Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?

Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behçet syndrome criteria. A MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management.

The effect of the learning curve on paravalvular aortic regurgitation and mid-term mortality in transfemoral transcatheter aortic valve implantation.

OBJECTIVE: Paravalvular aortic regurgitation is an important independent mortality predictor in transcatheter aortic valve implantation (TAVI). Our study evaluated the association between paravalvular aortic regurgitation and mid-term mortality in relation with the learning curve, in patients with severe aortic stenosis who underwent transfemoral TAVI in the first 3 years since the establishment of the program. METHODS: Patients with severe aortic stenosis who underwent transfemoral TAVI between 2017 and 2020 were included in the analysis. Paravalvular aortic regurgitation was assessed by transthoracic echocardiography at 48 hours after the procedure. All-cause mortality was evaluated after 30 days and at mid-term follow-up. RESULTS: Paravalvular aortic regurgitation ≥grade II was associated with mid-term all-cause mortality (OR 4.4; 95%CI 1.82-11.55; p < 0.001), their prevalence declining after the first 60 cases. Baseline characteristics did not significantly differ in the first 60 patients from the rest of the cohort. Male sex (p = 0.006), advanced age (p = 0.04), coronary artery disease (p = 0.003), or elevated STS Score (p = 0.02) influenced mid-term survival. When adjusting for the presence of these factors, only age (OR 1.1; 95%CI 1.0-1.2), paravalvular aortic regurgitation ≥grade II (OR 3.9; 95%CI 1.3-12.9), and the number of days spent in the intensive care unit (OR 1.4; 95%CI 1.1-1.8) were independent predictors of mid-term all-cause mortality. CONCLUSIONS: In a group of patients with severe aortic stenosis who underwent transfemoral TAVI in the first 3 years since the establishment of the program, paravalvular aortic regurgitation ≥grade II was associated with mid-term mortality, both declining after the first 60 cases.

The Effectiveness of Antiplatelet Therapy and the Factors Influencing It in Patients with Acute Coronary Syndrome before and during the COVID-19 Pandemic.

Background and Objectives: Dual antiplatelet therapy (DAPT) is essential in the treatment of patients with acute coronary syndrome (ACS). The objective of this study was to evaluate the effectiveness of antiplatelet medication in our practice and to investigate the factors that influence it. Materials and Methods: A prospective cohort observational study was conducted, in which 193 patients with ACS were enrolled. The patients were stented in the catheterization laboratory between May 2019 and October 2020, before and during the COVID-19 pandemic, and were receiving DAPT. Their platelet functions were tested using a Multiplate Analyzer. In addition to this, clinical data, demographics, laboratory tests, and cardiovascular risk factors were also analyzed. Results: 43.46% of the patients treated with aspirin were found to be resistant to it. This phenomenon was more common in men (48.17% vs. 31.48%, p = 0.036), and it was associated with being under the age of 50 (OR: 2.08; 95% CI: 1.11-3.90) and weighing over 70 kg (OR: 3.00; 95% CI: 1.21-7.40). Most of the patients treated with clopidogrel were in the optimal treatment window, while about half of the patients treated with ticagrelor had an exaggerated pharmacological response. Among the laboratory parameters, leukocytosis and platelet count were found to be determinants of platelet reactivity for both the aspirin and ticagrelor treatments. Conclusions: Many patients treated with antiplatelet agents are outside of the treatment window. The results obtained showed that low doses of gastro-resistant aspirin tablets are ineffective, and their efficacy can be influenced by various clinical and laboratory factors. Patients receiving ticagrelor have significantly reduced platelet reactivity, influenced only by certain laboratory indicators. The pandemic significantly influenced the results of the platelet aggregation tests only in patients treated with clopidogrel.

Superior Sinus Venosus Atrial Septal Defect with Partial Anomalous Pulmonary Venous Drainage-Minimally Invasive Approach-Case Report.

