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BACKGROUND: Congenital Heart Disease stands as a prominent cause of infant mortality, with notable disparities in surgical outcomes evident between high-income and low- to middle-income countries. OBJECTIVE: This study presents a collaborative partnership between a local governmental entity and an international private organization to establish a high-quality Pediatric Cardiac Surgery Program in a post-conflict limited resource country, Iraq. METHODS: A descriptive retrospective study analyzed pediatric cardiac surgery procedures performed by a visiting pediatric heart surgery team from October 2021 to October 2022, funded by the Ministry of Health (MOH). We used the STS-EACTS complexity scoring model (STAT) to assess mortality risks associated with surgical procedures. RESULTS: A total of 144 patients underwent 148 procedures. Infants comprised 58.3% of the patients. The most common anomalies included tetralogy of Fallot, ventricular septal defect, and various single ventricle categories, constituting 76% of the patient cohort. The overall surgical mortality rate was 4.1%, with an observed/expected surgical mortality rate of 1.1 (95% CI 0.5, 2.3). There was no significant difference between our observed surgical mortality in Category 2, 3, and 4 and those expected/reported by the STS-EACTS Database (p = 0.07, p = 0.72, and p = 0.12, respectively). The expenses incurred by the MOH for conducting surgeries in Iraq were lower than the alternative of sending patients abroad for the same procedures. CONCLUSION: The partnership model between a local public entity committed to infrastructure development and funding and an international private organization delivering clinical and training services can provide the foundation for building sustainable, high-quality in situ programs in upper-middle-income countries.
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NT-proBNP is a peptide related to brain natriuretic peptide, a cardiac biomarker and a member of the natriuretic family of peptides. NT-proBNP has demonstrated its clinical utility in the assessment of a wide spectrum of cardiac manifestations. It is also considered a more precise diagnostic and prognostic cardiac biomarker than brain natriuretic peptide. With the appearance of the Severe Acute Respiratory Syndrome Coronavirus 2 virus and the subsequent COVID-19 pandemic, diagnosis of heart implications began to pose an increasing struggle for the physician. Echocardiography is considered a central means of evaluating cardiac disorders like heart failure, and it is considered a reliable method. However, other diagnostic methods are currently being explored, one of which involves the assessment of NT-proBNP levels. In the literature that involves the adult population, significant positive correlations were drawn between the levels of NT-proBNP and COVID-19 outcomes such as high severity and fatality. In the paediatric population, however, the literature is scarce, and most of the investigations assess NT-proBNP in the context of Multiple Inflammatory Syndrome in Children, where studies have shown that cohorts with this syndrome had elevated levels of NT-proBNP when compared to non-syndromic cohorts. Thus, more large-scale studies on existing COVID-19 data should be carried out in the paediatric population to further understand the prognostic and diagnostic roles of NT-proBNP.
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Due to the deleterious global impact of the COVID-19 pandemic, tremendous effort has been invested in the development of vaccines against the virus. Vaccine candidates are first tested in adult populations, a number of which have been approved for EUL by the WHO, and are in use across the USA and MENA region. The question remains whether these (or other) vaccines should be recommended to a neonatal, pediatric, and/or adolescent cohort. Incidence and severity of COVID-19 infection are low in pediatric, neonatal, and adolescent patients. Since both overall incidence and severity are lower in children than in adults, safety is an important consideration in vaccine approval for these age groups, in addition to efficacy and a decreased risk of transmission. The following review discusses vaccine immunology in children aged 0-18 years, with emphasis on the negative impact of the COVID-19 pandemic on the lives of children, considerations for pediatric vaccine approval, and available vaccines for pediatric cohorts along with a breakdown of the efficacy, advantages, and disadvantages for each. This review also contains current and future perspectives, as well as a section on the cardiovascular implications and related dynamics of pediatric COVID-19 vaccination.
