Be the Change starts at home

Adam Armiger (\u2707) founded the Hope Marietta Foundation to better the lives of those affected by congenital heart defect

Image to Fit the Clinical Picture: Point-of-care Ultrasound Assessment of Ebstein’s Anomaly in Peru

Ebstein’s anomaly is a congenital heart defect that when left untreated can lead to unique physical exam and ultrasound findings. This case describes a patient who presented with dyspnea and was found to have cyanosis, clubbing, and dilation of right-sided chambers on point-of-care ultrasound. The series of images highlights findings in late-stage Ebstein’s anomaly and serves as a springboard for the discussion of the pathophysiology, diagnosis, and treatment of this rare congenital heart disease

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit.

ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of CCHD screening at multiple time intervals was conducted in 21 NICUs across five states (n=4556 infants).ResultsOf the 4120 infants with complete screens, 92% did not have prenatal CHD diagnosis or echocardiography before screening, 72% were not receiving oxygen at 24 to 48 h and 56% were born ⩾2500 g. Thirty-seven infants failed screening (0.9%); none with an unsuspected CCHD. False positive rates were low for infants not receiving oxygen (0.5%) and those screened after weaning (0.6%), yet higher among infants born at <28 weeks (3.8%). Unnecessary echocardiograms were minimal (0.2%).ConclusionGiven the majority of NICU infants were ⩾2500 g, not on oxygen and not preidentified for CCHD, systematic screening at 24 to 48 h may be of benefit for early detection of CCHD with minimal burden

GAMBARAN PARAMETER HEMATOLOGIS PADA PENDERITA PENYAKIT JANTUNG BAWAAN DI INSTALASI RAWAT INAP ANAK RSUP. DR. M. DJAMIL PADANG

Congenital Heart Defect is one of the most frequent congenital defect found in newborn. World Health Organization (WHO) reported approximately 3.000.000 children born with major congenital defects and 28% of it is congenital heart defect. Initial data survey in last 3 years showed the increase rate of patients with CHD in pediatric department of Dr. M. Djamil Hospital Padang. This study aimed to determine the hematological parameters description (hemoglobin, hematocrit, erythrocyte, leucocyte, and thrombocyte) of congenital heart defect patiens. This study has a descriptive retrospective design with obtaining medical record data of patients in pediatric ward of Dr. M Djamil Hospital Padang from January 2015 - December 2017 with total sample of 103 patiens. The result showed most common type of CHD is VSD in acyanotic (28,20%) and ToF in cyanotic (14,60%), most frequent age is age group of 29 days - 1 year (49,50%) and most common in males (55,30%). Mean hemoglobin value in acyanotic is 11,97 (± 2,78) gr/dl and in cyanotic is 13,72 (± 3,39) gr/dl. Mean hematocrit value in acyanotic is 36,52 (± 7,4) % and 44,54 (± 10,8) % in cyanotic. Mean erythrocyte count in acyanotic is 4.256.538 cell/mm3 and in cyanotic is 5.483.870 cell/mm3. Mean leucocyte count in acyanotic is 12.641 cell/mm3 and 12.877 cell/mm3 in cyanotic. Mean thrombocyte count in acyanotic is 272.140 cell/mm3 and in cyanotic is 230.820 cell/mm3. Congenital heart defect commonly occurred with types VSD in acyanotic and ToF in cyanotic, mostly in age group of 29 days-1 year, males, with mean hemoglobin, hematocrit and erythrocyte higher in cyanotic than acyanotic, mean leucosyte count almost compare in both group and mean thrombocyte count higher in acyanotic than cyanotic CHD. Keyword: Congenital heart defect, acyanotic, cyanotic, hematological parameter

Morbidity and Mortality Weekly Report

Congenital Heart Defect Awareness Weekn/

A Path to Implement Precision Child Health Cardiovascular Medicine.

Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is multifactorial, involving genetic, epigenetic, and/or environmental contributors. Clear dissection of the underlying mechanism is a powerful step to establish individualized therapies. However, the majority of CHDs are yet to be clearly diagnosed for the underlying genetic and environmental factors, and even less with effective therapies. Although the survival rate for CHDs is steadily improving, there is still a significant unmet need for refining diagnostic precision and establishing targeted therapies to optimize life quality and to minimize future complications. In particular, proper identification of disease associated genetic variants in humans has been challenging, and this greatly impedes our ability to delineate gene-environment interactions that contribute to the pathogenesis of CHDs. Implementing a systematic multileveled approach can establish a continuum from phenotypic characterization in the clinic to molecular dissection using combined next-generation sequencing platforms and validation studies in suitable models at the bench. Key elements necessary to advance the field are: first, proper delineation of the phenotypic spectrum of CHDs; second, defining the molecular genotype/phenotype by combining whole-exome sequencing and transcriptome analysis; third, integration of phenotypic, genotypic, and molecular datasets to identify molecular network contributing to CHDs; fourth, generation of relevant disease models and multileveled experimental investigations. In order to achieve all these goals, access to high-quality biological specimens from well-defined patient cohorts is a crucial step. Therefore, establishing a CHD BioCore is an essential infrastructure and a critical step on the path toward precision child health cardiovascular medicine

Surgical Repair of Giant Right Atrial Aneurysm in a Neonate

Right atrial aneurysm is an extremity rare congenital heart defect. We report a case which was diagnosed during the early fetal stage and operated on in a 2 week old neonate. Following median sternotomy, aneurysmectomy was performed under a cardiopulmonary bypass. Histopathological examination of the resected atiral tissue showed a lipotomatous degeneration and reduction of the muscular elements. There were no postoperative complications

The cellular basis of a congenital heart defect Drosophila

RESUMO: Mutações em genes envolvidos na formação do coração e anomalias em qualquer etapa deste processo causam frequentemente malformações cardíacas, que representam o tipo mais comum de defeitos em neonatais, afetando cerca de 1% dos nascimentos por ano. Assim, estima-se que 20 milhões de pessoas sejam portadoras de um defeito cardíaco congénito. O coração da Drosophila melanogaster (mosca-da-fruta), denominado vaso dorsal, é um órgão relativamente simples que actua como uma bomba muscular, contraindo automaticamente para permitir a circulação da hemolinfa através do corpo. A formação do vaso dorsal na mosca é muito semelhante ao desenvolvimento do coração em vertebrados, representando por isso, um poderoso modelo para estudar a rede de genes e os padrões regulatórios relacionados com o desenvolvimento deste órgão. Anteriormente, nós identificámos um gene em Drosophila, darhgef10, fortemente expresso no coração em desenvolvimento e cuja deleção induz anormalidades cardíacas subtis mas prevalentes. Os mutantes para darhgef10 são viáveis e férteis no ambiente controlado de laboratório. Este trabalho teve como objectivos caracterizar fenotipicamente os mutantes nulos para darhgef10, determinar a localização subcelular da proteína dArhgef10 e investigar a base celular subjacente ao defeito no alinhamento dos cardioblastos observado nos mutantes. Os nossos resultados revelaram que a deleção de darhgef10 provoca uma severa redução da viabilidade, sem no entanto comprometer o tempo de desenvolvimento e a longevidade. Por outro lado, o aumento da expressão de darhgef10 em músculos, glândulas salivares e no disco imaginal do olho afeta drasticamente a integridade destes tecidos. A expressão ectópica de darhgef10 in vitro e in vivo revelou que a proteína está localiza no citoplasma com enriquecimento junto à membrana celular, com associação à actina F. Live imaging de embriões mutantes para darhgef10 revelou que os defeitos observados no coração podem estar associados a um defeito na adesão dos músculos alary e/ou das células pericardiais ao vaso dorsal. O homólogo humano de darhgef10, ARHGEF10, também é expresso no coração e está associação a uma maior susceptibilidade para a ocorrência de acidentes vasculares cerebrais aterotrombóticos, sugerindo que o que aprendemos sobre darhgef10 em Drosophila pode ter implicações do ponto de vista clínico para a saúde humana. ----------------------------- ABSTRACT: Mutations in genes controlling heart development and abnormalities in any of its steps frequently cause cardiac malformations, the most common type of birth defects in humans, affecting nearly 1% of births per year. Hence around 20 million adults are expected to live with a congenital heart defect. The Drosophila melanogaster heart, called dorsal vessel, is a relatively simple organ that acts as a muscular pump contracting automatically to allow the circulation of hemolymph. Drosophila heart formation shares many similarities with heart development in vertebrates providing a powerful system to study gene networks and regulatory pathways involved in heart development. We have previously identified a Drosophila gene, darhgef10, which is strongly expressed in the developing heart and when deleted, leads to flies with highly prevalent yet subtle heart abnormalities, compatible with unchallenged life in the laboratory. Our aims were to phenotypically characterize homozygous null darhgef10 mutants, characterize the subcellular localization of dArhgef10 and to study the cellular basis of the misaligned cardioblasts defect. We found that about half of darhgef10 mutants die during development. However, the survivors surprisingly have a nearly normal developmental time, adult locomotor behavior and total lifespan. Detection of transgene-derived dArhgef10 protein in vitro and in vivo using custom antibodies revealed a cytosolic protein slightly enriched in the cellular membranes and associated with F-actin. Tissue-specific darhgef10 expression disrupts the normal morphology of developing muscles, salivary glands and the eye. Live imaging of darhgef10 mutant embryos revealed that heart defect could be caused by a reduced capacity of attachment of pericardial cells and/or alary muscle to dorsal vessel. The human homolog of darhgef10 is also expressed in the heart and is a susceptibility gene for atherothrombotic stroke, suggesting that what we learn about the function of this gene and its phenotypes in Drosophila could have implications to human health

