Innovative research and emerging medical technologies offer an enormous impact on the survival and long-term care of individuals affected by congenital heart defects. While the heart defect might have been surgically repaired, the chronic disease associated with the heart condition is not cured. Unfortunately, research specific to CHD has been seriously underfunded due to a lack of public recognition. It is the CHD Coalition’s mission to not only directly support research, but also to unify the CHD Community to generate national awareness of the #1 birth defect and ultimately fuel widespread contribution to these programs. Advocacy leads to funding, which advances research, and saves lives.
Collectively to date, the CHD Coalition has granted over half a million dollars to carefully-selected research programs led by progressive hospitals across the United States. Institutions that have been awarded grants have included Children’s Hospital of Philadelphia, Children’s Hospital at Montefiore, Cohen Children’s Medical Center of New York, Icahn School of Medicine, Columbia University Medical Center, and Boston Children’s Hospital. The CHD Coalition will continue to evaluate studies from the leading institutions that focus on congenital heart defects.
There are no salaried employees at the CHD Coalition. All donations go to research and to continue the CHD Coalition’s various programs. This is a significant differentiator between us and similar organizations. It is imperative that donors evaluate an organization’s commitment to research, not just from their mission statement, but also from the percentage of money given to research compared to the amount paid to their employees.
|2018||$50,000||Children’s Hospital of Philadelphia||Philadelphia, PA|
|There are a number of complex congenital heart defects (CHDs) in which the heart is repaired in such a way that some portion of it experiences abnormal stress and pressure. In these surgically treated CHDs (e.g., Tetralogy of Fallot and Hypoplastic Left Heart Syndrome), the right ventricle, which is normally smaller than the left ventricle, is subject to additional stress. The additional stress on the right ventricle results in hypertrophy (enlargement) and creates scar tissue and other abnormalities over time. In some cases, this “remodeling” of the right ventricle leads more rapidly to right ventricle failure than in other cases, which are often otherwise very similar. Why should some patients experience right ventricle failure while other, similar patients maintain good right ventricle function for a much longer time? This study, conducted by Dr. Jonathan Edwards and team at CHOP (Children’s Hospital of Philadelphia) is looking to answer that question by examining the genetic building blocks (DNA, RNA transcription, protein formation) of heart muscle growth. Understanding how and why right ventricular function (RVF) is preserved can lead to the development of medications and other interventions to improve RVF for all CHD patients who are at risk of such complications.|
|2018||$30,000||Columbia University/New York Presbyterian Hospital||New York, NY|
|Last year, the CHD Coalition provided a $50,000 grant to Dr. Kimara Targoff’s team at Columbia Presbyterian to help them further their work examining the NKX2.5 family of genes, and their role in the formation of the embryonic heart. They experimented using Zebra fish (because of their similarity to mammals, ease of breeding rapidly, and visual transparency.Over the course of 2018, the team explored the connection between these genes and heart formation in the zebra fish, modifying the expression of these genes and noting the resulting differences in cardiac development. With a greater understanding of how, and when, NKX genes affect heart formation, they are looking to dig deeper into the mechanics of this development. What exactly is happening between DNA, RNA transcription and protein formation, that defines this connection between genetics and heart growth? Whereas the first portion of the study focused on heart formation, this 2nd phase will more narrowly examine that connection in the context of repair (for example, of a torn heart muscle) in the hopes of more clearly understanding the specific transcription mechanics at work. This important work brings the medical community yet another step closer to understanding how CHDs form, and what kind of interventions can prevent or treat them. The CHD Coalition is proud to be able to contribute again this year to further this work.|
|2018||$30,000||Boston Children’s Hospital||Boston, MA|
|Tetralogy of Fallot (ToF) is the most common cyanotic congenital heart defect. Patients who undergo ToF repair very often have residual defects (e.g., leaky or narrowed pulmonary valve, or a narrowing of the branch pulmonary arteries) Over time, these defects cause stress and deterioration of the right ventricle. Surgical and procedural interventions (such as pulmonary valve replacement) are very helpful in preventing or slowing this deterioration, but it’s very difficult to know WHEN to intervene. If intervention is performed too late the heart may be damaged by stress, but surgical procedures performed too early can be debilitating and should be minimized. The goal of this study, which is being led by Dr. Valeria Duarte is to provide doctors with a better guide to making this determination by correlating something that’s easy to measure (tolerance to exercise) with some thing that’s much harder to measure: the degree of ventrical dilation apparent in analysis of CMR (Cardiac Magnetic Resonance) image data. The study will make use of, and contribute to, a multi-center database (International Multi-center ToF Registry) specifically to look at exercise capacity as it relates to the measurement of ventricular size and function. Giving doctors the tools to apply optimal timing to valve-replacement surgeries can improve the quality of life for many patients with a CHD.|
