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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. Cardiovascular abnormalities are less commonly reported but can be a major complication of the syndrome. This article describes a family of three individuals diagnosed with TBRS in adulthood and highlights the variable expression of cardiovascular features. A 34-year-old proband presented with progressive aortic dilatation, mitral valve (MV) regurgitation, left ventricular (LV) dilatation, and ventricular arrhythmias. The affected family members (mother and brother) were diagnosed with MV regurgitation, LV dilatation, and arrhythmias. Exome sequencing and computational protein analysis suggested that the novel familial DNMT3A mutation Ser775Tyr is located in the methyltransferase domain, however, distant from the active site or DNA-binding loops. Nevertheless, this bulky substitution may have a significant effect on DNMT3A protein structure, dynamics, and function. Analysis of peripheral blood cfDNA and transcriptome showed shortened mononucleosome fragments and altered gene expression in a number of genes related to cardiovascular health and of yet undescribed function, including several lncRNAs. This highlights the importance of epigenetic regulation by DNMT3A on cardiovascular system development and function. From the clinical perspective, we suggest that new patients diagnosed with congenital DNMT3A variants and TBRS require close examination and follow-up for aortic dilatation and valvular disease because these conditions can progress rapidly. Moreover, personalized treatments, based on the specific DNMT3A variants and the different pathways of their function loss, can be envisioned in the future.
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DNA (Citosina-5-)-Metiltransferases , DNA Metiltransferase 3A , Linhagem , Humanos , DNA Metiltransferase 3A/genética , Adulto , Masculino , DNA (Citosina-5-)-Metiltransferases/genética , Feminino , Cardiomiopatias/genética , Doenças da Aorta/genética , Sequenciamento do Exoma/métodos , Deficiência Intelectual/genética , MutaçãoRESUMO
Background and Objectives. 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. Materials and Methods. A single-center prospective cohort study was performed. Patients were enrolled from 1 November 2020 to 31 December 2022. Follow-up was until 31 December 2023. Data were collected on PH diagnosis, clinical presentation, outcomes, brain natriuretic peptide (BNP) levels, pulmonary function test with lung diffusion capacity for carbon monoxide (DLCO), and computed tomography pulmonary angiography (CTPA) analysis. Results. During the 26 months of our study, 51 PH patients were diagnosed with COVID-19 infection. The majority, 44 (86.3%) of all COVID-19 infected patients, were treated on an outpatient basis, and 7 (13.7%) required hospitalization. During the follow-up period, 8 (15.7%) patients died: 4 (7.8%) due to complications of COVID-19 infection, and the other 4 (7.8%) died in the later stages of the follow-up period after recovery from acute COVID-19 infection. Therefore, the in-hospital mortality in our study was 43% (n = 3). As mentioned above, the overall mortality was 7.8% (n = 4). Higher BNP levels in the third month after COVID-19 were associated with higher mortality rates (p = 0.028). Lung function, including DLCO, did not significantly worsen with COVID-19. In our study, 24 patients (47.1%) were referred for a follow-up CTPA scan and one of them developed typical fibrotic lung changes after COVID-19. Conclusions. The incidence of COVID-19 infection in patients diagnosed with PH was 34%. In our patients with severe chronic PH, the overall mortality rate due to COVID-19 infection was low. Pulmonary fibrosis was a rare complication in our cohort. COVID-19 infection in severe PH may increase the risk of worsening chronic heart failure.
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COVID-19 , Hipertensão Pulmonar , Humanos , COVID-19/complicações , COVID-19/mortalidade , COVID-19/fisiopatologia , Feminino , Masculino , Estudos Prospectivos , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar/fisiopatologia , Idoso , Pessoa de Meia-Idade , Doença Crônica , SARS-CoV-2 , Testes de Função Respiratória , Idoso de 80 Anos ou maisRESUMO
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). A prospective observational study was designed to evaluate chest pain patients. Consecutive adult patients admitted to the ED with a chief complaint of chest pain due to any cause were included. All patients were followed-up for 6 months after discharge for major adverse cardiovascular events and readmissions. Admission data, ED processes, and diagnoses were analyzed. One hundred forty-six patients were included, average age was 63 ± 13.4 years, and 95 (65.1%) were male. Global Registry of Acute Coronary Events (GRACE) and History, ECG, Age, Risk factors, Troponin (HEART) scores showed good prognostic abilities, but HEART combination with copeptin improves diagnoses of myocardial infarction (area under the curve [AUC] 0.764 vs AUC 0.864 P = .0008). Patients with elevated copeptin were older, had higher risk scores, and were more likely to be admitted to hospital and diagnosed with ACS in ED. For copeptin, AUC was 0.715 (95% confidence interval 0.629-0.803), and for combination with troponin, AUC of 0.770 (0.703-0.855) did not improve rule-in of myocardial infarction. High-sensitivity troponin I assay alongside prior stroke, history of carotid stenosis, dyslipidemia, use of diuretics, and electrocardiogram changes (left bundle branch block or ST depression) are good predictors of myocardial infarction (χ² = 52.29, AUC = 0.875 [0.813-0.937], P < .001). The regression analysis showed that combination of copeptin and CCTA without significant stenosis can be used for ACS rule-out (χ² = 26.36, P < .001, AUC = 0.772 [0.681-0.863], negative predictive value of 96.25%). For rule-in of ACS, practitioner should consider not only scores for risk stratification but carefully analyze medical history and nonspecific electrocardiogram changes and even with normal troponin results, we strongly suggest thorough evaluation in chest pain unit. For rule-out of ACS combination of copeptin and CCTA holds great potential.
