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BACKGROUND: The aim of this study was to describe the main causes of admission to a general pediatric intensive care unit (PICU), and examine the main causes of mortality in this patient population. In addition, we describe the percentage of patients who died following a failed cardiopulmonary resuscitation (CPR) versus do not resuscitate (DNR) orders. METHODS: This was a retrospective, cohort study with a chart review of admissions and mortality cases that occurred in the PICU. Mortality rates in pediatric admissions are reported with a description of demographics, diagnosis, length of stay, use of mechanical ventilation, use of vasoactive agents, preexisting comorbidities, the presence of a DNR order, and final cause of mortality. Modes of mortality were described as failed CPR or a DNR order. RESULTS: During the study period there were 1,523 admissions to the PICU. Of those, 102 patients died with an overall mortality rate of 6.7%. Patients who died tended to be younger, and the majority (85%) had a preexisting comorbidity, with neuromuscular disease being the most common. The majority of the patients who died (69%) required invasive ventilation. The most common immediate cause of mortality was respiratory disease and the highest case fatality was among those with cardiac disease. Of those patients who died, 90% had failed CPR and 10% had a DNR order. Care was not withdrawn from any patient. CONCLUSION: This study describes the diagnostic categories of children admitted to the PICU, with respiratory disease being the most common cause of admission and mortality. The majority of children who died had an existing comorbidity and did not have a DNR order at the time of their death.
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Hospitales de Enseñanza , Unidades de Cuidado Intensivo Pediátrico , Humanos , Niño , Estudios Retrospectivos , Estudios de Cohortes , Jordania/epidemiología , Mortalidad HospitalariaRESUMEN
We present a case of successful balloon angioplasty of native aortic coarctation in a preterm infant, a donor of twin-twin transfusion syndrome with low birth weight. Angioplasty was done at the age of 15 days and weight of 480 g, using umbilical artery approach. Follow-up at 4 months of age showed no recurrence of coarctation.
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Angioplastia de Balón , Coartación Aórtica , Transfusión Feto-Fetal , Coartación Aórtica/cirugía , Coartación Aórtica/terapia , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Embarazo , Recurrencia , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: There are many challenges facing Syrian refugee children with heart disease. In this report, we present the spectrum, management, and outcome of heart disease in Syrian refugee children over six-year period, highlighting challenges in management and availability of funding. METHODS: Data on Syrian refugee children with heart disease diagnosed between 2012 and 2017 were collected. Patients were followed until January 2019. Data reported included age, diagnosis, recommended treatment, types of procedures done, mortality, cost, financial sources for procedures, and outcome. RESULTS: 415 Syrian refugee children were diagnosed with heart disease at our institution. Median age was 1·9 years (0·4-6·05) years. Children were either born in Syria and fled to Jordan with their families (224, 54%), or born in Jordan to refugee parents (191, 46%). Follow-up was established for 335 patients (81%). Of 196 patients needing surgery, 130 (72%) underwent Surgery, and of 97 patients needing interventional catheterization, 95 underwent the procedure. Waiting time was 222(± 272) days for surgery and 67(± 75) days for catheterizations. Overall mortality was 17% (56 patients), of which 28 died while waiting for surgery. Cost of surgical and interventional catheterization procedures was $7820 (± $4790) and $2920 (± $2140), respectively. Funding was obtained mainly from non-government organizations, private donors, and United Nations fund. CONCLUSION: Despite local and international efforts to manage Syrian refugee children with heart disease, there is significant shortage in providing treatment resulting in delays and mortality. More organized efforts are needed to help with this ongoing crisis.
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Cardiopatías/epidemiología , Cardiopatías/terapia , Refugiados , Cateterismo Cardíaco/métodos , Procedimientos Quirúrgicos Cardíacos/métodos , Niño , Preescolar , Femenino , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/terapia , Cardiopatías/economía , Cardiopatías/mortalidad , Hospitales Universitarios , Humanos , Lactante , Jordania/epidemiología , Masculino , Siria/epidemiología , Resultado del TratamientoRESUMEN
We present a case of a 31-year-old male with a large atrial septal defect, who was found to have interrupted inferior caval vein with azygous continuation to the superior caval vein, which precluded transcutaneous closure by device. The defect was successfully closed with a 33 mm Occlutech Figula septal occluder using a sub-mammary small thoracotomy incision and per-atrial approach without using cardiopulmonary bypass. The patient was discharged home after 48 hours of procedure.
