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Cardiology Research

Our scientific discovery efforts are supported by the Heart Center Research Core, a multidisciplinary team that supports significant and innovative clinical, translational and basic research.

Review our recent publications

We’re conducting ongoing studies that concern:

  • The underlying causes of heart failure
  • Using patients’ own cells to correct life-threatening conditions
  • Novel therapies to improve neurodevelopmental outcomes and treat neurodevelopmental issues in congenital heart disease survivors
  • Transitional care from adolescence to adulthood for high-risk cardiovascular patients
  • Novel aortic valve and aorta imaging
  • Pioneering new therapies for patients with Marfan syndrome
  • Genetic origins of sudden cardiac arrest

Current Studies


“Development of a Blood Test for Marfan Syndrome,” Dr. Joseph Camarda: Marfan Syndrome is a relatively common inherited disorder of connective tissue caused by mutations in the gene for fibrillin-1. In this study, we hope to learn more about early heart disease in people with Marfan syndrome and other related diseases. We will do this by looking at blood samples to determine whether there are differences in certain proteins that reflect the genes of people with and without these disorders.

“Do Serum Biochemical and Hematopoietic, or Stool Biomarkers Predict Low Cardiac Index in Patients with Fontan Physiology?” Dr. Bradley S. Marino: Patients with univentricular hearts who have undergone Fontan palliations suffer from a chronically depressed cardiac index (CI) that often worsens over time and leads to chronic heart failure. Those with “failing Fontan” physiology are unable to generate appropriate cardiac output to the vital organs and have multisystem organ dysfunction. The ability to identify low CI with biomarkers from other organs prior to clinical manifestations of “failing Fontan” physiology is critically important to allow for earlier intervention to augment CI. The purpose of this research study is to discover whether chemical markers in blood, urine and stool can serve as an early indicator for worsening heart function in patients who have had a Fontan procedure. This is an important step toward developing interventions to improve quality of life and overall functioning in individuals with univentricular hearts.

 Non-Invasive Cardiac Imaging

4D MRI Research: The multidisciplinary MR/CT program is investigating ways to reduce MR imaging exam time and minimize anesthesia or sedation used during imaging exams. In the multiyear NIH/NHLBI-funded study, Functional Cardiovascular 4D MRI in Congenital Heart Disease, Lurie Children's cardiologists and radiologists are collaborating with Northwestern bioengineers to develop a comprehensive 20-minute 4D MR exam that might replace the standard 60- to 90-minute MRI protocol. In addition to studying how the new technique may reduce exposure to anesthesia, the team is investigating how 4D visualization of complex blood flow dynamics may predict progression of cardiovascular disease.


“Cardiovascular Research Database,” Dr. Bradley S. Marino: The purpose of this project is to allow scientists to review and collect medical information — including symptoms, complications and treatments — in patients with certain types of heart disease. By collecting long-term health results on our patients, we can conduct outcomes research to gain evidence about which treatments work best for each individual patient and better understand how different kinds of heart disease evolve over time. Outcomes research provides our healthcare professionals with evidence about benefits, risks and results of treatments that can be used to continually improve the quality of care we provide to our patients.

“Interagency Registry for Mechanically Assisted Circulatory Support (INTERMACS),” Dr. Philip T. Thrush: Lurie Children’s participates in the pediatric portion of the INTERMACs registry called Pedimacs. This registry gathers clinical and laboratory information on patients that receive ventricular-assist devices/mechanical circulatory support devices for end-stage heart failure. We are one of 167 active sites and 20,917 subjects enrolled study-wide. The registry analyzes clinical and laboratory data from patients who are receiving MCSDs for end-stage heart failure as well as their outcomes following implantation of legally utilized MCSDs. These results are expected to facilitate clinical evaluation and patient management while aiding better device development.

