Research Fuels Progress

ACHA Research Grants

2026:

ACHA Research Grant Award

• Genomic and Transcriptomic Characterization of Hepatocellular Carcinoma in Fontan-Associated Liver Disease, Kelley Weinfurtner, MD, MSTR, and Yuli Kim, MD, Perelman School of Medicine at the University of Pennsylvania
• Remote Physiologic Phenotyping of Fontan Hemodynamics and Circulatory Reserve, Bryan Mosher, MD, PhD; Daniel Clark, MD, MPH; Sheng Xu, PhD; and Euan Ashley, MD, PhD, Stanford University

Meil Family Foundation Research Award for Neurocognitive Studies

• Literacy Skills in Adults with Congenital Heart Disease and the Impact on Health Literacy and Quality of Life, Angela Weingarten, MD, MSCI; Andrew Well, MD, MPH, MSHCT; Althea Wroblewski, PhD; and Emily Pendergrass, PhD, Vanderbilt University Medical Center

2025:

ACHA Research Grant Award

• Deep Learning Electrocardiography and Cardiopulmonary Exercise Testing to Advance Precision Care for Adults with Congenital Heart Disease, David M. Leone, MD, Alexander (Sasha) Opotowsky, MD, MMsc, Brian Connolly, PhD, and Elanchezhian Somasundaram, PhD, Cincinnati Children’s Hospital Medical Center/University of Cincinnati
• Molecular and Functional Signatures of Exercise Response in Adult Congenital Heart Disease: Linking Omics, Phenotypes, and the Heart-Brain Axis, Bryan Mosher, MD, PhD, George Lui, MD, Joseph Wu, MD, PhD, and Euan Ashley, MB ChB, FRCP, DPhil, Stanford University
• Telehealth-Based Cardiac Rehabilitation in Adults with Fontan Circulation: A Prospective Pilot Study, Ayesha Salahuddin, MD, Anushree Agarwal, MD, MAS, Alexis Beatty, MD, and Aarthi Sabanayagam, MD, University of California San Francisco

Meil Family Foundation Research Award for Neurocognitive Studies

• Resilience Assessment of Hospitalized Adults with Congenital Heart Disease, Jill M. Steiner, MD, MS, FACC, and Jessica King, RN, BSN, University of Washington

2024:

ACHA Research Grant Award

• Understanding Peripartum Arrhythmia in Women with Congenital Heart Disease, Nicole Herrick, MD (Fellow) and Anushree Agarwal, MD (Board Certified ACHD Provider), University of California San Francisco
  • Peripartum arrhythmia risk in ACHD extends through pregnancy and postpartum and spans the full spectrum of CHD severity. Prior arrhythmia and greater CHD severity are consistently associated with increased odds of arrhythmia during and after pregnancy, while heart failure demonstrates a significant association specifically during pregnancy. These findings underscore the importance of preconception counseling and expectation setting, particularly for women with a history of arrhythmia, to inform individualized risk stratification and management throughout pregnancy.

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Pulmonary Vascular Disease Award, funded in part by Johnson & Johnson

• Investigating the Genes Involved in Pulmonary Arterial Hypertension in Congenital Heart Disease, Continued, Kali Hopkins, MD (graduated ACHD fellowship in 2024) and Maria Trivieri, MD (Medical director of the Pulmonary Hypertension Program at Mount Sinai) 
  • Congenital heart disease (CHD) can manifest in a variety of ways, ranging from simple lesions to complex defects that require major surgeries. Advances in pediatric cardiology and cardiac surgery have provided extraordinary opportunities for children with severe CHD, with the majority now surviving into adulthood. However, a major long-term complication of CHD that is still prevalent today is pulmonary arterial hypertension (PAH). PAH is a progressive disease characterized by chronically elevated blood pressure in the pulmonary vasculature leading to right ventricular hypertrophy, heart failure, and premature death. PAH can occur in patients with repaired or unrepaired CHD, and studies have shown that as much as 10% of adult CHD patients are at risk. This study looked at how both common and very rare genetic changes may increase a person’s risk of developing PAH. Researchers found that people with a higher number of certain common gene variations, as well as those with rare harmful mutations, were more likely to have the disease. These findings suggest that looking at a combination of genetic factors may help better understand and predict who is at risk for PAH.

Meil Family Foundation Research Award for Neurocognitive Studies

• Psychological trauma and post-traumatic stress disorder in adults with congenital heart disease: What is the scope of the problem? David Harrison, MD (graduated ACHD fellowship in 2023), Jamie Jackson, PhD (MAC Member), Anitha John, MD, PhD (Board Certified ACHD Provider and MAC member) 
  • Dr. David Harrison is working with the Congenital Heart Initiative to recruit members. If you are a patient living with ACHD, learn more about enrolling in the registry.