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Cateterismo Cardíaco/métodos , Puente Cardiopulmonar/métodos , Defectos del Tabique Interatrial/cirugía , Dispositivo Oclusor Septal , Vena Cava Inferior/anomalías , Adulto , Ecocardiografía Transesofágica , Defectos del Tabique Interatrial/diagnóstico , Humanos , Masculino , Toracotomía , Resultado del TratamientoRESUMEN
OBJECTIVE: To report on the first 5 years of establishment of fetal echocardiographic services at the Jordan University Hospital with emphasis on diagnosis and outcome. METHODS: A retrospective chart review was conducted on all fetal echocardiographic studies performed between January 2011 and December 2015. Data collected included maternal demographics, referral indications, fetal cardiac diagnosis, correlation to post-natal diagnosis, outcome of pregnancy including pre-mature delivery and perinatal mortality. Basic statistical analysis was performed including demographic analysis, and calculation of fetal echocardiographic sensitivity and specificity. RESULTS: A total of 208 fetuses underwent fetal echocardiographic evaluation at a mean gestational age of 26.5 (±5) weeks. The most common referral indication was a suspicion of CHD during the obstetric ultrasound (44.2%), followed by cardiac dysfunction (18.2%), and a family history of CHD (14.9%). Fetal echocardiography showed CHD in 71 fetuses (34%), heart failure in 26 (12.5%), arrhythmia in 9 (4.3%), and intracardiac masses in 2. In the remaining 100 fetuses (48%), fetal echocardiography showed normal evaluation. For detecting CHD, fetal echocardiography had a sensitivity and specificity of 91.7% and 95.4%, respectively. Perinatal mortality including termination of pregnancy, intrauterine fetal death, and neonatal mortality was highest in heart failure (77%), and was 41% for CHD. CONCLUSION: The fetal cardiac diagnostic services at the Jordan University Hospital have encouraging initial results with a relatively high sensitivity and specificity. The services further positively impacted the quality of counselling offered and facilitated pre- and post-natal management.
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Arritmias Cardíacas/diagnóstico , Corazón Fetal/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico , Insuficiencia Cardíaca/diagnóstico , Nacimiento Prematuro/epidemiología , Adulto , Arritmias Cardíacas/epidemiología , Países en Desarrollo , Ecocardiografía , Femenino , Corazón Fetal/anomalías , Edad Gestacional , Cardiopatías Congénitas/epidemiología , Insuficiencia Cardíaca/epidemiología , Hospitales Universitarios , Humanos , Recién Nacido , Jordania/epidemiología , Masculino , Mortalidad Perinatal , Embarazo , Diagnóstico Prenatal/métodos , Estudios Retrospectivos , Sensibilidad y Especificidad , Ultrasonografía Prenatal , Adulto JovenRESUMEN
OBJECTIVE: The purpose of this study was to determine whether a murmur detected on routine pre-discharge examination of asymptomatic newborn children in the first 48 hours of life warrants further investigation with echocardiography. METHODS: We conducted a retrospective review of all echocardiography studies of neonates born at Jordan University Hospital between August, 2007 and June, 2014. Findings on physical examination as well as the indication of the echocardiographic studies were reviewed. We included asymptomatic neonates for whom echocardiographic studies were carried out due to the sole indication of a heart murmur on routine pre-discharge neonatal physical examination. RESULTS: Of 309 asymptomatic newborns with murmurs on pre-discharge examination, echocardiography revealed 68 (22%) cases of CHD, with 18 (6%) designated as significant heart disease with anticipated intervention during infancy or childhood. The most common abnormality was ventricular septal defect occurring in 36 cases. Critical heart diseases detected included hypoplastic left heart syndrome in two and aortic valve stenosis in four newborns. CONCLUSIONS: Although most asymptomatic neonates with heart murmurs have normal hearts, a small percentage may have significant heart disease. The decision to refer an asymptomatic newborn with a murmur for echocardiography before discharge from the hospital remains controversial and must be supported by other evidence such as murmur characteristics and local trends in parental compliance with follow-up well-baby visits.
