Impact of pulmonary hypertension and congenital heart disease with hemodynamic repercussion on the severity of acute respiratory infections in children under 5 years of age at a pediatric referral center in Colombia, South America

Acute respiratory infection is one of the main causes of morbidity in children. Some studies have suggested that pulmonary hypertension and congenital heart disease with haemodynamic repercussion increase the severity of respiratory infections, but there are few publications in developing countries. Methods: This was a prospective cohort study evaluating the impact of pulmonary hypertension and congenital heart disease (CHD) with haemodynamic repercussion as predictors of severity in children under 5 years of age hospitalised for acute respiratory infection. Results: Altogether, 217 children hospitalised for a respiratory infection who underwent an echocardiogram were evaluated; 62 children were diagnosed with CHD with haemodynamic repercussion or pulmonary hypertension. Independent predictors of admission to intensive care included: pulmonary hypertension (RR 2.14; 95% CI 1.06–4.35, p = 0.034), respiratory syncytial virus (RR 2.52; 95% CI 1.29–4.92, p = 0.006), and bacterial pneumonia (RR 3.09; 95% CI 1.65–5.81, p = 0.000). A significant difference was found in average length of hospital stay in children with the cardiovascular conditions studied (p = 0.000). Conclusions: Pulmonary hypertension and CHD with haemodynamic repercussion as well as respiratory syncytial virus and bacterial pneumonia were predictors of severity in children with respiratory infections in this study. Early recognition of cardiovascular risks in paediatric populations is necessary to lessen the impact on respiratory infections

Kawasaki disease

La enfermedad de Kawasaki es un estado febril agudo, cuya incidencia es de 175 por cada 100.000 ninos ˜ menores de 5 anos. ˜ Es una vasculitis con predilección por los vasos de pequeno˜ y mediano calibre, especialmente por las arterias coronarias; sin tratamiento pueden desarrollarse aneurismas coronarios que conllevan riesgo de infarto agudo de miocardio y muerte súbita. Se describe el caso de un nino˜ de 4 anos ˜ a quien se diagnosticó enfermedad de Kawasaki y aneurismas fusiformes moderados en las arterias coronarias derecha e izquierda. En control a los dos meses desarrolló nuevo cuadro febril con hipercolesterolemia, trombocitosis y alteración de las pruebas hepáticas. En ecocardiograma de control se evidenció aneurisma gigante en la coronaria izquierda y mediante angiografía coronaria se detectaron dos aneurismas en la coronaria derecha. En vista de que se consideró un caso de evolución atípica, se realizó revisión de la literatura mundial en enfermedad de Kawasaki y se recomendó diagnóstico y tratamiento precoz para disminuir la morbilidad con compromiso cardiovascular severo y/o la mortalidad.Kawasaki disease is an acute febrile state with an incidence of 175 per 100,000 children under the age of 5. It is a vasculitis with a preference for small and mediumsized vessels, especially for coronary arteries. If untreated, coronary aneurysms may pose the risk of acute myocardial infarction and sudden death. The case of a 4 year-old child who was diagnosed of Kawasaki disease and moderate fusiform aneurysms in the right and left coronary arteries is described. Follow-up visit after two months revealed fever again with hypercholesterolemia, thrombocytosis and abnormal liver testing. Control echocardiogram evidenced a giant aneurysm in the left coronary and a coronary angiography detected two additional aneurysms in the right coronary. As this was considered an atypical progress of the condition, review of global Kawasaki disease literature was carried out and early diagnosis and treatment were recommended to reduce morbidity with severe cardiovascular involvement and/or mortality

Identification of a new candidate locus for ebstein anomaly in 1p36.2

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16, who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA. Our data suggest that a distal locus containing the SKI gene and a proximal locus containing the CHD-associated genes RERE and UBE4B are the most probable etiological factors for EA in patients with 1p36 deletion syndrome. © 2018 S. Karger AG, Basel. All rights reserved

Correlación intraclase entre los hallazgos ecocardiográficos y los datos hemodinámicos en pacientes diagnosticados de hipertensión pulmonar idiopática en la Fundación Cardioinfantil - Instituto de Cardiología en Bogotá Colombia