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Síndrome Coronariana Aguda , Infarto do Miocárdio , Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/diagnóstico , Adulto , Idoso , Biomarcadores , Dor no Peito/diagnóstico , Dor no Peito/etiologia , Serviço Hospitalar de Emergência , Feminino , Glicopeptídeos , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Troponina IRESUMO
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. The patients were divided into groups according to airflow obstruction and a type of congenital heart defect. Airflow obstruction was found in nearly third (32%) of our cases and was associated with older age and worse survival. No relation was found between airway obstruction, B-type natriuretic peptide level, complexity of congenital heart defect and bronchial compression. Most of the patients (88%) had gas diffusion abnormalities. A weak negative correlation was noticed between gas diffusion (diffusing capacity of the lung for carbon monoxide) and B-type natriuretic peptide level (r = -0.437, p = 0.033). Increased residual volume was associated with higher mortality (p = 0.047 and p = 0.021, respectively). A link between B-type natriuretic peptide and lung diffusion, but not airway obstruction, was found. Further research and larger multicentre studies are needed to evaluate the importance of pulmonary function parameters and mechanisms of airflow obstruction in Eisenmenger syndrome.
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Background and objectives: Abdominal aortic aneurysm (AAA) growth is unpredictable after the endovascular aneurysm repair (EVAR). Continuing aortic wall degradation and weakening due to hypoxia may have a role in post-EVAR aneurysm sac growth. We aimed to assess the association of aortic wall density on computed tomography angiography (CTA) with aneurysm growth following EVAR. Materials and Methods: A total of 78 patients were included in the study. The control group consisted of 39 randomly assigned patients without aortic pathology. Post-EVAR aneurysm sac volumes on CTA were measured twice during the follow-up period to estimate aneurysm sac behavior. A maximum AAA sac diameter, aortic wall and lumen densities in Hounsfield units (HU) on CTA were measured. A relative aortic wall density (the ratio of aortic wall to lumen densities) was calculated. A statistical data analysis was performed using standard methods. Results: An increase in the AAA sac volume was observed in 12 (30.8%) cases. Median relative aortic wall density on CTA scores in both the patient and the control group at the level of the diaphragm were similar: 0.15 (interquartile range (IQR), 0.11-0.18) and 0.16 (IQR 0.11-0.18), p = 0.5378, respectively. The median (IQR) relative aortic wall density score at the level of the maximum AAA diameter in the patient group was lower than at the level below renal arteries in the control group: 0.10 (0.07-0.12) and 0.17 (0.12-0.23), p < 0.0001, respectively. The median (IQR) relative growing AAA sac wall density score was lower than a relative stable/shrinking AAA sac wall density score: 0.09 (0.06-0.10) and 0.11 (0.09-0.13), p = 0.0096, respectively. Conclusions: A lower aortic aneurysm wall density on CTA may be associated with AAA growth after EVAR.
