Active clinical trials for "Heart Defects, Congenital"

Comparative genomic hybridization (CGH)-based microarrays are now often used during pregnancy in case of fetal polymalformation in order to assess significant genomic alterations. However, it is not clear whether array-CGH provide a diagnostic utility in case of isolated congenital heart defect. This is the first prospective study aiming at defining the right chromosomal screening when a fetal isolated congenital heart defect is identified by ultrasound.

The six-minute walk test is an established submaximal exercise test. Its role in examination of grown-up patients with congenital heart disease (GUCH) is not studied so far. Objective of this study was a comparison of the 6MWT with other established parameters of functional capacity, in grown-up patients with GUCH.

The complex congenital cardiac malformations are a significant number of different diseases, each having specific natural histories. The interface with pulmonary arterial hypertension (HTAP) is high since the physiology of many of these disorders comprises alterations in pulmonary vasculature. This observatory is a cohort of 400 patients enrolled in 3 years, older than one month, having been informed and have agreed to participate in the study and with congenital heart disease other than patent foramen ovale as well as a diagnosis of pulmonary hypertension confirmed by cardiac catheterization. The main objectives of this report are to know Incidence of congenital heart disease in HTAP France. Describe the natural history of HTAP in a large population of patients Congenital heart disease in France The characteristics of HTAP congenital heart disease Having a cohort study

Approximately 400 Congenital heart disease patients will participate in the research study which will include one or more research visits for neurodevelopmental testing, brain MRI, and collection of medical history including previously collected genetic sequencing results. The investigators will explore the association between genetic variants, neurodevelopmental deficits, and brain MRI endophenotype. Analyses will compare groups with and without deleterious de novo mutations.

Approximately 40,000 infants are born each year in the United States with congenital heart defects (CHD), and heart defects are the leading cause of birth defect-related deaths in the United States. While advances in surgical treatment, cardiac bypass, and post-operative management have improved mortality for children born with heart defects, these children continue to have significant morbidity related to post-operative malnutrition, multiple organ dysfunction (MODS), and sepsis. Proposed mechanisms for post-operative sepsis and MODS is via loss of intestinal epithelial barrier function (EBF) or intestinal micro biome diversity. The purpose of this multi-center observational cohort study is to understand the extent to which practice variation for routine post-operative care might worsen intestinal barrier dysfunction and reduce diversity of the intestinal microbiome for infants undergoing surgical correction of left sided cardiac obstructive defects. We will enroll 80 children with left sided obstructive congenital cardiac lesions across several US congenital cardiac centers to obtain clinical data and biological specimens. We will leverage existing differences in nutritional and antibiotic strategies at these centers to better understand how intestinal barrier function and the intestinal microbiome may contribute to post-operative multiple organ dysfunction syndrome.

The aim of the study is to evaluate the value of postoperative troponin in the prediction of mid term and long term mortality and morbidity in children with congenital heart disease undergoing cardiac surgery.

Diastolic function is poorly studied in children with congenital heart disease. This is mainly due to the lack of validated techniques. Cardiac MRI offers two advantages compared to echocardiography: 1. accurate measurements of ventricular volumes and mass; 2. tissue characterization. The main advantage of echocardiography is a better temporal resolution which allows the study of short events like early relaxation. Overall there is a lack of studies correlating different echocardiographic and MRI parameters of heart function in pediatric populations with congenital or acquired heart diseases. This study will address specific questions on specific groups of patients that might bring more insight into chamber interaction and cardiac function. This study hypothesizes the following: Atrial enlargement is a marker of chronic increase in filling pressures and 3D echo might be the best method for follow-up. Cardiac remodeling associated with chronic loading results in changes in diastolic properties related to changes in cardiac mass and volume. This is related to changes in cardiac mechanics influencing diastolic parameters. Especially the influence on twisting and untwisting will be studied. Regional myocardial fibrosis and scarring may account for regional systolic and diastolic dysfunction with possible prognostic impact

Congenital heart disease with need for early surgery in newborns is associated with an increased incidence in global impairment in development. The causes of these late adverse neurologic outcomes are multifactoral and include both fixed (or patient-specific factors) and modifiable factors. They relate to both the mechanism of central nervous system injury associated with congenital heart disease and its treatment. Measuring cerebral oxygenation is a promising non-invasive way of cerebral monitoring in a neonatal intensive care unit. The importance of cerebral monitoring in neonates with congenital heart problems at risk of developing neurological complications is increasingly recognized. In this way the most vulnerable moments for the newborn brain can be detected and ,if possible, lead to change in (timing of) treatment.

The objective of these studies is to identify genetic factors that contribute to the pathogenesis of complex congenital heart disease and other more rare conditions resulting from disturbances in organ positioning. These are a group of medical conditions that are thought to stem from a poorly understood disturbance in the establishment of the basic body plan in the embryo. While the outside of the human body is generally symmetric with mirror image left and right sides, the positions of some internal organs are distinctly asymmetric. For example, the heart could not function properly as a mechanical pump if its connections to major blood vessels retained their initial symmetry. The left ventricle of the heart normally pumps blood to the body, while the right ventricle normally pumps blood to the lungs. Reversals in these blood vessel connections can be fatal. Similarly, the gut characteristically loops in a counterclockwise direction placing the stomach on the left side in most cases. Rare laterality anomalies can occur if this looping is in the other direction, or randomized (equally likely to loop in either direction). Serious medical problems can be caused by disturbances in the establishment, or maintenance of left-right (L-R) differences as key organs are developing in the embryo. We have established formal collaborative agreements with three major centers who have collected a large number of coded cases of congenital cardiac disease. Our research objective is to try to understand if specific genetic changes can contribute to a range of cardiac malformations. We utilize mutational analysis of candidate genes as our principal tool to study the genetics of L-R axis malformations. This protocol is also open to other conditions whose basis is also thought to result from L-R problems. In all cases, the patients continue under the care of the referring physician. We anticipate a minor role of NIH researchers and genetic counseling services if subjects either do not have, or cannot afford, similar services in their local area. This is not a treatment protocol. Our empiric ability to generate medically significant research results is limited by the extensive genetic and other etiologic heterogeneity. Therefore, this research is not a diagnostic study. At this stage of research, we are not sufficiently confident that our research results will have direct medical implications for research subjects. Results that are of potential medical importance will be discussed with the primary physician who is (in most cases) a trained cardiologist (and/or medical geneticist). We will emphasize that these are only preliminary research findings, that they are not CLIA-approved, and must be disclosed to the patient or included in the medical record. Repeat testing in a CLIA-approved lab under another protocol would be required before the genetic information could be shared with the patient and family.

To identify genes involved in the pathogenesis of congenital heart disease, including atrial septal defects (ASDs), paramembranous ventricular septal defects (VSDs), and atrioventricular canal defects (AVCDs).