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.

The cervical aortic arch (CAA) is an uncommon congenital anomaly in aortic development, characterized by an elongated aortic arch extending at or above the medial ends of the clavicles. Our objective was to examine the clinical and surgical characteristics of this infrequent condition in the adult population. PubMed, ScienceDirect, SciELO, DOAJ, and Cochrane Library databases were searched until December 2023 for case reports describing the presence of a cervical aortic arch in patients aged ≥18 years. Case reports and series were included if the following criteria were met: (1) description of the cervical aortic arch, (2) age ≥18 years, and (3) English language. The literature search identified 2,325 potentially eligible articles, 61 of whom met our inclusion criteria and included a combined number of 71 patients. Mean age was 38.6 ± 15.4 years, with a female prevalence of 67.1% (47/70). Two-thirds of the CAA were left-sided (48/71, 67.6%), and 62.0% (44/71) of patients presented a concomitant arch aneurysm. Asymptomatic patients were 45.7% (32/70), while of those that were symptomatic, 60.5% (23/38) had symptoms related to vascular-induced compression of trachea and esophagus. Surgery was performed in 42 patients (62.7%) among 67 cases that reported the patient\'s treatment, and 5 patients (11.9%) among those surgically treated underwent the procedure through an endovascular approach. CAA is an uncommon congenital abnormality that presents challenges in diagnosis and treatment due to its high anatomical variability, diverse clinical manifestations, and presence of concomitant diseases. Surgery seems to be a safe and effective option for the resolution of symptoms.

Pulmonary hypertension is a condition characterised by elevated pulmonary arterial pressures secondary to various aetiologies; the most common ones are left heart diseases. Similarly, an association between thyroid diseases and pulmonary hypertension has been reported in some cases, but the pathophysiological relationship has not been fully elucidated. Etiological investigation is an important step in the management of pulmonary hypertension and determines the appropriate treatment. In this report, we present a case of severe pulmonary hypertension in a 57-year-old woman, in which mixed aortic valve disease and hypothyroidism were involved.

UNASSIGNED: Aneurysms in systemic arteries are rare, and little is known about their relationship with aortic aneurysms. In this study, we aimed to evaluate the prevalence of aortic aneurysms and dissections (AAD) in patients with other systemic vessel aneurysms and dissections (OVAD) and identify their potential risk factors.
UNASSIGNED: This cross-sectional study used a nationwide representative cohort sample from the Korea National Health Insurance Service-National Sample Cohort database. We defined OVAD as systemic vessel aneurysms and dissections excluding intracranial and aortic dissections and aneurysms. With a total of 690 OVAD patients and 2,760 non-OVAD matched controls, we investigated the prevalence of AAD in patients with OVAD and potential risk factors for their concurrence using the χ2 test and logistic regression.
UNASSIGNED: The prevalence of AAD in patients with OVAD was 10.6% (73/690) and 0.3% (9/2,760) in patients with non-OVAD. The adjusted odds ratio (OR) for having concurrent AAD with OVAD was 37.56 (95% CI: 18.29-77.12, p < 0.001) after stratification by sex, age, income, region of residence and after adjustment for hypertension, diabetes mellitus, dyslipidemia, and extent of disability. The adjusted ORs of AAD were significantly higher in females [adjusted OR = 47.63 (95% CI: 10.72-211.55)], and individuals aged ≥60 years [adjusted OR = 28.18 (95% CI: 13.42-59.17)], as well as those without hypertension [adjusted OR = 95.44 (95% CI: 18.21-500.23)], diabetes mellitus [adjusted OR = 46.39 (95% CI: 18.85-114.17)], without dyslipidemia [adjusted OR = 60.99 (95% CI: 20.83-178.56), p < 0.001 for all]. The prevalence of AAD significantly differed by according to specific sites of OVAD in carotid artery, upper extremity artery, iliac artery, lower extremity artery, and splanchnic artery (p < 0.001 for all).
UNASSIGNED: The prevalence of AAD in patients with OVAD was 37.56 times higher than that in the matched population. We may approach aneurysms as systemic diseases and further investigations of pathophysiology would help to clarify the relationships between AAD and OVAD.

UNASSIGNED: Ascending aortic pseudoaneurysms (AAPs) are an unusual complication of cardiac or aortic surgery and are associated with a high risk of complications and mortality. Guidelines recommend surgical repair. There is few data concerning percutaneous occlusion of AAP. We present a case of syncope due to vascular and heart chamber compression by a large post-surgical AAP that was filled through a focal leak. Ascending aortic pseudoaneurysm was successfully occluded percutaneously.
UNASSIGNED: A 66-year-old man with a mechanical aortic prosthesis and a Dacron tube in the ascending aorta presented with syncope due to compression of the right atrium and superior vena cava by a large peritube collection. A computed tomography angiography (CTA) showed a large AAP that was filled through a small focal dehiscence of the tube proximal suture. Patient was dismissed for surgery due to high surgical risk. Then, AAP was successfully occluded percutaneously via a 6-French radial access and local anaesthesia.
UNASSIGNED: In patients with syncope and previous cardiac surgery, aortic complications should be ruled out. Although transthoracic echocardiography may be useful, CTA is the recommended diagnostic test for ruling out post-surgical AAP and allows the characterization of the number, localization, and size of the leaks. In selected patients with high surgical risk and favourable anatomic characteristics, a percutaneous closure could be indicated.