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Estenosis de la Válvula Aórtica/diagnóstico por imagen , Ecocardiografía , Soplos Cardíacos/etiología , Defectos del Tabique Interventricular/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Jordania , Masculino , Alta del Paciente , Estudios RetrospectivosRESUMEN
We present a case of severe aortic coarctation in a donor of twin-twin transfusion syndrome. Patients underwent two angioplasty procedures at age 7 and 47 days, weighing 900 and 1500 g, respectively. Umbilical artery approach was used in the first procedure, and femoral artery approach was used in the second. Follow-up at the age of 13 months showed no recurrence of coarctation.
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Angioplastia de Balón/métodos , Coartación Aórtica/cirugía , Transfusión Feto-Fetal/complicaciones , Coartación Aórtica/complicaciones , Femenino , Humanos , Lactante , Recién Nacido , Recien Nacido Prematuro , Masculino , Embarazo , ReoperaciónRESUMEN
BACKGROUND: This study investigates how congenital heart diseases (CHD) characteristics and interventions affect cognitive and verbal skills in Arab children, while also uncovering previously unexplored connections between these skills and the quality of life (QoL) scores as perceived by both children and parents. METHODS: A cross-sectional study was conducted in Jordan, involving 62 children with CHD aged 6-16. Data were collected through standardized intelligence tests (namely The Raven's Progressive Matrices Test and The Wechsler Intelligence Scale for Children) and QoL assessments. RESULTS: Sex, disease severity, cyanosis, CHD defect status, conducted operations, and types of interventions did not significantly influence cognitive scores. However, a significant difference was observed in Wechsler's scores between cyanotic and non-cyanotic children (p < .01) and between severe and moderate cases (p = .01). Further, a significant positive correlation was identified between Wechsler's Scores and QoL reported by parents (r = 0.33, p < .01). This correlation was particularly pronounced in the social and school functioning dimensions of QoL. CONCLUSIONS: This study highlights the need for personalized care approaches for children with CHDs based on their individual characteristics. While cognitive abilities did not directly correlate with children's QoL reports, a significant positive correlation between verbal skills and QoL reported by parents underscores the importance of effective communication in assessing a child's overall well-being. Future research should further examine the cognitive development in this population, employing neurocognitive investigations and longitudinal studies to gain a deeper understanding of their cognitive profiles and trajectories.
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Árabes , Cognición , Cardiopatías Congénitas , Calidad de Vida , Humanos , Masculino , Femenino , Niño , Cardiopatías Congénitas/psicología , Calidad de Vida/psicología , Árabes/psicología , Cognición/fisiología , Estudios Transversales , Adolescente , Jordania , Escalas de Wechsler , Pruebas de InteligenciaRESUMEN
PROBLEM: Little is known regarding the healthcare needs and experiences of pregnant women with congenital heart disease (CHD) during pregnancy. BACKGROUND: Congenital heart diseases are the most common birth anomalies, and they embrace a wide range of defects ranging from mild to complex and life-threatening defects. Pregnancy carries many physiological and psychological changes that affect pregnant woman with CHD and need special attention and consideration. AIM: To explore the healthcare needs and experiences of Jordanian women with CHD during pregnancy. METHODS: A descriptive phenomenological design was used. Utilising purposive sampling, 15 participants were recruited. Data was collected using individualised semi-structured interviews. Interviews were recorded and transcribed verbatim. Data were analyzed using Colaizzi's method. FINDINGS: Three themes were identified: a) A broad spectrum of health needs during pregnancy, b) not being cared for, c) and the healthcare journey: Challenges and recommendations. Findings revealed that pregnancy in women with CHD is associated with many challenges and needs, and the lived healthcare experiences are mostly negative. DISCUSSION: This study addresses the healthcare needs and experiences of pregnant women with CHD during pregnancy. Our findings shed light on healthcare needs explored hidden aspects of the experiences of this vulnerable population and gave them the chance to make their voices heard. CONCLUSION: The study concluded that pregnant women with CHD experience hardship associated with negative challenges and personal suffering. The findings highlight the importance of the basic values and the need for a holistic approach and effective teamwork to minimise suffering among pregnant women with CHD.