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Aneurisma da Aorta Abdominal/cirurgia , Gravidade Específica , Procedimentos Cirúrgicos Vasculares/normas , Idoso , Aorta Abdominal/fisiopatologia , Aorta Abdominal/cirurgia , Aneurisma da Aorta Abdominal/fisiopatologia , Estudos de Coortes , Angiografia por Tomografia Computadorizada/métodos , Angiografia por Tomografia Computadorizada/estatística & dados numéricos , Procedimentos Endovasculares/métodos , Procedimentos Endovasculares/normas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Procedimentos Cirúrgicos Vasculares/métodos , Procedimentos Cirúrgicos Vasculares/estatística & dados numéricosRESUMO
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. According to the Mastora index, patients were divided into "non-massive" and "massive" groups. The patients' medical histories and blood laboratory data were collected, and instrumental tests were performed and analyzed. RESULTS: Eighty-two (77%) of the patients had "non-massive" aPE. Cough (48%), fever (44%), and pleural effusion (48%) occurred significantly more often in the "non-massive" PE group, while syncope (42%) and right ventricular dysfunction (86%) were more frequent in the "massive" PE group. The probability of the right ventricular dysfunction was significantly higher in the presence of increased pulmonary artery pressure (Cramer's V = 0.410; p < 0.0001) and respiratory failure (Cramer's V = 0.247; p = 0.032). Increased CRP level was found in the majority of the patients (90%). D-dimer level <500 µg/L (lower than the commonly recommended cut-off level) was found in 5% of cases. CONCLUSIONS: The clinical manifestation depends on the massiveness of aPE. Division of aPE cases into two groups suggests two possible subtypes of aPE: cardiovascular and respiratory. The "non-massive" aPE was associated with respiratory symptoms and an inflammatory response. The "massive" aPE is associated with an increased D-dimer level and leads to cardiovascular disorders. However, the "massive" aPE may be presented by normal D-dimer concentration level.
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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. Thoracoscopic surgery for Stage II/III pleural empyema was performed in all patients. Thoracoscopy failed in 18 (25.4%) patients, requiring conversion to thoracotomy. The preoperative factors that could possibly predict conversion were analysed. RESULTS: Obliterated pleural space (12 patients) and failure to achieve lung re-expansion (6 patients) were the main reasons for conversion. Multivariable logistic regression analysis demonstrated that each day of illness [odds ratio 1.1 (95% confidence interval 1.0-1.2], P = 0.004] and frank pus [odds ratio 4.4 (95% confidence interval 1.2-15.3), P = 0.021] were independent predictors of conversion. Using receiver-operating characteristic analysis, it was determined that the duration of illness had a high predictive value for conversion [area under the curve 0.8 (95% confidence interval 0.7-0.9), P < 0.001]. The cut-off value for duration of illness was 16 days (sensitivity 94.4%, specificity 54.7%). The conversion group had a significantly greater need for postoperative intensive care unit stay ( P = 0.022) but a lower rate of reoperations ( P = 0.105). CONCLUSIONS: Duration of illness and frank pus discovered during thoracocentesis can help in selecting the patient for appropriate intervention. Earlier surgery for pleural empyema can reduce the rate of conversion and reoperation.
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Conversão para Cirurgia Aberta/métodos , Empiema Pleural/cirurgia , Cavidade Pleural/cirurgia , Complicações Pós-Operatórias/epidemiologia , Toracoscopia/métodos , Doença Crônica , Drenagem/métodos , Empiema Pleural/diagnóstico , Feminino , Humanos , Lituânia/epidemiologia , Masculino , Pessoa de Meia-Idade , Morbidade/tendências , Período Pós-Operatório , Período Pré-Operatório , Prognóstico , Estudos Prospectivos , Taxa de Sobrevida/tendências , Resultado do TratamentoRESUMO
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. RESULTS: The reduction in PFT values seen in radiological sarcoidosis stage III was greater than that seen in stages I and II. The percentage of neutrophils in the lungs was found to increase in stages II and III. PFT indices were correlated negatively with the consolidation and ground glass opacities CT scores, but not with the micronodule or macronodule scores. The rise in the percentage of BALF lymphocytes was associated with the restriction pattern of PFT. The diagnostic value of BALF for sarcoidosis was higher when the typical radiologic patterns of stage I disease were found and that smoking decreased the diagnostic value of CD4/CD8 ratio. CONCLUSIONS: This study supports the opinion that the staging of the pulmonary sarcoidosis with chest X-rays is still valuable from the prognostic point of view, because significant correlations between the radiologic stages of sarcoidosis and PFT parameters were found. Chest HRCT was significantly superior to chest X-ray in detecting mediastinal and pulmonary parenchymal changes. However, the prognostic role of HRCT needs to be better investigated evaluating serial examinations. Only consolidation and ground glass scores (neither of which are frequently found in sarcoidosis) hold prognostic value, since these were negatively correlated with PFT parameters.