BACKGROUND: Aortoesophageal fistulae are an uncommon pathology, primarily due to the aortic pathology in more than 50 % of the cases, followed by foreign body ingestion, and advanced malignancies. Recently it is recognized after surgical management of thoracic aortic pathologies either open or endovascular, with increased rates of morbidity and mortality.
METHODS: We present a 62-year-old male patient with a previous history of thoracic endovascular aortic repair, who enters the emergency room with gastrointestinal bleeding and clinical signs of infection. Positive blood cultures, and tomographic signs include prosthetic gas, with endoscopic findings of aortoesophageal fistulae. Aggressive surgical management was performed including esophageal resection and gastrointestinal exclusion. Bleeding control was reached in the early postoperative period, nevertheless despite multidisciplinary management, the patient died 8 days after surgery.
UNASSIGNED: Aortoesophageal fistulae, remains to be an uncommon complication either of thoracic aortic aneurysm or after endovascular treatment of aortic aneurysm; with high rates of morbidity and mortality, should be suspected in every case with upper gastrointestinal bleeding in the context of a patient with aortic disease. Non-surgical management should be avoided due to the high risk of complications and mortality, aggressive management needs to be considered in each case according to clinical condition of the patient.
CONCLUSIONS: Aortoesophageal fistulae remain an uncommon complication after TEVAR, with increased mortality and morbidity rates after complete treatment. Conservative management should be avoided to achieve bleeding control and prevent the extension of the infection.

Aortic diseases requiring surgery in childhood are distinctive and rare. Very few reports in the literature account for the occurrence of multiple thoracic aortic aneurysms in the same pediatric patient because of a genetic cause. We report a rare occurrence of severe thoracic aortic aneurysms (involving the ascending, arch and descending aortic segments) with severe aortic insufficiency in a 7-year-old female child secondary to the extremely rare and often lethal genetic disorder, cutis laxa. She was eventually identified as a carrier of a homozygous EFEMP2 (alias FBLN4) mutation. This gene encodes the extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B that leads to severe aortopathy with aneurysm formation and vascular tortuosity. Parents of the child were not known to be consanguineous. Significant symptomatic improvement in the patient could be discerned after timely intervention with the valve-sparing aortic root replacement (David V procedure) and a concomitant aortic arch replacement. This is a unique report with a successful outcome that highlights the occurrence of a rare hereditary aortopathy associated with a high morbidity and mortality, and the importance of an early diagnosis and timely management. It also offers insight to physicians in having a very broad differential and multimodal approach in handling rare pediatric cardio-pathologies with a genetic predisposition.

OBJECTIVE: The coronavirus disease (COVID-19) increases the respiratory complications and carries a higher mortality in the immediate postoperative period. The aim of this study was to analyze the outcomes of patients with type A acute aortic syndromes (AAS) diagnosed with COVID-19 in the perioperative period.
METHODS: Retrospective analysis of prospectively collected data between March and August 2020 from 20 participating cardiac surgery centers in the United Kingdom.
RESULTS: Among 122 patients who underwent emergency surgical repair for type A AAS at the participating centers, 3 patients (2.5%) tested positive for COVID-19 in the preoperative screeing, and 4 cases turned to be positive in the postoperative period having been operated on an unknown COVID-19 status. Another patient was diagnosed of COVID-19 disease based on radiological features. These eight patients had increased postoperative complications, including respiratory failure, longer ventilation times, and Intensive Therapy Unit (ITU) stay and increased mortality when compared with COVID-19 negative patients.
CONCLUSIONS: COVID-19 disease in the perioperative period of type A AAS poses a challenge. Despite the increasing morbidity and mortality associated with the virus, the prognosis of the aortic disease is poorer and emergency surgery should not be contraindicated based on the COVID-19 diagnosis alone.

Uretero-arterial fistula (UAF) is a rare complication of either aneurysmal disease primarily or pelvic inflammation secondary to urologic, oncologic, or vascular interventions. Diagnosis can be difficult to confirm and treatment may need to proceed on high index of suspicion alone. We present the case of a 56-year-old woman suffering from intermittent hematuria after laser lithotripsy leading to UAF between her left ureter and left Dacron aortobifemoral bypass limb. The fistula was successfully treated with endovascular intervention.

BACKGROUND: Aortic dissection is a relatively uncommon, but often catastrophic disease that requires early and accurate diagnosis. It often presents in patients with congenital connective tissue disorders. The current aortic surgical techniques are related with serious early and late complications. This case report emphasizes the importance of early diagnosis of aortic root dilatation and the risk of dissection, especially in patients with congenital connective tissue disorders. We present an alternative, contemporary and multidisciplinary approach based on the present state of knowledge.
METHODS: We present a rare case of a young female patient with Loeys-Dietz syndrome who was admitted with an uncomplicated aortic dissection (Stanford type B / DeBakey type III) and a dilated aortic root. After a period of close surveillance and extensive vascular imaging, thoracic endovascular aortic repair was deemed to be technically not possible. Medical treatment was optimized and our patient successfully underwent a personalised external aortic root support procedure (PEARS) as a contemporary alternative to existing aortic root surgical techniques.
CONCLUSIONS: This case highlights the importance of interdisciplinary approach, close follow-up and multimodality imaging. The decision to intervene in a chronic type B aortic dissection is still challenging and should be made in experienced centers by an interdisciplinary team. However, if an acute complication occurs, thoracic endovascular aortic repair TEVAR is the method of choice. In all cases optimal medical treatment is important. There is increasing evidence that personalized external aortic root support procedure PEARS is effective in stabilizing the aortic root and preventing its dilatation and dissection not only in patients with Marfan syndrome, but also in other cases of aortic root dilation of other etiologies. Moreover, many publications have reported the additional benefit of reduction or even eradication of aortic regurgitation by improving coaptation of the aortic valve leaflets in dilated aortas.