|2017||$50,000||Columbia Presbyterian||New York, NY|
|“Genetic Marker NKX2-5 and Heart Development”
In a human embryo, the heart develops in two major phases. In the first phase, stem cells become heart cells and line up in a tube shape. In the 2nd phase, the tube folds over, with one end becoming the right (pulmonary) side and the other becoming the left (aortic) side. There is a particular gene called (NKX2-5) that controls this 2nd phase of development – which is when many heart defects begin to appear. The funding provided to Columbia University by the CHD Coalition is enabling a study of this gene led by Dr. Kimara Targoff. The study will use genetically modified Zebra fish to better understand how the gene it affects the development of the heart in this 2nd phase. Zebra fish are used because their genes are similar to humans, and because they are easy to study and breed quickly. Their embryos and larvae are also completely transparent, making it easy to see what has occurred in development. The knowledge gained from this study will help with early detection for risk (via genetic marker) and – perhaps more important – may lead to the development of genetic or protein therapies with a possibility of correcting early heart development.Official Title of Research: Mechanisms of Second Heart Field Development Regulated by crisp Genes Downstream of Nkx Factors
|2017||$50,000||Children’s Hospital of Philadelphia||Philadelphia, PA|
|“Placental Dysfunction and CHDs”
A growing amount of experimental research has determined that there is a link between the development of the heart and the placenta. Fetuses with CHDs are known to have abnormal placentas. The health of placenta itself is difficult to assess – usually it can only be studied after the child is born. However, there is a relatively new way to measure the blood flow in the umbilical cord with ultrasound. The measurement is called Umbilical Venous Volume Flow or UVVF for short. The money we are donating to the Children’s Hospital of Philadelphia will fund a comprehensive study, led by Dr. Jack Rychik that will, for the first time, examine the correlation between UVVF measurements and CHDs. The study will compare the UVVF measurements of fetuses with CHDs to those of fetuses without CHDs, and will also correlate the UVVF measurements to a more detailed assessment of the health of the placenta after the child is born. The outcome of this study may result in greater acceptance of the UVVF measurement as a reliable early indicator of fetal cardiac problems, and as a way of monitoring whether or not efforts to improve placental function – and the health of the child – are working.Official Title of Research: Blood Flow and Placental Structural Characteristics in the Fetus with Congenital Heart Disease
|2016||$50,000||Columbia University Medical Center||New York, NY|
|“Valve Prosthesis with Growth”
The objective of this research proposal is to produce and evaluate a prototype of an innovative non-biological mechanically-engineered valved prosthesis which could grow with time, avoiding multiple reoperations in children and adults with CHDs and improving their quality of life. Such a new generation of valved device would be based on a mechanical disruptive concept, never used before in currently available valve prosthesis. If successful, such a device could have a significant impact on the quality of life by avoiding surgery and saving lives, as well as a positive impact to financial, emotional and social aspects related to valve replacement.
|2016||$50,162.32||Children’s Hospital of Philadelphia||Philadelphia, PA|
|“Molecular signals involved in the growth and development of systemic-pulmonary arterial collateral vessels”
Children with forms of single ventricle heart disease are known to be at significantly higher risk for a number of complications and shortened lifespan. One particular problem unique to children with single ventricle heart disease is the development of systemic-pulmonary arterial collateral flow. This study will help to better understand the causes of collateral vessel formation; it may be possible to develop a specific drug therapy that reduces collateral formation and potentially improve the quality of life for children with single ventricle heart disease.
|2015||$50,000||Children’s Hospital of Philadelphia||Philadelphia, PA|
|Elizabeth Goldmuntz, MD
“Genotype Identifies the At-Risk Population for Long Term Complications in Tetralogy of Fallot”
Tetralogy of Fallot (TOF) is one of the most common types of CHD, with 1200 new cases each year in the U.S. The majority of patients survive the initial surgical repair, however, patients experience early mortality resulting from residual lesions such that adults with TOF have four times the risk of death compared to those without CHD. Over time, right ventricular dysfunction may develop making it difficult for the right ventricle to properly pump blood into the lungs. The right ventricular dilation is thought to be a primary reason for the poor exercise tolerance, rhythm disturbances, risk of sudden death, and diminished quality of life seen in this patient population. The goal of the study is to (1) confirm the association of RV fibrosis with RV function suggested by other studies, and (2) identify genetic factors that modulate the degree of fibrosis in the right ventricle in the patient with TOF so that the at-risk population may be identified and test therapies that may decrease the degree of fibrosis to decrease associated morbidities and improve clinical outcomes.