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Cardiopatías Congénitas , Mujeres Embarazadas , Femenino , Embarazo , Humanos , Mujeres Embarazadas/psicología , Investigación Cualitativa , Atención a la SaludRESUMEN
Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan. We sought to uncover the genetic landscape of 14 patients from nine families with several subtypes of pediatric cardiomyopathies in Jordan using Exome sequencing (ES). Our investigation identified pathogenic and likely pathogenic variants in seven out of nine families (77.8%), clustering in sarcomere-related genes. Surprisingly, phenocopies of sarcomere-related hypertrophic cardiomyopathies were evident in probands with glycogen storage disorder and mitochondrial-related disease. Our study underscored the significance of streamlining ES or expanding cardiomyopathy-related gene panels to identify plausible phenocopies of sarcomere-related cardiomyopathies. Our findings also pointed out the need for genetic testing in patients with cardiomyopathy and their at-risk family members. This can potentially lead to better management strategies, enabling early interventions, and ultimately enhancing their prognosis. Finally, our findings provide an initial contribution to the currently absent knowledge about the molecular underpinnings of cardiomyopathies in Jordan.
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Cardiomiopatías , Linaje , Sarcómeros , Humanos , Jordania , Masculino , Femenino , Sarcómeros/genética , Niño , Cardiomiopatías/genética , Cardiomiopatías/diagnóstico , Preescolar , Secuenciación del Exoma , Lactante , Fenotipo , Adolescente , Mutación , Pruebas Genéticas/métodosRESUMEN
OBJECTIVES: We studied the clinical characteristics and outcomes of neonates with congenital diaphragmatic hernia (CDH) admitted to a non-extracorporeal membrane oxygenation (ECMO) center. METHODS: A retrospective chart review of neonates with CDH admitted to a University Hospital, in Amman, Jordan, between 2005 and 2019. Demographic characteristics and their management details were extracted and factors associated with survival were analyzed. RESULTS: A total of 28 neonates born with CDH were included; their survival rate was 39.3%. Onset of respiratory distress, pre-operative ventilation, and length of hospitalization were significantly associated with mortality. Survival after surgery was significantly associated with a higher gestational age and a longer hospital stay. CONCLUSION: Our study showed a high mortality rate for CDH patients. Decreasing the health inequity and improved clinical interventions could improve outcomes.
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Hernias Diafragmáticas Congénitas , Recién Nacido , Humanos , Hernias Diafragmáticas Congénitas/terapia , Jordania/epidemiología , Estudios Retrospectivos , Edad Gestacional , HospitalizaciónRESUMEN
BACKGROUND AND PURPOSE: Management strategies for children with congenital health diseases (CHDs) should encompass more than just the medical aspect of the disease and consider how heart diseases affect their everyday activities and, subsequently, their quality of life (QoL). Global studies witnessed a greater emphasis on studying the QoL associated with CHD. However, there is still a great lag in such data in the Arab region. The purpose of this study was to evaluate QoL in children with CHD using an Arab sample from Jordan. The specific objectives were twofold: (1) to contrast the assessments of children's QoL reported by their parents with those reported by the children themselves, and (2) to assess the factors that influence the QoL of children with CHD. METHODS: A total of 79 children aged 2-18 with a confirmed diagnosis of CHD were included in the study, along with their mothers. Of them, 38.0% were girls, 67.1% were diagnosed with non-cyanotic CHD, 58.2% had a severe CHD, 92.4% had undergone at least one operation, 81.0% had repaired defects, 13.9% underwent palliated procedures, and 24.1% were admitted to a neonatal intensive care unit after delivery. The Pediatric Quality of Life Inventory was used to assess QoL of children with CHD. Both children's and parents' reports of QoL were analyzed using paired-sample t-tests, ANOVAs, and multiple linear regression. RESULTS: Older children reported significantly lower QoL scores, whereas there were no differences in parents-reported QoL scores across different children age groups. There was a divergence in perceptions of QoL between parents-reported and children-reported scores with parents reporting significantly lower scores. The children-reported QoL in this study seemed to be significantly associated with their gender, age, and the presence of learning difficulties, whereas the parent-reported QoL was only associated with the presence of learning difficulties. CONCLUSIONS: Responses from both children and parents need to be considered to understand the similarities and differences between them and to provide further insight into the optimal way to help children with CHD effectively navigate the transition into adulthood. Future research studies of outcomes for survivors of children with CHD are needed to identify high-risk survivors for worse psychosocial functioning and assess prevention measures and treatment interventions to improve their QoL.