The atrial septal defect is, after bicuspid aortic valve disease, the most common congenital cardiac disease present in the adult population. The most common atrial septal defects are the ostium secundum type (75-80%), followed by the ostium primum type (15%). The sinus venosus atrial septal defects (SV-ASD), defined as a communication in the posterior part of the interatrial septum, account for about 5 to 10% of atrial septal defects. Approximately 90% of SV-ASDs are associated with partial anomalous pulmonary venous drainage (PAPVD). The minimally invasive approach has gained ground in the treatment of ASDs, especially those of the ostium secundum type. The sinus venosus type is a relatively uncommon form of ASD, which, when associated with a PAPVD, is considered a complex cardiac malformation, and is usually treated in a classical manner, through median sternotomy. We describe the case of a 45-year-old woman diagnosed in adolescence with SV-ASD with PAPVD, who successfully underwent minimally invasive repair with fresh autologous pericardial patch reconstruction through an anterolateral mini-thoracotomy incision. The patient presented with shortness of breath and fatigue after heavy exertions, episodes of paroxysmal nocturnal dyspnea, palpitations during effort and at rest, and had a history of syncope dating from 17 years previously. Echocardiography revealed an SV-ASD with PAPVD in the right atrium and the intraoperative examination discovered that both right pulmonary veins were draining into the superior vena cava.

Surgical Treatment in a High-Risk Pulmonary Embolism: Case Report.

We present the case of a 35-year-old woman who had a high-risk pulmonary embolism (according to ESC risk stratification for pulmonary embolism) after she had undergone a Caesarion section. Postoperatively, she presented with acute left lower limb pain, swelling and erythema. A diagnosis was made of deep vein thrombosis (DVT) of the ilio-femoral and popliteal veins. She was started on anticoagulant therapy, which proved to be inefficient, the patient developing a left calf and thigh oedema and shortness of breath. A CT scan revealed high-risk embolus located in the right atrium and through the tricuspid valve. The decision was made to refer her to a cardiovascular surgeon. During her preoperative evaluation, the patient became hemodynamically unstable and was rushed into the operating room, severely desaturated, bradycardic, without consciousness, with severe hypotension. On the basis of the severe state of the patient and the CT scan findings we performed an emergency pulmonary embolectomy, with the patient on cardio-pulmonary by-pass, without cross-clamping the aorta, using a modified Trendelenburg procedure. This case supports using open pulmonary embolectomy for patients with hemodynamic instability on the basis of clinical diagnosis.

Native Valve Infective Endocarditis - the Postoperative Results and Role of the Endocarditis Team. A Single Center Experience.

Background: Infective endocarditis (IE) may present with quite different aspects. Consequently, it's management involves a collaborative approach between several specialties. We analyzed the timing of surgery and the role of the "Endocarditis Team" in patients with IE. Methods: The medical records of patients operated for IE in our center during an 18-year period were retrospectively analyzed for the demographic data, causative agent, imagistic features of the affected valve and systemic lesion extension and postoperative results. Results: Patients age ranged between 7 and 84 years, and in many cases (55.88%) the etiology remained unidentified. The early postoperative complications were not significantly higher in patients operated in emergency compared to those with elective surgery. The overall early postoperative mortality rate was 14.05%, significantly lower in the elective surgery cases (p = 0.001). The long-term follow-up for patients operated between 2008 and 2017 showed a late postoperative death rate of 17.8% (34 patients). Conclusions: Emergency surgery for patients with native valve IE provides in most cases a good chance for a cure, despite the relatively high frequency of postoperative complications and rate of postoperative death. The advances in pre- and post-operative management of IE patients, as well as in surgical techniques and prosthetic valves seem to further improve the outcome.

The Best Approach for Patients with Stable Coronary Disease: The Importance of a Multidisciplinary Heart Team.

Background: A multidisciplinary Heart Team (HT) is nowadays considered to be of great importance for a complete and accurate assessment of patients with stable coronary disease (CAD). This study evaluates the role of the HT approach in the selection of best therapeutic strategies for patients with stable CAD. Methods: The study included 200 patients with stable coronary artery disease. The weekly HT meetings consisted of open discussion taking into consideration the latest recommended therapies. HT outcome options included medical therapy (MT), percutaneous coronary intervention (PCI), or surgical intervention (CABG). Following HT implementation, the 1-, 3-, and 6-month outcomes in addition to the distribution of baseline characteristics were assessed. Results: The following HT strategies were implemented: PCI - 46%, CABG - 10% and MT - 44% of patients. Patients selected for surgical treatment were more likely to have multi-vessel coronary disease (p=0.011). The survival rates at 6 months according to HT strategy were 96.8% for PCI, 95% for CABG, and 94.2% for MT. Conclusions: The HT multidisciplinary decision is mandatory for optimal patient care and can prevent specialty biases. Tertiary care institutions should develop and implement interdisciplinary protocols for common CAD cases.