2023:

ACHA Research Grant Awards

• In Silico Evaluation of a Dual-Impeller Single-Drive Fontan Circulation Assist Device, Christopher Broda, MD, Adult Congenital Heart Disease Program at Texas Children's Hospital/Baylor College of Medicine; and co-investigators Yaxin Wang, PhD, and Katharine Fraser, MPhys, PhD
  • Fontan Circulation is the desired treatment for all patients born with single-ventricle lesions, in which blood returns to the lungs without the support from the heart. Though lifesaving, this alteration in blood flow and heart physiology comes at a cost and negatively affects many of the body’s organ systems over time. Efforts thus far have resulted in abstracts/publications included at the European Society for Artificial Organs annual meeting in 2025, two presentations at the American Society for Artificial Internal Organs annual meeting in 2024, and a presentation at the IEEE Engineering in Medicine & Biology Society annual meeting in 2023. There are two critical remaining experiments that need to be completed to give this research project the likelihood of obtaining large grant funding (NIH/NHLBI R01) focusing in 2026. This study is part of the ongoing effort to develop long-term, implantable mechanical circulatory support for the growing population of adults with CHD suffering from failing Fontan circulation.
  • Dr. Christopher Broda was a presenter at the ACHA Research Symposium in 2025.
• Leveraging Wearable Technologies for Arrhythmia Detection in Adults with Congenital Heart Disease – The ACHD Apple Watch Study, Brynn Connor, MD, ACHD Fellow, ACHD Program at Stanford University and Scott Ceresnak, MD, Director of Pediatric Electrophysiology, Stanford University
  • This study aimed to address the high incidence of heart rhythm abnormalities, which are a leading cause of adverse outcomes in ACHD patients, by evaluating the accuracy and utility of consumer-grade wearable tech devices, specifically the Apple Watch. Early data indicates that in patients with tachyarrhythmia, roughly 79% of Apple Watch ECG recordings were deemed good or excellent in quality. This research is critical because most wearable studies have focused on structurally normal hearts, leaving a gap for those with repaired or palliated CHD. This study aims to revolutionize ACHD care by providing long-term, patient-driven monitoring of arrhythmias that are often intermittent and asymptomatic. 

Pulmonary Vascular Disease Award, funded in part by Johnson & Johnson

• Investigating the Genes Involved in Pulmonary Arterial Hypertension in Congenital Heart Disease, Kali Hopkins, MD, Adult Congenital Heart Disease Fellow with the ACHD Program at Mount Sinai and Maria Giovanna Trivieri, MD, PhD, Director of the Pulmonary Hypertension Program at Icahn School of Medicine at Mount Sinai
  • Pulmonary arterial hypertension (PAH) is a rare but devastating disease caused by adverse remodeling of the pulmonary vasculature, leading to elevated pressure in the pulmonary vascular bed and eventually right heart failure. Rare genetic mutations are known to cause PAH; additionally, common variants have been shown to contribute, though with little validation data, and ultra-rare variants have yet to be studied. This study aimed to investigate both common and ultra-rare variant contributions to PAH. Using published summary statistics, the research team created a polygenic risk score (PRS) of PAH risk using common variants. They identified participants in the UK Biobank (UKB) with PAH using International Classification of Diseases codes and then associated this PRS with their PAH status (case or control). To determine if ultra-rare (UR) variants collectively were associated with PAH risk, they then selected genes routinely tested in standard genetic panels and mapped known deleterious mutations in those genes (loss-of-function and missense variants) using the ClinVar database and Ensembl Variant Effect Predictor. In the UKB, 1,717 PAH cases and 328,539 controls (non PAH) were identified. Both common and UR deleterious variants influence the genetic risk for PAH. Together, they may shape overall disease risk, highlighting the need for integrated genetic approaches. 

Meil Family Foundation Research Award for Neurocognitive Studies

• The recipients of this award are Adam R. Cassidy, PhD, LP, ABPP (Mayo Clinic), and Michelle Gurvitz, MD, MS (Boston Children’s Hospital/Brigham and Women’s Hospital). ACHA will work with Drs. Cassidy and Gurvitz, along with leading experts from the Cardiac Neurodevelopmental Outcome Collaborative (CNOC), ACHD providers, patients, and family members, to convene a conference in early 2024.
  • Dr. Michelle Gurvitz was a presenter at the ACHA Research Symposium in 2025.

2022:

ACHA Research Grant Awards

• REHAB Fontan Failure: RCT of the Effects of cardiac reHABilitation versus Tadalafil Among Patients with Fontan Failure, Jonathan Menachem, MD, and Daniel Clark, MD, MPH, Vanderbilt University, Nashville, TN
  • There were two groups, a group that was focused on exercise and the use of... Participants were referred to a 12-week program (three sessions/week), which could be in-person, hybrid, or entirely virtual, focusing on exercise training.
  • There is a clinical trial currently underway based off of the initial study. 