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Cardiopatías Congénitas , Calidad de Vida , Niño , Femenino , Recién Nacido , Humanos , Adolescente , Masculino , Calidad de Vida/psicología , Árabes , Cardiopatías Congénitas/psicología , Análisis Multivariante , Modelos Lineales , Padres/psicologíaRESUMEN
OBJECTIVE: Congenital heart diseases (CHDs) are the most common birth anomalies, and they embraced a wide range of defects ranging from mild defects to complex and life-threatening defects. Medical advancement improved children's survival, and more females are reaching childbearing age. The purpose of this study was to explore and describe the lived experience of Jordanian pregnant women with CHD during pregnancy. METHOD: This study used a descriptive phenomenological design. Purposive sampling was used in recruiting 15 women from Jordan with CHD who had given birth to at least one live newborn. The study was conducted from October 2019 to April 2020. Data was collected from a public cardiac centre using face-to-face semi-structured interviews. Interviews were recorded and transcribed verbatim. Analysis was done using Colaizzi's method. FINDINGS: Three themes were identified: Being a woman with CHD, being pregnant with CHD, and being a CHD patient and healthcare-seeking behaviour. The findings revealed that pregnancy experiences of women with CHD are usually associated with many difficulties, negative emotions, and challenges. CONCLUSION AND IMPLICATIONS FOR PRACTICE: The findings indicated the need for increased awareness and the importance of social support amongst both Jordanian women with CHD and healthcare providers. Also, the study provides new information to healthcare providers and policymakers to better understand the lived experiences of pregnant with CHD from their perspectives as it was associated with many difficulties, negative emotions, and challenges.
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Cardiopatías Congénitas , Mujeres Embarazadas , Niño , Recién Nacido , Humanos , Femenino , Embarazo , Investigación Cualitativa , Apoyo Social , Cardiopatías Congénitas/complicaciones , PartoRESUMEN
Kawasaki disease is the leading cause of acquired coronary artery disease in young children. There is a lack of data on Kawasaki disease and its effect on coronary arteries in Jordan and other developing countries. We report clinical and demographic data of Kawasaki disease in Jordan from a single institution, with emphasis on cardiac involvement and short to intermediate follow-up. Review of the medical records of 34 patients with Kawasaki disease from 1997 to 2010 was done for clinical and demographic variables. Echocardiographic and angiographic images were reviewed for patients at presentation and follow-up. The median age at presentation was 19 months, ranging from 2 months to 8 years, with a male to female ratio of 3.9:1. In all, 12 patients (35%) had incomplete Kawasaki disease. There was a high incidence of coronary artery involvement (41%), where 20.5% had aneurysms and 20.5% had ectasia without aneurysm. Most coronary aneurysms were present at the time of diagnosis. The only independent variable for prediction of coronary involvement was age, with an odds ratio of 0.63 per year (95% confidence interval 0.41-0.95).
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Aneurisma Coronario/etiología , Enfermedad de la Arteria Coronaria/etiología , Inmunoglobulinas Intravenosas/uso terapéutico , Factores Inmunológicos/uso terapéutico , Síndrome Mucocutáneo Linfonodular , Factores de Edad , Niño , Preescolar , Aneurisma Coronario/diagnóstico por imagen , Aneurisma Coronario/epidemiología , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/epidemiología , Vasos Coronarios/diagnóstico por imagen , Dilatación Patológica , Ecocardiografía , Femenino , Humanos , Lactante , Jordania/epidemiología , Modelos Logísticos , Masculino , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/tratamiento farmacológico , Síndrome Mucocutáneo Linfonodular/epidemiología , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
We present two cases of Isolated complex pulmonary arteriovenous malformations in two children presenting with cyanosis and exercise intolerance. We present the anatomical features and the management of each case. One patient was treated with surgical ligation of the draining vein, and one patient was treated percutaneously by closure of the feeding segmental artery.