“Improving Pediatric and Adult Congenital Treatment (IMPACT) Registry,” Dr. David Wax: Improvements in medicine and new surgical procedures over the last 30 years have resulted in an increasing number of pediatric congenital heart disease patients surviving into adulthood. It is estimated that 50 percent of pediatric patients diagnosed with congenital heart disease undergo corrective treatment in their first year of life. Results of surgical procedures are tracked in registries and have shown valuable trends in delivery of care. There are no such catheterization registries and, as a result, the outcomes and variability of these has not been monitored. This study aims to collect data on children and adults with congenital heart disease (CHD) who are undergoing a cardiac catheterization. The collection and analysis of the data collected will be used to learn more and improve treatment of CHD.

“Pediatric Cardiac Critical Care Consortium (PC4),” Dr. John Costello: PC4 aims to improve the quality of care for patients with critical pediatric and congenital cardiovascular disease in North America and abroad. Formed in 2009 with National Institutes of Health funding, PC4 is a unique collaborative of leaders in pediatric cardiac critical care, cardiac surgery and cardiology representing a diverse group of centers caring for these vulnerable patients. The core pillars of collaborative quality improvement serve as the foundation for PC4: purposeful collection of specific clinical data on outcomes and practice, timely performance feedback to clinicians and continuous improvement based on empirical analysis and collaborative learning. PC4 will be an international leader in the effort to improve care to critically ill patients with pediatric and congenital heart disease. Dr. Costello serves on the executive committee of PC4.

 Neurocognitive and Neurodevelopmental Cardiology

“Neurocognitive Function of Adolescents and Young Adults with Repaired Complex Congenital Heart Disease after Recent Cardiac Re-interventions: A Pilot Study,” Dr. Bradley S. Marino: This study, led by the University of Michigan, is being done to better understand the neurocognitive outcomes (specifically related to things like memory, attention, problem solving, language and emotion) in adolescents and young adults with complex congenital heart disease. This investigation will help us better understand how neurocognitive function (memory, attention, problem solving, language and emotion) changes with time. Through this study, we will begin to identify clinical factors that influence long-term neuro cognition in patients requiring catheter and surgical operations during adolescence and early childhood.

“National Pediatric Cardiology Quality Improvement Collaborative (NPC-QIC) – A Collaborative Initiative to Improve Care of Children with Complex Congenital Heart Disease,” Dr. George Verghese: The purpose of this study is to collect data on infants with single ventricles, such as patients with Hypoplastic Left Heart Syndrome, a condition where the left side of the heart is critically underdeveloped. Multiple institutions in the United States will be collecting data on patients with single ventricles to create a database that will ultimately improve care and outcomes. Data will be collected on patients who have undergone the Norwood procedure and information related to their plan of care, nutrition and outcome following the Glenn procedure will be collected. The information will be analyzed and used to help create evidence-based guidelines for the treatment and care of these patients and to improve said treatments and subsequent outcomes for these patients.

 Perinatal Cardiology

“Perinatal Cardiac Database,” Dr. Nina Gotteiner: The goal of this study is to develop a database of pre- and post-natal cardiac evaluations to learn more about fetal echocardiograms and fetal abnormality diagnosis. The data collected from the fetal echocardiogram will be used by Lurie Children’s cardiology physicians to ensure that the fetal diagnoses are accurate when compared to babies’ echocardiogram heart diagnosis after birth. The database will help physicians determine areas for improvement in care and diagnosis for mothers and their children born with different congenital heart diseases.

 Heart Transplant/Failure

“Pediatric Heart Transplant Study (PHTS),” Dr. Elfriede Pahl: PHTS is a multicenter, event-driven study that was initiated by the University of Alabama at Birmingham on Jan. 1, 1993, to examine the risk factors and outcome events following listing of a patient for a pediatric cardiac transplantation. The goal is to advance our state of knowledge and to disseminate this information via presentations at national meetings and by generating manuscripts for publication in peer-reviewed journals. By utilizing 17 different standardized questionnaires, outcomes data is collected at 52 transplant centers across the country for the purpose of determining risk factors and combining experience to improve the outcomes of heart transplantation. This dataset will also allow hospitals, including Lurie Children’s, to monitor performance on quality metrics surrounding heart transplantation. It can also serve as the core for the quality-improvement within the Heart Center for these patients.