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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. PURPOSE: To assess relationships between emphysema and pulmonary function test parameters in COPD patients. MATERIALS AND METHODS: Fifty-nine patients diagnosed to have COPD underwent chest CT examinations and pulmonary function tests.For the quantitative assessment, percentages of low attenuation volume LAV 950 HU (%) of a both lungs, the right lung, the left lung, and each lobe were obtained. Quantitative CT measurements were compared with forced expiratory volume in 1 s (FEV1), the ratio of FEV1 to forced vital capacity (FEV1/FVC), the diffusing capacity for carbon monoxide (DLco) and total lung capacity (TLC). RESULTS: Except for the right middle lobe and the right upper lobe, respectively, all the quantitative CT measurements showed weak to moderate negative correlations with diffusing capacity (DLco) (r = -0.35 to -0.61, p < 0.05) and weak positive correlations with TLC (r = 0.34 to 0.44, p < 0.05). Group analysis indicated that LAV-950 HU (%) values of both lungs, right lung, left lung, and each lobe, except for right middle lobe, were increased in patients with GOLD stages 3 and 4 of COPD compared to GOLD stages 1 and 2 (p < 0.05). CONCLUSION: CT measurements of emphysema are significantly related to pulmonary function tests results, particularly DLco.
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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.
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Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/cirurgia , Malformações Arteriovenosas/diagnóstico por imagem , Achados Incidentais , Veias Pulmonares/anormalidades , Adulto , Angiografia/métodos , Diagnóstico Diferencial , Humanos , Masculino , Cuidados Pré-Operatórios/métodos , Veias Pulmonares/diagnóstico por imagem , Radiografia Torácica/métodos , Tomografia Computadorizada por Raios X/métodosRESUMO
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. Diagnosis and outcomes were based on clinical data, ultrasonography, magnetic resonance imaging, computed tomography, angiography, and TLPS studies. The influence of gender; location, form, and stage of AVMs; first attempt at treatment; and treatment modalities was analyzed. Outcomes were defined as positive (cure, improvement, and remission) or negative (no remission and aggravation). RESULTS: Of the 324 patients with congenital vascular malformations, 129 (39.8%) presented with AVMs, and the data of 56 treated patients with AVMs were analyzed. Of the 29 patients in the endovascularly treated group, 15 in the surgically treated group, and 12 in the combined treatment group, 24 (82.8%), 14 (93.3%), and 10 patients (83.3%), respectively, had positive outcomes (P>0.05). All outcomes were positive in surgically treated patients with extratruncular limited AVMs, and these patients were more likely to be cured as compared with those who had other forms of AVMs (OR, 5.8; 95% CI, 1.1-29; P=0.02). The patients with more advanced AVMs (stages III and IV) and with AVMs in the gluteal and pelvic region were more likely to have the worst outcomes than those with stage II AVMs (OR, 8.2; 95% CI, 1-72; P=0.03) and with AVMS in other locations (OR, 5.8; 95% CI, 1.1-29; P=0.02), respectively. Gender and age did not significantly influence treatment results (P>0.05). The TLPS data of 17 patients showed AV shunting ranging from 0% to 92%, which combined with other results helped identify 9 patients who needed further interventions, 6 who were treated successfully, and 2 who had insignificant shunting. CONCLUSIONS: The best outcomes were achieved in surgically treated patients with localized lesions and less advanced AVMs. For the first time in Lithuania, a modified TLPS method has been introduced that enhances a hemodynamic assessment of AV shunting and provides with a more accurate evaluation of AVMs to better serve in planning future treatments.
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Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/terapia , Adolescente , Adulto , Nádegas/anormalidades , Nádegas/irrigação sanguínea , Criança , Pré-Escolar , Feminino , Cabeça/anormalidades , Cabeça/irrigação sanguínea , Humanos , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pescoço/anormalidades , Pescoço/irrigação sanguínea , Pelve/anormalidades , Pelve/irrigação sanguínea , Extremidade Superior/irrigação sanguínea , Deformidades Congênitas das Extremidades Superiores/diagnóstico , Adulto JovemRESUMO
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. The dissection was classified as Stanford A, De Bakey I. Surgical treatment of patient was started with bypass graft from the right common carotid artery to the left common carotid with subsequent revascularization of left subclavian artery. Lower parts of above-mentioned arteries were ligated. At the second stage an emergent prosthetic stent-graft was placed distally from the truncus brachiocephalicus up to the proximal part of the descending aorta. We reported a case report to present diagnostic and possible interventional treatment for patient with acute aortic type A dissection.
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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.
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Transplante de Coração , Miocárdio Ventricular não Compactado Isolado , Adulto , Cardiomiopatia Hipertrófica/diagnóstico , Ecocardiografia , Eletrocardiografia , Seguimentos , Humanos , Miocárdio Ventricular não Compactado Isolado/diagnóstico , Miocárdio Ventricular não Compactado Isolado/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Radiografia Torácica , Volume Sistólico , Fatores de Tempo , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Ultrassonografia Doppler em CoresRESUMO
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.