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INTRODUCTION: Congenital heart diseases (CHDs) are one of the most common birth defects worldwide with a prevalence of 1%. CHDs can be classified into cyanotic and acyanotic diseases based on the presence or absence of the characteristic bluish discoloration of skin and mucus membranes. A subset of cyanotic diseases is single ventricle malformations. This group of disorders comprises 1% of all CHDs. A remarkable yet rare and underreported entity of single ventricle malformations is combined tricuspid atresia (TA) and atrioventricular (AV) septal defect which is characterized by the anatomical features of both entities. Combined TA-AV septal malformation was first anatomically described in 1953 and further explored through echocardiography and cardiac catheterization in 1987 and then 1991. Since then, no studies have been documented in the literature prompting us to share our findings. METHODS: Herein we are describing a rare and underreported cardiac lesion based of a retrospective revision of medical charts at the American University of Beirut Medical Center (AUBMC) Children's Heart Center, a tertiary medical center in the Middle East RESULTS: Out of 200 cases with confirmed single ventricle physiology, we identified a few patients with characteristics of combined TA-AV septal defect. Our patients exhibited characteristic echocardiographic findings of primum ASD, VSD, atretic RAVV, and clefted LAVV. CONCLUSION: In short, TA-AV septal defect is a rare, underreported congenital malformation. Tracking our patients' clinical profiles will help improve our understanding of the prognosis of this entity. Our findings may also improve treatment modalities since replacing the left-sided valve is often overlooked if the defect is inaccurately diagnosed. In addition, such findings can help shed light on the embryological development of the rarely encountered variation of AV septal malformation.
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With the rapid expansion of the COVID-19 pandemic, the disease burden and its consequences on the paediatric population has been progressively recognised. Although COVID-19 infection in children presents as asymptomatic to mild illness, instances of hyperinflammation and multi-organ involvement following the viral infection have been described. This condition, known as the multisystem inflammatory syndrome in children (MIS-C), has gained a wide global attention. Despite the global efforts to uncover the disease characteristics and management, a clear pathogenesis and a unified treatment regimen have not been reached yet. This paper tackles the epidemiology of the MIS-C, discusses its suggested pathogenesis, drives through its varying clinical presentations, and evaluates the different treatment regimens employed in managing MIS-C.
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COVID-19 , Enfermedades del Tejido Conjuntivo , Niño , Humanos , Pandemias , Síndrome de Respuesta Inflamatoria Sistémica/diagnóstico , Síndrome de Respuesta Inflamatoria Sistémica/epidemiologíaRESUMEN
Congenital heart disease (CHD) is the most prevalent congenital defect in newborn infants. Due to the various types of heart abnormalities, CHD can have a wide range of symptoms. Cardiac lesions comprise a range of different types and accordingly varying severities. It is highly helpful to classify CHD into cyanotic and acyanotic heart diseases. In this review, we are investigating the course of Coronavirus disease 2019 (COVID-19) in cyanotic CHD patients. The infection may directly or indirectly affect the heart by affecting the respiratory system and other organs. The effect on the heart that is pressure- or volume-overloaded in the context of CHD is theoretically more severe. Patients with CHD are at a higher risk of mortality from COVID-19 infection or suffering worse complications. While the anatomic complexity of CHD does not seem to predict the severity of infection, patients with worse physiological stages are more susceptible such as cyanosis and pulmonary hypertension. Patients with CHD exhibit continuous hypoxemia and have lower oxygen saturations because of a right-to-left shunt. Such individuals run the danger of rapidly deteriorating in the event of respiratory tract infections with inadequate oxygenation. Additionally, these patients have a higher risk of paradoxical embolism. Hence, critical care should be given to cyanotic heart disease patients with COVID-19 in comparison to acyanotic patients and this is through proper management, close observation, and adequate medical therapy.