“Quantitative Detection of Circulating Donor-Specific DNA in Heart Transplant Recipients,” Dr. Elfriede Pahl: Early detection of rejection is a major focus of organ transplant care. Detection of donor DNA after transplantation has been proposed as a means of detecting acute rejection in for heart transplant patients. In a pilot study, and in the on-going multicenter study, a proprietary approach has been applied to quantifying donor specific cell free DNA present in transplant recipient’s plasma, with high temporal resolution surrounding the time of transplant surgery as well as during episodes of rejection, in contrast to baseline levels from blood obtained at time of routine surveillance biopsies. The purpose of this study is to evaluate and continue to develop a non-invasive method of detection of transplant rejection by isolating donor specific DNA in plasma of organ transplant patients.

 Quality of Life

Pediatric Cardiac Quality of Life Inventory (PCQLI), Dr. Gregory R. Webster, MD, MPH: The risks and benefits of mild, moderate or vigorous exercise for hypertrophic cardiomyopathy (HCM) or long QT syndrome (LQTS) patients remain unknown, though many of these patients are prescribed exercise restrictions from their physicians. LIVE-HCM/LQTS is designed to determine how exercise and other lifestyle choices affect the well-being of people living with HCM and LQTS. Knowledge gained from this study may help people with HCM or LQTS in the future to decide what type of activities to participate in, and how clinicians may better advise their patients about exercise.

 Preventive Cardiology

CASCADE Familial Hypercholesterolemia (FH) Registry, Dr. Irwin Benuck: FH is one of the most common life-threatening family disorders. Individuals with FH remain vastly underdiagnosed and undertreated and are at an increased risk for heart disease and heart attacks at a young age. However, FH is manageable with the right care. The FH Foundation is a patient-centered nonprofit organization dedicated to education, advocacy and research of FH. The FH Foundation has launched a national FH patient registry, the CASCADE FH Registry. This study is designed to collect comprehensive data on individuals with confirmed or suspected FH on a longitudinal basis. The CASCADE FH Registry will serve as a key instrument to support health service planning, increase knowledge on the disorder and pool data for epidemiological, clinical and outcomes research, as well as for surveillance of therapy effectiveness. To date, we have enrolled over 58 FH patients in the registry.

 Bridge Program/BAV

For many patients, the transition from pediatric to adult care can be confusing and overwhelming. Lurie Children’s Heart Center and the Bluhm Cardiovascular Institute at Northwestern Medicine have partnered to launch a first-of-its-kind program to help guide adolescents during the transition years. Transition refers to all of the planning, preparation and skill building that leads up to and surrounds the actual transfer of care, including choosing a new physician, transferring medical records, communicating treatment histories and navigating insurance coverage  The Cardiovascular Bridge programs are designed as a partnership between the patient, family, pediatric and adult cardiac providers to successfully bridge the medical needs of young patients with heart disease. 

The first Cardiovascular Bridge Program has successfully launched for patients 16 to 26 years old with bicuspid aortic valve disease and aortopathy. Additional programs will be developed in coming years, expanding services to cardiomyopathy, adult congenital heart disease, transplant/extracorporeal support and preventive cardiovascular medicine. A fundamental aspect of the program is the specialty clinics designed to bring pediatric and adult cardiologists, nurses and other healthcare professionals together in a single setting, allowing young patients to start building relationships with the adult healthcare team they will continue to see in the future. The main goals of the program are to:

  • Increase understanding of their condition
  • Identify and address individual barriers to transition
  • Learn to navigate the adult healthcare system and insurance needs
  • Become more involved and independent in their healthcare
  • Develop relationships and learn to communicate with adult providers
  • Develop skills necessary to be successful in future

Another significant aspect of the programs is to understand and optimize clinical outcomes for these high-risk cardiac populations through research. Lurie Children's Heart Center Research Core and the Bluhm Clinical Trials Unit have joined resources to coordinate research efforts across a patient’s lifespan from childhood, through adolescence and young adulthood, into adulthood. These research endeavors will help guide the best courses of care for a patient and give physician-scientists opportunities to better understand the natural history and mechanisms of heart disease.

For more information regarding the Cardiovascular Bridge Program, please e-mail or call 312-227-4641.

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