and underwent open heart surgery on the 35th hospital day. Intraoperative transoesophageal echocardiography revealed that his AR was caused by both enlargement of the aortic root and localized dissection of the aortic valve commissure, which was supported by intraoperative findings and histopathological evaluation. Aortic regurgitation was exacerbated by a new localized dissection, resulting in acute worsening of heart failure.
UNASSIGNED: Aortic valve commissure detachment can easily lead to sudden onset of severe AR, deteriorating haemodynamics, and acute pulmonary oedema. Since delayed medical treatment leads to poor clinical outcomes, prompt and accurate diagnosis and appropriately timed surgical intervention are essential. This very rare case of severe AR worsening due to spontaneous aortic valve commissure dissection was evaluated with multiple modalities during hospitalization. Understanding this clinical condition will help cardiologists provide better medical care.

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. Surgery was performed; however, the patient died due to cardiac arrest. In conclusion, main pulmonary artery dilatation and aneurysms are uncommon in Marfan syndrome; therefore, presentation with these findings during the fetal life, as in the present case, is likely a sign of severe Marfan syndrome-related cardiac involvement.

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. The patient\'s symptoms were exhaustion, giddiness, dyspnea, and decreased mobility. The objective of this case study was to describe the impact of graded mobilization and pacing techniques in maximizing functional mobility and alleviating symptoms associated with aortic regurgitation and aortic root dilatation through an extensive physiotherapy program. Exercises addressing dyspnea, lung capacity, posture, functional mobility, and fatigue reduction were included in the physiotherapy intervention. The rehabilitation outcome showed a notable shift of score from 3 to 0.5 on the Borg scale of dyspnea, indicating enhanced functional capacity and improved quality of life. Post-rehabilitation, the patient exhibited significant progress in the two-minute walk test. This case highlights the importance of tailored interventions in managing MFS-related cardiac complications.

BACKGROUND: Marfan syndrome, a connective tissue disorder, poses unique challenges in neurosurgery, given the fragility of vascular structures. Superior cerebellar artery (SCA) aneurysms in patients with the syndrome are rare and present distinct surgical difficulties, necessitating innovative approaches.
METHODS: A 29-year-old male with Marfan syndrome presented with a subarachnoid hemorrhage from a ruptured SCA aneurysm. Given the lack of a defined aneurysm neck and the small diameter of the SCA, standard clipping and endovascular therapies were unsuitable. A microsurgical approach using microsutures was successfully employed, effectively managing the aneurysm while preserving the parent artery.
CONCLUSIONS: This case underscores the efficacy of the microsuture technique in complex neurosurgical scenarios, particularly in patients with connective tissue disorders such as Marfan syndrome. The adaptability of surgical strategies, as demonstrated in this case, is crucial for achieving successful outcomes in patients with unique anatomical challenges.