Digital pressure in haemodialysis patients with brachial arteriovenous fistula.

Background & objectives: : The pathophysiological mechanisms involved in distal pressure changes following arteriovenous fistula (AVF) creation in patients with end-stage renal disease (ESRD) are not completely understood. This study was aimed to assess digital pressure changes post-AVF creation and to identify the factors that might influence these changes in ESRD patients. Methods: : In this prospective study, 41 patients with ESRD underwent AVF creation. Basal digital pressure (BDP), digital brachial index (DBI), calcium, phosphorus and blood urea levels were assessed preoperatively. BDP, DBI, vein and artery diameters, and AVF blood flow were also evaluated at one and two month(s) post-AVF creation. Results: : Mean BDP significantly decreased from 131.64±25.86 mmHg (baseline) to 93.15±32.14 and 94.53±32.90 mmHg at one and two months post-AVF creation, respectively (P <0.001). Mean DBI significantly decreased one month post-AVF creation versus baseline (0.70±0.18 vs. 0.89±0.17 mm, P <0.001) and remained similar at two versus one month(s) postoperatively (0.70±0.23 vs. 0.70±0.18 mm). At both postoperative timepoints, no correlation between DBI decrease and increased artery and vein diameters or fistula blood flow was observed. Mean DBI difference between patients with previous ipsilateral access versus those without was not significant from pre to one month postoperatively. No correlation was observed between baseline phosphorus, calcium and blood urea nitrogen and DBI changes. Interpretation & conclusions: : Our findings suggest that decrease in distal pressure following AVF creation may not be influenced by the arterial remodelling degree, vein diameter or fistula flow. In uraemic patients, those with low calcium and/or increased phosphorus, no association between these parameters and DBI changes could be observed.

Gastric Adenocarcinoma Associated with Acute Endocarditis of the Aortic Valve and Coronary Artery Disease in a 61-Year-Old Male with Multiple Comorbidities-Combined Surgical Management-Case Report.

The case of a 61-year-old male with a recent total gastrectomy for a hemorrhagic gastric tumor is presented, with the important co-morbidities of type II diabetes mellitus requiring insulin, chronic hepatitis C with liver dysfunction, stage II essential hypertension, chronic stage III renal disease peripheral type II aorto-iliac disease with stage II ischemia of both legs, and chronic anemia. About one month following the gastrectomy, the patient presented with fever and acute inflammatory syndrome. Severe aortic insufficiency, aortic valvular vegetations, and positive blood cultures with Staphylococcus saprophytic were found. The diagnosis of infectious endocarditis on the aortic valve was established (positive blood cultures with echocardiographic features of vegetations, fever), and antibiotic treatment with Levofloxacin and Vancomycin was initiated. The evolution was favorable with the remission of the inflammatory syndrome and quick cessation of fever. However, the hemodynamic aspect showed progressive heart failure with acute pulmonary edema. The transesophageal echocardiographic examination confirmed the existence of severe aortic insufficiency and valvular vegetations with a left ventricular ejection fraction of 38%. The coronary angiography revealed double vessel disease. The calculated Euroscore II was 33.4%. Aortic valve replacement with porcine xenograft and double coronary artery bypass graft surgery was performed. The patient had a favorable postoperative course remaining afebrile and out of heart failure, with the markers of inflammation largely within normal limits. The left ventricular ejection fraction increased to 50%. The successful outcome of this case, represented by a rare association of cancer, endocarditis, and coronary disease, reveals the importance of the multidisciplinary teams involved in this case: gastroenterology, general surgery, cardiology, infectious diseases, cardiac surgery, and intensive care. Therefore, in such cases with high risk, complex patients, a strong collaboration between all specialties is needed to overcome all of the limitations of the patient's co-morbidities.