Lung function in patients with a congenital heart defect

Due to the high survival rate, functional outcomes in patients with a congenital heart defect (CHD) have gained more and more attention in recent years. The physical and mental constitution of young, and old patients is of great interest. Especially in coping with everyday life, patients need to have sufficient functional capacity. Exercise performance is one of the strongest predictors of morbidity and mortality in CHD patients and is often impaired. In addition, lung function, an additional functional outcome, which is one of the decisive factors for good exercise capacity, frequently occurs reduced in patients with various CHD. This is significantly related to the underly-ing heart defect, but also to the patients’ lifestyles and generally the current times and therefore also the surgical decade and treatment concepts used for the patient. There are only few studies that have investigated the lung function of CHD patients by means of a "large lung function test" (body plethysmography). Both, the time required and the cost-benefit ratio, play a role here. This study aimed to investigate most lung parameters in a large cohort of CHD pa-tients. The results were divided by children and adults and separated regarding respec-tive heart defect categories. The data show that many patients with congenital heart defects have worse results of lung volumes and function. There is no significant difference in frequency between chil-dren and adults. Most patients who have reduced volumes have small lungs (restriction). Here the data show a correlation with surgery; only a few patients have obstruction in lung function. Nevertheless, more than one third of all patients have abnormal results in spirometry and body plethysmography. Even though the latter revealed that a significant propor-tion (22 out of 52 initially defined as preserved ratio impaired spirometry) had abnor-mal lung function, but the reason could not be specified due to lack of tests. These pa-tients show a non-specific pattern. Additionally, patients with a surgical intervention are more likely to have noteworthy re-sults. Since lung function is (also) related to performance - and because of this and to improve the quality of life of patients with CHD, it is necessary and recommended that a regular lung function test is performed. Changes in the results should lead to further testing and training - thus guaranteeing lifelong monitoring and support for the patient