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INTRODUCTION: QT interval represents the ventricular depolarization and repolarization. Its accurate measurement is critical since prolonged QT can lead to sudden cardiac death. QT is affected by heart rate and is corrected to QTc via several formulae. QTc is commonly calculated on the ECG and not the 24-h Holter. METHODS: 100 patients presenting to our institution were evaluated by an ECG followed by a 24-h Holter. QTc measurement on both platforms using Bazett and Fridericia formulae was recorded and compared. RESULTS: Mean age was 14.09 years, with the majority being males. Mean heart rate was 125.87. In the ECG, the mean QTc interval via the Bazett formula was 0.40 s compared with 0.38 s using the Fridericia formula. The mean corrected QT via the Bazett formula was 0.45, 0.39, and 0.42 s for the shortest RR, the longest RR, and the average RR, respectively. In contrast to the Fridericia formula, the corrected QT interval was 0.40, 0.39, and 0.40 s for the shortest RR, the longest RR, and the average RR, respectively. Using the Bazett formula, the highest specificity was reached during the longest RR interval (92.2%), while the highest sensitivity was recorded during the shortest RR interval (40%). As for the Fridericiaformula, sensitivity always reached 0%, while the highest specificity was reached during the average RR interval. CONCLUSION: QTc measured during Holter ECG reached a high specificity regardless of RR interval using the Fridericia and during the longest and the average RR interval for the Bazett formula. The consistently low sensitivity reveals that Holter ECG should not be used to rule out prolonged QT.
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Electrocardiografía Ambulatoria , Síndrome de QT Prolongado , Adolescente , Electrocardiografía , Frecuencia Cardíaca , Humanos , MasculinoRESUMEN
The aim of this study was to test the feasibility of measuring right ventricular (RV) volumes, ejection fraction (EF), and systolic function indices in neonates using three-dimensional speckle-tracking echocardiography (3D-STE). Thirty-eight neonates underwent complete echocardiographic evaluation, including the acquisition of three full-volume 3D datasets or more from each of the apical, parasternal, and subcostal windows while naturally sleeping. Datasets were analyzed using a commercially available software (Tomtec). Global RV 3D volumes and EF were measured. In addition, 2D free wall longitudinal strain (LS), tricuspid valve annulus (TVA), tricuspid annular plane systolic excursion (TAPSE) and its index to RV length (TAPSEi), and fractional area change (FAC) were obtained from a non-shortened apical 4-chamber view of the RV, derived from the 3D dataset. Three or more datasets obtained from the apical window were available for analysis for each subject. At least one dataset was adequate for analysis in all subjects. Mean indexed 3D diastolic, systolic, stroke volumes, and EF were measured at 28.5 ± 3.4 ml/m2, 13 ± 2.0 ml/m2, 15.6 ± 1.9 ml/m2, and 54.6 ± 3.2%, respectively. Free wall 2D LS was calculated at (- 27.9 ± 2.5%). In addition, mean TVA measured 11.1 ± 0.8 mm, TAPSE measured 6.8 ± 0.9 mm, and TAPSEi and FAC were calculated at 24.2 ± 2.1 and 46 ± 3.4%, respectively. 3D-STE is feasible in normal neonates without the need for sedation. Reference values of RV 3D volumes and 2D indices of systolic function were obtained. These data could be helpful in patients where the size or systolic function of the RV is in question. Larger studies are required to establish nomograms for the above indices in this age group.
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Ecocardiografía Tridimensional , Disfunción Ventricular Derecha , Ecocardiografía , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Recién Nacido , Volumen Sistólico , Función Ventricular DerechaRESUMEN
We herein report on a series of four patients presented to our tertiary care centre with features of multisystem inflammatory syndrome in children and cardiac involvement. Two of our patients had recent exposure to a COVID-19-positive patient, one had recent documented infection, and another had no known positive contact. All the patients were tested positive for severe acute respiratory syndrome coronavirus 2 immunoglobulin G antibody at the time of presentation. All of them fulfilled the diagnostic criteria according to the World Health Organization Centers for Disease Control or the British guidelines for MIS-C (fever for ≥3 days, multisystem involvement (at least two), elevated markers of inflammation, and no other alternative diagnosis).Cardiac involvement was variable ranging from isolated ectasia of the coronary arteries to full-blown pancarditis such as severe biventricular dysfunction, multi-valvar involvement, and pericardial effusion.All our patients received intravenous immunoglobulin (2 g/kg), methylprednisolone, and aspirin and some required inotropic support and ICU admission.Remarkably, all our patients showed significant improvement in their cardiac disease within a few days as evident on serial echocardiographic evaluation. However, we stress the need for long-term follow-up as one of our patients demonstrated mild LV myocardial scarring as evident by gadolinium late enhancement on a cardiac MRI.