Reply to Kawasaki et al. Comment on "Manole et al. Primary Pericardial Synovial Sarcoma: A Case Report and Literature Review. Diagnostics 2022, 12, 158".

Thank you for your comment; it adds value to the article and highlights the importance of molecular testing [...].

Prognostic Value of Myocardial Function Imaging Markers in Elderly Patients Undergoing Transcatheter Aortic Valve Replacement.

Background: Transcatheter aortic valve replacement (TAVR) became the leading therapeutic strategy for aortic valve replacement in older patients with severe symptomatic aortic stenosis. Echocardiographic parameters that mark the left ventricle and right ventricle reverse remodeling after the TAVR are not well established. The aim of the current study is to describe the dynamics of both left ventricle (LV) and right ventricle (RV) strain derived from speckle tracking echocardiography in elderly patients at 3-months after the TAVR procedure. Methods: We enrolled 52 consecutive patients (77 ± 4.9 years old, median STS score of 3.1) who underwent transfemoral TAVR at our tertiary care center. All patients were evaluated at baseline and 3 months following TAVR. Results: The LV global longitudinal strain (GLS) 3-month following TAVR was significantly improved compared with baseline values (-16 ±4.2% vs -16 ±4.2%; p < 0.001) but no significant changes in the RV GLS 3 and 6 segments model following TAVR were registered. The LV ejection fraction was significantly improved 3-months after the TAVR procedure. LV-GLS at baseline demonstrated a strong positive correlation with LV-GLS at 3 months (r = 0.69) and a moderate correlation with RV strain parameters (r = 0.38 and r = 0.56), but also a negative correlation with LVEF at follow-up (r=-0.61). Interestingly, in contrast to LVEF, none of the strain parameters correlated with age. NT-proBNP values were correlated with both LV-GLS (r = 0.37) and LVEF (r=-0.5) at baseline. However, at follow-up, baseline NT-proBNP values remained correlated only to LV-GLS at 3-months (r = 0.24), but the correlation was weak.

Surgical Atrial Septal Patch Endocarditis in a Patient with a Complete Corrected Atrioventricular Canal Defect: A Case Report and Review of the Literature.

Infective endocarditis (IE) is common in patients with corrected congenital heart disease (CHD) with a residual lesion, but is rarely found on surgical patches used to close atrial septal defects (ASDs). This is also reflected in the current guidelines that do not recommend antibiotic therapy for patients with a repaired ASD with no residual shunt six months after closure (percutaneous or surgical). However, the situation could be different in the case of mitral valve endocarditis, which causes leaflet disruption with severe mitral insufficiency and could seed the surgical patch. We present herein a 40-year-old male patient with a past medical history of a complete surgically corrected atrioventricular canal defect performed in childhood who presented with fever, dyspnea and severe abdominal pain. Transthoracic and transesophageal echocardiography (TTE and TEE) revealed vegetation at the level of the mitral valve and the interatrial septum. The CT scan confirmed ASD patch endocarditis and multiple septic emboli, guiding the therapeutic management. An accurate evaluation of cardiac structures should be mandatory when a systemic infection is detected in CHD patients, even if the defects were surgically corrected, because the detection and eradication of such infectious foci as well as a surgical reintervention are particularly difficult to achieve in this subpopulation.

The Role of Multimodality Imaging in the Diagnosis and Follow-Up of Malignant Primary Cardiac Tumors: Myxofibrosarcoma-A Case Report and Literature Review.

Cardiac tumors are a very rare but heterogenous group of diseases that may reveal themselves through a variety of nonspecific cardiac symptoms that may pose a challenge to the diagnostic process. Myxofibrosarcoma is a particularly rare type of cardiac tumor that carries a poor prognosis, thus making accurate and timely diagnosis essential. A 61-year-old woman presented with fatigue and shortness of breath during mild exercise, symptoms that have progressively worsened during the previous year. Multimodality imaging consisting of transthoracic and transesophageal echocardiography (TTE and TEE), cardiac magnetic resonance (CMR), cardiac computer tomography (CCT), and fluorodeoxyglucose positron emission computer tomography (18F-FDG PET-CT) was used for the diagnosis and postoperative follow-up of a myxofibrosarcoma.