Objectives: Pulmonary hypertension (PH) is defined as a mean pulmonary arterial pressure ? 25 mmHg. The diagnosis of idiopathic PH is made after a thorough study clinical and paraclinical including complete anatomical and functional assessment. The aim of this study is to describe echocardiographic findings and hemodynamic data obtained by cardiac catheterization and assess their degree of correlation. Materials and Methods: Descriptive cross-sectional study and analysis of matching variables through the comparison of pulmonary pressure measured by echocardiography and catheterization through Interclase correlation coefficient (ICC) and the Bland Altman. The study population were children aged 0 days to 18 years who presented Fundación Cardioinfantil – Instituto de Cardiología in Bogotá (Colombia) diagnosed with idiopathic PH evaluated between January 2010 and December 2013. Results: 29 patients diagnosed with idiopathic PH studied with echocardiography and cardiac catheterization were included. The degree of PH documented by echocardiography corresponded to severe in 38% of patients. After cardiac catheterization, the degree of PH was classified as severe in 66% of cases. In 18 patients (62%) pulmonary vascular reactivity test was performed, finding positive response in 7 cases (39%). The concordance analysis of pulmonary pressure measured by echocardiography and catheterization was performed in 20 subjects, with a confidence level of 95%. When comparing the measurement results in both tests is a difference of 15 mmHg which is statistically significant. The tests achieved an ICC of 0.55, with 95% of 0.16 to 0.79, which represents a force of moderate agreement. Conclusions: In the present study the severity of PH corresponded to severe in most patients evaluated for cardiac catheterization. Performing pulmonary vascular reactivity test for both diagnosis and accurate diagnostic decisions is essential. The concordance analysis of pulmonary pressure measured by echocardiography and catheterization through Intraclase Correlation coefficient and the Bland Altman documents a force of moderate agreemen

Identificación de variantes genéticas y anomalías cromosómicas asociadas con la anomalía de Ebstein.

Background/Hypothesis: Ebstein Anomaly (EA) is an infrequent congenital heart defect (CHD) with considerable phenotypic heterogeneity in which right ventricle, tricuspid valve and electrical abnormalities prevail. Phenotypic diversity likely reflects an underlying genetic heterogeneity, which combined with studies based on small cohorts, has hindered high-confidence associations with genetic variants. Although a few chromosomal abnormalities and mutations have been linked to the disease, genetic etiologies have not been identified in most cases. Our Cardiovascular Care Center, a referral institution for CHD, has an unusually large cohort of EA patients that allows a comprehensive study of EA genetics. Materials and Methods: We carried out a thorough phenotypic characterization of 147 EA patients, followed by unsupervised two-step cluster analysis to classify patients according to the presence or absence of comorbidities. Selected syndromic/familial cases were subjected to whole exome sequencing and/or comparative genomic hybridization. Variant filtering was accomplished using family members to identify high confidence associations with identified variants. Results: In the cohort analysis, we identified a large proportion of syndromic (10.9%) and familial cases (11.6%). Molecular testing revealed high likelihood causative variants/abnormalities in most of the syndromic/familial cases studied. Our results suggest a novel association of EA with a rare chromosomal abnormality, the identification of a single gene in the 1p36 EA-associated region, as well as novel variants in familial cases with high likelihood of causality. Cluster analysis identified homogeneous endophenotypes that possibly reflect different underlying genetic etiologies. We are currently expanding our analysis to isolated cases. Conclusions: Our data suggest that major causative genetic variants/ chromosomal abnormalities can be found in a significant proportion of EA cases with thorough phenotypic evaluations and genome-scale molecular testing, raising the possibility of a role for genetic testing in the management of EA

Identification of a new candidate locus for ebstein anomaly in 1p36.2

Ebstein anomaly (EA) is a rare congenital heart defect (CHD) with a poorly characterized genetic etiology. However, some EA patients carry deletions in 1p36, all of which have been reported to carry distal deletions and share loss of the PRDM16 gene, which is currently considered the most likely candidate for EA development in this region. Here, we report a patient with an 11.96-Mb proximal 1p36 deletion, without loss of PRDM16, who presented with EA and a proximal deletion phenotype. This finding suggests that PRDM16 loss is not required for the development of EA in 1p36 deletions and that the loss of an additional proximal locus in 1p36 is also likely associated with EA. Our data suggest that a distal locus containing the SKI gene and a proximal locus containing the CHD-associated genes RERE and UBE4B are the most probable etiological factors for EA in patients with 1p36 deletion syndrome. © 2018 S. Karger AG, Basel. All rights reserved

Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Background: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. Hypothesis: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors. Methods: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis. Results: The most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff-Parkinson-White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities. Conclusions: This study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting. © 2018 Wiley Periodicals, Inc

Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Background: Ebstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes. Hypothesis: Phenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors. Methods: A comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis. Results: The most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff-Parkinson-White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities. Conclusions: This study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting. © 2018 Wiley Periodicals, Inc