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COVID-19 , Derrame Pericárdico , COVID-19/complicaciones , Niño , Humanos , Pandemias , SARS-CoV-2 , Síndrome de Respuesta Inflamatoria SistémicaRESUMEN
BACKGROUND: Chylothorax is the accumulation of chyle fluid in the pleural space. The incidence of chylothorax is quite common post-cardiac surgeries in pediatrics especially in Fontan procedures. Although several treatment lines are known for the management of chylothorax, steroids were scarcely reported as a treatment option. We present a unique case of a 4-year-old child who underwent Fontan procedure and suffered a long-term consequence of chylothorax. The chylothorax only fully resolved after introducing corticosteroids as part of her management. METHODS: A literature review about management of chylothorax post-cardiac surgery in children using Ovid Medline (19462021), PubMed, and google scholar was performed. CONCLUSION: Conservative management without additional surgical intervention is adequate in most patients. Additionally, somatostatin can be used with variable success rate. However, a few cases mentioned using steroids in such cases. More research and reporting on the use of steroids in the treatment of chylothorax post-cardiac surgeries in children is needed to prove its effectivity. In this article, we describe a case of chylothorax post-Fontan procedure that supports the use of steroids.
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BACKGROUND: Equal to COVID-19 patients, non-COVID-19 patients are affected by the medical and social drawbacks of the COVID-19 pandemic. A significant reduction in elective life-changing surgeries has been witnessed in almost all affected countries. This study discusses an applicable and effective pre-operative assessment protocol that can be applied during the COVID-19 era. METHODS: Our study is a descriptive retrospective observational study that involves children with CHD requiring open-heart surgeries at our tertiary care centre between March and November, 2020. We reviewed the charts of eligible patients aged 18 years and below. We identified the total numbers of scheduled, performed, and postponed surgeries, respectively. A thorough description of the clinical and physical presentation of the postponed cases, who tested positive for SARS-CoV-2, is provided. RESULTS: Sixty-eight open-heart surgeries were scheduled at our centre between March and November, 2020. Three surgeries (4%) were postponed due to COVID-19. The three patients were asymptomatic COVID-19 cases detected on routine SARS-CoV-2 polymerase chain reaction testing. No symptoms of cough, chest pain, dyspnea, rhinorrhea, diarrhea, abdominal pain, anosmia, and ageusia were reported by our patients. All patients were afebrile and hemodynamically stable. Owing to the pre-operative assessment protocol that was implemented after the first case was detected, only three healthcare workers were at risk of COVID-19 transmission and were imposed to infectious evaluation and home quarantine. CONCLUSIONS: Adopting our discussed preoperative COVID-19 assessment protocol for CHD patients is an effective method to detect COVID-19 infections, optimise patient care, and ensure healthcare workers' safety.
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COVID-19 , Cardiopatías Congénitas , COVID-19/epidemiología , Niño , Cardiopatías Congénitas/cirugía , Humanos , Pandemias/prevención & control , Cuarentena , SARS-CoV-2RESUMEN
BACKGROUND: Aortic valve stenosis accounts for 3-6% of congenital heart disease. Balloon aortic valvuloplasty (BAV) is the preferred therapeutic intervention in many centers. However, most of the reported data are from developed countries. MATERIALS AND METHODS: We performed a retrospective single-center study involving consecutive eligible neonates and infants with congenital aortic stenosis admitted for percutaneous BAV between January 2005 and January 2016 to our tertiary center. We evaluated the short- and mid-term outcomes associated with the use of BAV as a treatment for congenital aortic stenosis (CAS) at a tertiary center in a developing country. Similarly, we compared these outcomes to those reported in developed countries. RESULTS: During the study period, a total of thirty patients, newborns (n = 15) and infants/children (n = 15), underwent BAV. Left ventricular systolic dysfunction was present in 56% of the patients. Isolated AS was present in 19 patients (63%). Associated anomalies were present in 11 patients (37%): seven (21%) had coarctation of the aorta, two (6%) had restrictive ventricular septal defects, one had mild Ebstein anomaly, one had Shone's syndrome, and one had cleft mitral valve. BAV was not associated with perioperative or immediate postoperative mortality. Immediately following the valvuloplasty, a more than mild aortic regurgitation was noted only in two patients (7%). A none-to-mild aortic regurgitation was noted in the remaining 93%. One patient died three months after the procedure. At a mean follow-up of 7 years, twenty patients (69%) had more than mild aortic regurgitation, and four patients (13%) required surgical intervention. Kaplan-Meier freedom from aortic valve reintervention was 97% at 1 year and 87% at 10 years of follow-up. CONCLUSION: Based on outcomes encountered at a tertiary center in a developing country, BAV is an effective and safe modality associated with low complication rates comparable to those reported in developed countries.