|2014||$48,423||Boston Children’s Hospital||Boston, MA|
|Jean Anne Connor, PhD, RN, CPNP
“Consortium for Congenital Cardiac Care Measurement of Nursing Practice (C4-MNP)”
While it takes a team of medical professionals to care for a child, nurses represent the single largest provider pf inpatient care and can have a drastic impact on patient outcomes. Yet little has been studied about their positive contribution, and significant variation in patient outcomes continues to exist. The purpose of the consortium is to establish a national standard for pediatric cardiovascular nursing measurement, with the goal of benchmarking nursing care activities that contribute to improved patient outcomes in a highly complex environment and population of patients.
|2014||$15,000||Icahn School of Medicine||New York, NY|
|Kanwal M. Farooqi, MD
“Creation and Validation of Low Cost 3D Cardiac Models from MRI in Patients with Congenital Heart Disease”
3D printing offers the possibility of creating physical replicas of the heart, coming as close as possible to holding the patient’s heart in one’s hand prior to the operating room. Use of these 3D cardiac models allows a cardiologist to communicate a patients’ congenital heart defect by simply demonstrating a physical replica. However, many of the techniques used can been improved upon to produce better 3D models for visualization of intra-cardiac anatomy, and may be performed in a more cost effective manner. This study aims to establish imaging protocols to optimize the usage of this technology and address its feasibility for cost effectiveness so it can be routinely implemented in a clinical setting. By demonstrating the creation of these models on a low cost 3D printer, this study will validate measurements made on the models using measurements from the original cardiac MRI for comparison.
|2013||$50,000||Children’s Hospital of Philadelphia||Philadelphia, PA|
|Francis X. McGowan, Jr., MD; Matthew J. Gillespie, MD
“Cell-based Rescue of Ventricular Failure in Congenital Heart Disease”
Over time, endogenous cardiac stem cell are progressively injured and depleted as heart failure develops in patients with congenital heart disease. These cells, normally resident in the heart, can help restore heart muscle and blood vessels and stimulate supply substances needed for limiting damage to the heart and enhancing its repair. These cardiac-directed stem cells can be safely and effectively isolated from small samples of a congenital cardiac patient’s own tissues. This will allow for their numbers to be increased and their properties manipulated in the laboratory, leading to administration back into the heart and resulting in significant improvement in the cardiac dysfunction and reversal of the pathologic remodeling that are the hallmarks of fatal heart failure.
|2013||$5,000||Cohen Children’s Medical Center of New York||New York, NY|
|Rubin S. Cooper, MD
“Echocardiographic Assessment of Right Ventricular Function Using Speckle Tracking Imagine (STI) Technology Compared to Cardiac Magnetic Resonance Imaging (MRI)”
Currently, cardiac MRI is the gold standard to assess ventricular function. This is a laborious, time consuming and expensive modality of imaging. If the same information regarding heart function can be obtained with echocardiogram using STI then this will be a cost effective method.
|2012||$50,000||Children’s Hospital at Montefiore||New York, NY|
|Nadine Choueiter, MD; Robert H. Pass, MD
This study investigates how well cardiac MRI predicts the coronary artery anatomy in Tetralogy of Fallot patients who are undergoing the new MELODY valve implantation, which is a relatively new procedure that allows an alternative to traditional open-heart pulmonary valve replacement. The MELODY valve is placed using a catheter that is guided into the heart from a vein in the leg or neck, eliminating the open-heart surgery normally used, which is much more invasive and dangerous.
|2011||$50,000||Children’s Hospital of Philadelphia||Philadelphia, PA|
|Jack Rychik, MD; Kathryn M. Dodds, RN, MSN, CRNP
“Single Ventricle Survivorship Program”
Improving the quality of life and finding new treatments for patients with single ventricle heart defects is one of the most pressing challenges in pediatric cardiology. The Single Ventricle Survivorship Program was created to focus attention on the challenges faced by these patients and to help improve quality and duration of life. While many patients lead highly functional and active lives after single ventricle surgery in childhood, there are, however, certain health problems, not limited to the heart, being recognized with increasing frequency.
More about the selection process: Applications are received every year from the top institutions throughout the United States who perform CHD-related research. The CHD Coalition’s Research Grant Committee — comprised of CHD Board Members, cardiologists, a pediatric cardiology nurse, parents of children with CHDs, and adults with a CHD — performed an exhaustive multi-staged review process. If you would like more specific details regarding the research process, please contact email@example.com.