Same Clinical Reality of Spontaneous Rupture of the Common Iliac Artery with Pseudoaneurysm Formation-Comparison of Two Therapeutical Solutions, Endovascular Stent-Graft and Open Surgical Correction, for Two Cases and Review of the Literature.

The incidence of isolated iliac artery aneurysms is approximately 2% and common iliac artery pseudoaneurysms are even rarer. A pseudoaneurysm is a localized hemorrhage as opposed to an actual aneurysm, which affects the entire vascular wall. They are typically asymptomatic and only detectable accidentally while looking for other causes. If large and symptomatic, they typically exhibit pressure symptoms as a result of the compression of the structures around them. Common symptoms include generalized stomach pain, urological problems, gastrointestinal bleeding, and neurological symptoms such as leg paralysis or sciatica-like back pain. Rarely, they may exhibit hemodynamic instability together with an aneurysm rupture, which has a high fatality rate. Due to the unique presentation, the diagnosis is typically rarely made and there is little experience with treating it. We report two cases of common iliac artery pseudoaneurysm found in two patients who had no notable medical history and who we chose to repair through the endovascular technique in the first case, an approach that has gained more ground for vascular repair worldwide, making it the current go-to method, and for the second case we chose a more traditional approach, through open surgery.

An unusual complication of myocardial infarction.

Despite medical and interventional advances, the mechanical complications of acute myocardial infarction are associated with high mortality. Timely surgical therapy requires a prompt and accurate diagnosis. Multimodality imaging has become the standard of care in modern cardiology. Despite the widespread use and cost-effectiveness of cardiac ultrasound in the acute setting, the method is highly user-dependent. In complex cases a second imaging technique is often required. The case presents the key role of multimodal imaging in the evaluation of a patient with a very rare complication of an acute myocardial infarction, a pseudoaneurysm of the interventricular septum respectively. In addition to confirming the diagnosis assumed by echocardiography, cardiac computed tomography provides additional structural and functional information essential to proper management.

Imaging Challenges in the Diagnosis of Anatomical Variations of the Supra-Aortic Vessels: A Case Report and Review of Literature.

A 73-year-old woman was referred to our Cardiology Department due to recurrent headaches and dizziness. She had a history of hypertension of 10 years. In the territorial hospital, left internal carotid artery significant stenosis was suspected. Neurological examination and laboratory tests were normal. A neck vascular ultrasound was performed, showing a low bifurcation of the left common carotid artery (CCA) and a hypoplastic left internal carotid artery (ICA) with a sinuous path at the cervical level. Therefore, a computed tomographic (CT) angiography examination of the head and neck vessels was performed. The images confirmed the presence of a hypoplastic left ICA, anatomic variation in the left CCA, and also showed that the left vertebral artery (VA) was stemming directly from the aortic arch, exhibiting a kinking trajectory.

Giant Sternal Chondrosarcoma in a 50-Year-Old Patient.

Chondrosarcomas represent approximately 20% of primary malignant bone cancers, being known as the most frequent neoplasia of the anterior thoracic wall. In our case, we present a case of a primary sternal chondrosarcoma in a 50-year-old female patient that has been polychemiotherapy and radiotherapy treated for breast cancer. Despite the initial treated malignancy of breast cancer in the personal pathologic history of the patient, it was discovered that the sternal tumor was not a metastatic disease from the breast neoplasm. After multiple investigations, the patient was successfully treated for the sternal chondrosarcoma after a radical sternal resection with a chest wall reconstruction completed with two titanium plates that were anchored on the ribs and with the placement of methyl methacrylate mesh.

Primary Pericardial Synovial Sarcoma: A Case Report and Literature Review.

We report a case of a 52-year-old woman who was referred to our institution with a superior vena cava syndrome and was investigated through echocardiography, CT and MRI revealing a well-defined, encapsulated pericardial mass. The pathology, correlated with the immunohistochemical analysis, concluded it was an extremely rare primary pericardial synovial sarcoma. The patient underwent surgery and chemotherapy with a 16-month disease-free survival and passed away after a contralateral aggressive relapse. Moreover, we discuss the role of each imaging modality together with their pericardial synovial sarcoma reported features.