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Estenosis de la Válvula Aórtica , Válvula Aórtica/cirugía , Valvuloplastia con Balón , Estenosis de la Válvula Aórtica/congénito , Estenosis de la Válvula Aórtica/epidemiología , Estenosis de la Válvula Aórtica/cirugía , Valvuloplastia con Balón/efectos adversos , Valvuloplastia con Balón/métodos , Femenino , Humanos , Lactante , Recién Nacido , Líbano/epidemiología , Masculino , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Three-dimensional echocardiography is being used to evaluate left ventricular dimensions and ejection fraction in clinical practice. The validity and normal values have been established in a large group of normal adults, children and neonates. The aim of this study was to compare left ventricular dimensions and ejection fraction obtained from the same 3-dimensional echocardiography datasets using 2 commercially available applications: Philips QLAB and Tomtec 4D LEFT VENTRICLE-ANALYSIS. Fifty consecutive newborns or neonates coming to their first newborn visit within the first 3 weeks of live, were recruited. 38 babies underwent full Echocardiographic evaluation, including the acquisition of several 3-dimensional datasets, while naturally sleeping. Left ventricular dimensions, volumes and ejection fraction were measured using Philips QLAB version 9.0 and results were compared to results of the same datasets, analysed using TomTec 4D LV software. Mean left ventricular diastolic, and systolic volumes indexed to body surface area and ejection fraction were: 24.7 ± 3.6 ml/m2, 9.2 ± 1.3 ml/m2 and 62 ± 3.8% using TomTec and 26.6 ± 3.8 ml/m2, 10.4 ± 2 ml/m2 and 63 ± 3.1% using QLAB, respectively. Mean indexed left ventricular diastolic, and systolic volumes measured with QLAB were significantly higher as compared to TomTec with insignificant difference in the ejection fraction. Normal left ventricular indices obtained from 3-dimensional echocardiography datasets were established, using Philips QLAB and TomTec 4D LV ANALYSIS software. Measurements obtained were significantly different between those venders, and hence, may not be used interchangeably.
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Ecocardiografía Tridimensional/normas , Ventrículos Cardíacos/diagnóstico por imagen , Volumen Sistólico/fisiología , Ecocardiografía Tridimensional/métodos , Femenino , Humanos , Recién Nacido , Masculino , Valores de Referencia , Reproducibilidad de los Resultados , Programas Informáticos/normasRESUMEN
The influx of Syrian refugees to Lebanon that began in 2012 created new health-care and financial stressors on the country with an increase in communicable and non-communicable diseases. This study aims to describe the presentations, diagnoses, management, financial burden, and outcomes among Syrian refugees with congenital heart disease (CHD) in Lebanon. This is a retrospective study that was conducted through reviewing the charts of all Syrian pediatric patients referred to the Children's Heart Center at the American University of Beirut Medical Center for evaluation between the years 2012 and 2017. We reviewed the charts of 439 patients. The mean age at presentation was 3.97 years, and 205 patients (46.7%) were females. 99 Patients (22.6%) were found to have no heart disease, 69 (15.7%) had simple, 146 (33.3%) had moderate, and 125 (28.5%) had complex heart diseases. 176 (40.1%) Patients underwent interventional procedures, with a surgical mortality rate of 10.1%, compared to a rate of 2.9% among non-Syrian children. The average cost per surgical procedure was $15,160. CHD poses a significant health and financial burden on the Syrian refugee population in Lebanon, a small country with very limited resources. The Syrian cohort had a higher frequency of complex cardiac lesions, presented late with additional comorbidities, and had a strikingly elevated surgical mortality rate. Securing appropriate funds can improve the lives of this population, ease the financial burden on the hosting country, provide adequate health-care services, and improve morbidity and mortality.
