Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown-Rahman syndrome.

Tatton-Brown-Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene. Typical TBRS clinical features are overgrowth, intellectual disability, and minor facial anomalies. However, since the syndrome was first described in 2014, a widening spectrum of abnormalities is being described.

The Impact of COVID-19 Infection on Patients with Severe Chronic Pulmonary Hypertension: A Prospective Study from a Single Referral Center.

COVID-19 infection has a significant burden on global morbidity and mortality, especially in elderly people and in patients with chronic respiratory and cardiovascular diseases, such as pulmonary hypertension (PH). We aimed to evaluate the impact of COVID-19 infection on patients diagnosed with severe chronic PH. A single-center prospective cohort study was performed.

Chest pain in the emergency department: From score to core-A prospective clinical study.

High-sensitivity troponin assay brought new challenges as we detect elevated concentration in many other diseases, and it became difficult to distinguish the real cause of this elevation. In this notion, diagnosis of acute coronary syndrome (ACS) remains a challenge in emergency department (ED). We aim to examine different approaches for rule-in and rule-out of ACS using risk scores, copeptin, and coronary computed tomography angiography (CCTA).

Insights to correlations and discrepancies between impaired lung function and heart failure in Eisenmenger patients.

Impaired lung function and spirometric signs of airway obstruction without common risk factors for chronic obstructive pulmonary disease could be found in patients with Eisenmenger syndrome. This study aimed to analyse the association between lung function parameters and disease severity (including heart failure markers, associated congenital heart defect) as well as the possible reasons for airflow obstruction in Eisenmenger syndrome. The data of 25 patients with Eisenmenger syndrome were retrospectively evaluated.

Prognostic value of Mastora obstruction score in acute pulmonary embolism.

Background: To evaluate the clinical significance of Mastora obstruction score in hemodynamically stable patients with acute pulmonary embolism (aPE).

Materials And Methods: One-hundred-and-six patients with newly diagnosed aPE, confirmed by computed tomography pulmonary angiography (CTPA), were included in the study and prospectively examined. aPE severity was assessed by using Mastora obstruction score.

Relationships between pulmonary function test parameters and quantitative computed tomography measurements of emphysema in subjects with chronic obstructive pulmonary disease.

Objective: CT is able to precisely define the pathological process in COPD. There are a number of previous articles discussing the distribution of emphysema and its connection with pulmonary function tests. However, the results obtained by the researchers are not identical.

Preoperative predictors of conversion in thoracoscopic surgery for pleural empyema.

Objectives: Thoracoscopy is an effective treatment method for pleural empyema; however, it is still not well defined as to which patient subgroups could benefit from it the most. The aim of the study was to identify preoperative factors that could facilitate selecting appropriate surgical intervention and to evaluate early postoperative period.

Methods: Seventy-one patients were prospectively included in the study, which was conducted from January 2011 to June 2014.

Relationship between radiologic patterns, pulmonary function values and bronchoalveolar lavage fluid cells in newly diagnosed sarcoidosis.

Background: The aim of the present study was to identify specious radiologic and/or physiologic prognostic marker(s), which lead to optimize of the patient follow-up frequency.

Methods: Eighty consecutive patients with newly diagnosed pulmonary sarcoidosis. Patients underwent chest radiography, high-resolution computed tomography (HRCT) examination, pulmonary function tests (PFT), bronchoscopy with bronchoalveolar lavage (BAL) and lung biopsy, and bronchoalveolar lavage fluid (BALF) cell examination.

Meandering pulmonary veins mimicking arteriovenous malformation.

We report a case of preoperative incidental finding in a 34-year-old man with a significant aortic insufficiency. Preoperative chest x-ray was suspicious for arteriovenous malformation in the right lung. Chest CT angiography discovered an anomalous course of the left superior pulmonary vein crossing the mediastinum to the contralateral hemithorax, joining the right superior pulmonary vein before entering the right inferior pulmonary vein and forming a common trunk of right inferior pulmonary vein.

Diagnostic methods, treatment modalities, and follow-up of extracranial arteriovenous malformations.

Objective: Arteriovenous malformations (AVMs) are an uncommon vascular pathology that remains challenging to accurately diagnose and successfully treat. This study introduces a novel way to evaluate AVM treatment outcomes using transarterial lung perfusion scintigraphy (TLPS) and reports our treatment results.

Material And Methods: The patients treated for extracranial AVMs were studied retrospectively.

Classic dissection of thoracic aorta complicated by ascending aortic intramural hematoma: promt diagnosis and successful endovascular repair.

We reported a case of 68-year-old man, with a previous history of hypertension. Patient was admitted to our institution for evaluation of a severe, constant, tearing anterior chest pain radiated to the neck with suspicion of acute aortic dissection. A multidetector computed tomography scan of thorax and abdomen demonstrated a dissection starting from the middle part of aortic arch and extending downward to the descending aorta till the middle part of the thoracic aorta.

Heart transplantation in an adult patient with isolated noncompaction of the left ventricular myocardium.

Isolated noncompaction of the ventricular myocardium is defined as a rare cardiomyopathy caused by intrauterine arrest of compaction of the myocardial fibers and meshwork, an important process in myocardial development, in absence of any coexisting congenital heart lesions. A lot of controversies exist about diagnostic criteria, nomenclature, origin, pathogenesis, and prognosis of this disease. Here, we describe an adult patient with isolated left ventricular noncompaction who presented with worsening congestive heart failure and was successfully treated with heart transplantation.

CT angiography of mildly symptomatic, isolated, unilateral right pulmonary vein atresia.

We report a mildly symptomatic 12-year-old boy with a very rare congenital anomaly-isolated unilateral pulmonary vein atresia. Diagnosis was made using CT angiography and its role in diagnosis is discussed.