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Fístula Arteriovenosa , Malformaciones Arteriovenosas , Embolización Terapéutica , Venas Pulmonares , Fístula Arteriovenosa/complicaciones , Fístula Arteriovenosa/diagnóstico por imagen , Fístula Arteriovenosa/cirugía , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/diagnóstico por imagen , Malformaciones Arteriovenosas/cirugía , Niño , Cianosis/etiología , Humanos , Arteria Pulmonar/anomalías , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/cirugía , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Venas Pulmonares/cirugíaRESUMEN
Objective: We aim to report our heart team's experience in repair of Secundum atrial septal defect (ASD) in adolescent and adult patients at Jordan University Hospital (JUH). Methodology: A retrospective observational study of 44 patients who underwent secundum ASD closure by transcatheter closure (TCC) or Minimally Invasive Cardiac Surgery (MICS) at JUH. Patients who were treated at an age of 14 years or older regardless of the age of diagnosis were included. SPSS and Microsoft Excel were used to analyze the data. Results: A total of 44 patients with secundum ASD were treated during the period of (January 2015 and December 2019). The mean age was 34.1 (±14.3) years. Thirty-four patients underwent TCC, 9 underwent surgical closure and one had a hybrid procedure. We had no mortality and 2 minor morbidities. After a mean follow-up period of 13.2-/+13.6 months, most patients experienced improved symptoms, and there was a significant reduction of right ventricular dimension from 33.1 (±8.74) to 24 (±4.67) mm (p=0.0001). Conclusion: ASD closure whether TCC or MICS is a safe procedure with very low morbidity. A heart team approach is a necessity in the era of advances in both MICS surgery and TCC approach. A heart team provides the patients with a variety of safe and cosmetic solutions that allow the patients to have a fast management and recovery phase in rapid time through providing the merits and avoiding the complications of each modality, the team allows low volume centers in developing countries to achieve an excellent outcome.
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Myocarditis and/or pericarditis (also known as myopericarditis) are inflammatory diseases involving the myocardium (with non-ischemic myocyte necrosis) and/or the pericardial sac. Myocarditis/pericarditis (MPC) may present with variable clinical signs, symptoms, etiologies and outcomes, including acute heart failure, sudden death, and chronic dilated cardiomyopathy. Possible undiagnosed and/or subclinical acute myocarditis, with undefined potential for delayed manifestations, presents further challenges for diagnosing an acute disease and may go undetected in the setting of infection as well as adverse drug/vaccine reactions. The most common causes of MPC are viral, with non-infectious, drug/vaccine associated hypersensitivity and/or autoimmune causes being less well defined and with potentially different inflammatory mechanisms and treatment responses. Potential cardiac adverse events following immunization (AEFIs) encompass a larger scope of diagnoses such as triggering or exacerbating ischemic cardiac events, cardiomyopathy with potential heart failure, arrhythmias and sudden death. The current published experience does not support a potential causal association with vaccines based on epidemiologic evidence of relative risk increases compared with background unvaccinated incidence. The only evidence supporting a possible causal association of MPC with a vaccine comes from case reports. Hypersensitivity MPC as a drug/vaccine induced cardiac adverse event has long been a concern for post-licensure safety surveillance, as well as safety data submission for licensure. Other cardiac adverse events, such as dilated cardiomyopathy, were also defined in the CDC definitions for adverse events after smallpox vaccination in 2006. In addition, several groups have attempted to develop and improve the definition and adjudication of post-vaccination cardiovascular events. We developed the current case definitions for myocarditis and pericarditis as an AEFI building on experience and lessons learnt, as well as a comprehensive literature review. Considerations of other etiologies and causal relationships are outside the scope of this document.