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Procedimientos Quirúrgicos Cardíacos/métodos , Cardiopatías Congénitas/epidemiología , Refugiados/estadística & datos numéricos , Procedimientos Quirúrgicos Cardíacos/economía , Procedimientos Quirúrgicos Cardíacos/mortalidad , Niño , Preescolar , Femenino , Humanos , Lactante , Líbano/epidemiología , Masculino , Estudios Retrospectivos , Siria/etnología , Centros de Atención Terciaria/estadística & datos numéricosRESUMEN
BACKGROUND: SARS-CoV-2 is a new strain of the coronavirus family that emerged by the end of 2019 and led to the unpreceded COVID-19 pandemic. The virus affects multiple organs simultaneously and leads to a high rate of morbidity and mortality in all age groups. The cardiovascular system is one of the major affected organ systems. Various mechanisms including direct myocardial injury contribute to the cardiac manifestations of COVID-19 patients. METHODS: We performed a comprehensive and updated search on the cardiac manifestations of COVID-19. Our search included laboratory and imaging evaluations. In addition, we added a unique section on the effect of SARS-CoV-2 on the cardiovascular system in the pediatric population. RESULTS: COVID-19 might have an effect on the cardiovascular system at various levels leading to myocardial ischemia, arrhythmia, heart failure, myocarditis, and multisystem inflammatory syndrome in children. The incidence of cardiovascular complications varies among patients. This paper also provides a comprehensive summary of all the reported pediatric cases with cardiac manifestations. CONCLUSION: Multidisciplinary teams are crucial for adequate management of patients with COVID-19 regardless of age. Timely diagnosis is critical in reducing mortality.
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BACKGROUND: Congenital left atrial wall aneurysms are rare abnormalities that arise from a developmental weakness in the muscular wall. It may be misdiagnosed or go undetected and the delay in diagnosis can lead to catastrophic consequences. CASE PRESENTATION: An updated and comprehensive review of the literature was performed for all patients with this abnormality under the age of 18. A total of 15 cases including ours are presented in this article. We present a 10-month-old boy who was referred to our center for cardiomegaly. Workup revealed a large atrial wall aneurysm that was successfully corrected with surgery. CONCLUSION: Historically, left atrial aneurysms were uncommon in the absence of valvular heart disease or other cardiac conditions. Congenital aneurysms are rare phenomenon because they arise without an acquired cardiac disease and surgical correction is crucial for survival.
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Apéndice Atrial , Aneurisma Cardíaco , Enfermedades de las Válvulas Cardíacas , Aneurisma Cardíaco/diagnóstico por imagen , Aneurisma Cardíaco/cirugía , Atrios Cardíacos/diagnóstico por imagen , Humanos , Lactante , Masculino , Derivación y ConsultaRESUMEN
INTRODUCTION: Port-a-Cath or chemoport provides prolonged central venous access for cancer patients requiring prolonged chemotherapy. Prolonged use of chemoport is associated with many complications. Dislodgement and migration of chemoport catheter is a rare and reportable complication with potentially serious consequences. METHODS: The medical charts of 1222 paediatric cancer patients admitted to the Children's Cancer Center in Lebanon who had chemoports inserted for long-term chemotherapy were retrospectively reviewed. Descriptive analysis of data was conducted. RESULTS: Chemoport fracture and migration were found in seven cases with an incidence of 0.57%. The duration of chemoport use before the event of dislodgement varied from 2 months to 102 months. Non-functioning chemoport was the most common presentation. Totally, six cases were managed successfully by loop snaring, three cases by paediatric cardiology team, and three cases by interventional radiology team. One case was managed surgically during chemoport removal. CONCLUSION: Fracture and migration of chemoport catheter is a rare complication of uncertain aetiology and with potentially serious consequences. Percutaneous retrieval, done by experienced cardiologist or interventional radiologist, is the first choice for management of this complication as it is considered as a safe and effective approach.
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Cateterismo Venoso Central , Neoplasias , Dispositivos de Acceso Vascular , Cateterismo Venoso Central/efectos adversos , Niño , Humanos , Incidencia , Líbano/epidemiología , Neoplasias/tratamiento farmacológico , Neoplasias/epidemiología , Estudios Retrospectivos , Centros de Atención TerciariaRESUMEN
Bacterial pericarditis is a critical diagnosis caused by a wide range of organisms including Streptococcus pneumoniae and other anaerobic organisms like Cutibacterium acnes which has been gaining more importance as a causative organism. Cutibacterium species are Gram-positive microaerophilic rods that constitute part of the normal flora of skin and mucosal membranes. The incidence of pericarditis caused by this organism is underreported as it is often dismissed as a skin flora contaminant. However, if left untreated, Cutibacterium acnes can cause pericarditis with serious complications. In this paper, we present a comprehensive review of the literature regarding pericarditis caused by Cutibacterium acnes along with a case presentation from our institution. In our institution, a 20-year-old man with history of atrial septal defect presented with chest pain radiating to the back along with symptoms of upper respiratory tract infection including headaches and myalgia. Electrocardiogram was remarkable for diffuse low-voltage waves. Echocardiography revealed a large pericardial effusion with tamponade features. Pericardiocentesis drained 1.2 L of milky fluid. Pericardial fluid analysis grew Cutibacterium acnes after being cultured for 8 days. The patient received 3 weeks of IV penicillin followed by 3 weeks of oral amoxicillin along with nonsteroidal anti-inflammatory agents and colchicine with no recurrence. Pericarditis caused by Cutibacterium acnes requires a high clinical suspicion since isolation of this organism can be dismissed as a skin flora contaminant. Literature review reveals that this infection may be underdiagnosed and underreported. Prompt diagnosis may lead to timely initiation of antibiotics which can help prevent devastating complications like constrictive pericarditis. Prospective studies are needed to evaluate the true incidence and prevalence of this disease.
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BACKGROUND: Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools and is characterized by the proliferation of capillaries into the alveolar septae. Mutations in the gene encoding the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) have recently been linked to this particular subgroup of PH. METHODS: In our effort to unveil the genetic basis of idiopathic and familial cases of PH in Lebanon, we have used whole exome sequencing to document known and/or novel mutations in genes that could explain the underlying phenotype. RESULTS: We showed bi-allelic mutations in EIF2AK4 in two non-consanguineous families: a novel non-sense mutation c.1672C > T (p.Q558*) and a previously documented deletion c.560_564drlAAGAA (p.K187Rfs9*). Our histological analysis coupled with the CT-scan results showed that the two patients with the p.Q558* mutation have PH. In contrast, only one of the individuals harboring the p.K187Rfs9* variant has a documented PCH while his older brother remains asymtomatic. Differential analysis of the variants in the genes of the neighboring network of EIF2AK4 between the two siblings identified a couple of interesting missense mutations that could account for this discrepancy. CONCLUSION: These findings represent a novel documentation of the involvement of EIF2AK4 in the different aspects of pulmonary hypertension. The absence of a molecular mechanism that relates the abrogated function of the protein to the phenotype is still a major hurdle in our understanding of the disease.
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Capilares/patología , Hemangioma/genética , Hipertensión Pulmonar/genética , Pulmón/irrigación sanguínea , Mutación , Proteínas Serina-Treonina Quinasas/genética , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
Congenital diaphragmatic hernia (CDH) is a rare type of developmental defect of the diaphragm, occurring in 1 per 2000 pregnancies. Morgagni hernia, in particular, which results from an anterior defect of the diaphragm, is the least common type of CDH (5%). Herniation of the liver into the pericardial space, presenting as a thoracic mass with pericardial effusion, is an extremely rare form of Morgagni hernia. Such reported cases are few and occurred only in singleton pregnancies. To the best of our knowledge, we report the first case of fetal echocardiography and fetal MRI following referral due to large pericardial effusion.