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Miocarditis , Pericarditis , Vacunación , Humanos , Incidencia , Miocarditis/inducido químicamente , Miocarditis/diagnóstico , Miocarditis/epidemiología , Pericarditis/diagnóstico , Pericarditis/epidemiología , Pericarditis/etiología , Vacunación/efectos adversosRESUMEN
Variants in Tbox transcription factor 5 (TBX5) can result in a wide phenotypic spectrum, specifically in the heart and the limbs. TBX5 has been implicated in causing nonsyndromic cardiac defects and HoltOram syndrome (HOS). The present study investigated the underlying molecular etiology of a family with heterogeneous heart defects. The proband had mixedtype total anomalous pulmonary venous return (mixedtype TAPVR), whereas her mother had an atrial septal defect. Genetic testing through triobased wholeexome sequencing was used to reveal the molecular etiology. A nonsense variant was identified in TBX5 (c.577G>T; p.Gly193*) initially showing cosegregation with a presumably nonsyndromic presentation of congenital heart disease. Subsequent genetic investigations and more complete phenotyping led to the correct diagnosis of HOS, documenting the novel association of mixedtype TAPVR with HOS. Finally, protein modeling of the mutant TBX5 protein that harbored this pathogenic nonsense variant (p.Gly193*) revealed a substantial drop in the quantity of noncovalent bonds. The decrease in the number of noncovalent bonds suggested that the resultant mutant dimer was less stable compared with the wildtype protein, consequently affecting the protein's ability to bind DNA. The present findings extended the phenotypic cardiac defects associated with HOS; to the best of our knowledge, this is the first association of mixedtype TAPVR with TBX5. Prior to the current analysis, the molecular association of TAPVR with HOS had never been documented; hence, this is the first genetic investigation to report the association between TAPVR and HOS. Furthermore, it was demonstrated that the nullvariants reported in the Tbox domain of TBX5 were associated with a wide range of cardiac and/or skeletal anomalies on both the interand intrafamilial levels. In conclusion, genetic testing was highlighted as a potentially powerful approach in the prognostication of the proper diagnosis.
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Cardiopatías Congénitas , Defectos del Tabique Interatrial , Síndrome de Cimitarra , Proteínas de Dominio T Box , Anomalías Múltiples , Femenino , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/patología , Defectos del Tabique Interatrial/diagnóstico , Defectos del Tabique Interatrial/genética , Humanos , Deformidades Congénitas de las Extremidades Inferiores , Fenotipo , Síndrome de Cimitarra/genética , Proteínas de Dominio T Box/genética , Deformidades Congénitas de las Extremidades SuperioresRESUMEN
BACKGROUND: The aim of the study was to investigate the clinical outcomes and rate of virus detection in neonates born to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-positive mothers. METHODS: This prospective study included neonates born to SARS-CoV-2-positive mothers, documenting their viral polymerase chain reaction results and clinical outcomes. RESULTS: Of the 130 neonates born to 122 SARS-CoV-2-positive mothers, 12% tested positive. Most (62%) neonates were delivered via cesarean section at an average gestational age of 36 weeks, with a birth weight of 2,900 g. Only 38% neonates required admission. SARS-CoV-2-positive infants were born at a significantly lower gestational age; had a significantly lower birth weight; and had significantly higher admission rates, surfactant therapy, and bradycardia than SARS-CoV-2-negative infants. There was no significant difference in mortality rates. CONCLUSION: This study documents perinatal transmission of SARS-CoV-2. It reports for the first time the occurrence of neonatal bradycardia as a complication of maternal SARS-CoV-2 infection. Despite that, neonates born to SARS-CoV-2-positive mothers had relatively good short-term outcomes.
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This report describes a case involving anomalous drainage of inferior vena cava (IVC) to the left atrium diagnosed when the patient was 32 years old. The tricuspid valve and the right ventricle were small. Successful surgical repair was performed, with significant improvement of the patient's clinical status. The use of exercise testing with pulse oxymetry monitoring aided in the decision of timing for closure of the iatrogenically created atrial septal defect.