Learn more about the clinical trial

• Impact of a Home-Based Healthy Lifestyle Program on Body Composition and Exercise Capacity in Adult Congenital Heart Disease Patients with Heart Failure, Tracey Crooks, MD, and Salil Ginde, MD, Medical College of Wisconsin, Milwaukee, WI
  • Since 2019, the ACHD program has implemented a nurse-led, 12-week home-based healthy lifestyle program. This program often incorporates telehealth, dietary modifications, and physical activity, which significantly improves exercise capacity and body composition in adult congenital heart disease (ACHD) patients with heart failure. Each patient enrolled in this program received a pedometer to track their steps. Such programs are safe, feasible, and effective alternatives to hospital-based rehab, addressing the exercise intolerance and reduced muscle mass, which may be common in this population. Preliminary results show that 26 patients completed the program. Patients increased their step count to an average of 1,371 steps and saw an average weight loss of 10.6 pounds during the program. This type of exercise can be a viable long-term strategy for ACHD patients. 
  • Dr. Tracey Crooks was a presenter at the ACHA Research Symposium in 2025.
• Validating a Patient-Reported Outcomes Tool in Adults with Congenital Heart Disease, R. Thomas Collins II, MD, Alexander Sandhu, MD, and Jennifer Woo, MD, Stanford University, Stanford, CA
  • The goal of this study was to see whether a questionnaire patients fill out about how they feel and function in daily life (the Kansas City Cardiomyopathy Questionnaire [KCCQ]) accurately reflects how well their heart is working. Researchers compared patients’ survey answers with medical test results that measure heart strength and physical ability in adults with congenital heart disease and heart failure. Early results suggested that how patients say they feel (based on the KCCQ questionnaire) somewhat correlates certain medical measures of heart function, like how well the heart pumps and how severe their symptoms are. However, the questionnaire shows no correlation between the KCCQ scores and from peak VO2 testing. To better understand this mismatch, the researchers plan to take a closer look at how patients rate their physical limitations and compare that with fitness test results, while also considering the specific type of heart condition each patient has.

Meil Family Foundation Research Award for Neurocognitive Studies

• Exploring Mind Body Resilience and Coping/Cognitive Exercises-(EMBRACE): A Psychoeducational Intervention for Adult Congenital Heart Disease, a Randomized Control Trial, Vicki Freedenberg, PhD, RN, Children’s National Hospital, Washington, D.C.
  • The EMBRACE study evaluated a virtual, mindfulness-based behavioral intervention (MBBI) designed specifically for adults with CHD, a population with high rates of anxiety and depression. The study aimed to determine whether such a tailored intervention could improve mental health, resilience, and coping skills. A total of 41 eligible participants were randomized into three staggered groups: one received the intervention immediately, and two others received standard care before later participating in the program. The intervention was delivered over six weeks via real-time virtual sessions led by a multidisciplinary team experienced in CHD and mindfulness practices. Satisfaction with the overall program was high, and qualitative feedback was overwhelmingly positive. The study demonstrates that ACHD-specific mindfulness interventions can have a meaningful impact on psychological well-being. While the results are promising, the researchers note that further studies are needed to evaluate the long-term effectiveness and sustainability of the intervention. The EMBRACE program was also designed to be replicable in other institutions, allowing for broader testing and potential expansion. 

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"This generous grant from the Meil Family Foundation and the ACHA allowed our group to design, deliver, and test a novel mindfulness-based intervention with the goal of reducing stress and improving coping and resilience in adults with congenital heart disease. Our novel approach of delivering the ACHD-specific EMBRACE intervention virtually (in real time) was an innovative feature of this intervention which allowed the participants to engage in the intervention from wherever they were."—Dr. Vicki Freedenberg

2021:

• Intrahepatic Transcriptomics Discriminate Advanced Fibrosis in Patients with the Fontan Circulation, Katia Bravo-Jaimes, MD, Ahmanson/UCLA Adult Congenital Heart Disease Center, Los Angeles, CA
  • The most complex forms of CHD include having a single chamber to pump blood to the rest of the body. This study aimed to assess differences regarding gene activity within the liver among patients with Fontan-associated liver disease according to the degree of liver fibrosis and clinical outcomes. A total of 106 patients were included in this study. In adults with Fontan circulation, liver disease is linked to increased activity of genes involved in inflammation, congestion, and blood vessel growth. While advanced fibrosis alone did not predict clinical outcomes, distinct gene patterns were seen in patients with worse outcomes. These findings help clarify the biological processes driving Fontan-associated liver disease and may guide future research and treatment strategies.
  • Received the Best Paper on ACHD from the 16th European Meeting on Adult Congenital Heart Disease EuroACHD 2025.

Read the publication

• Renal Functional Reserve in Adults with a Fontan Circulation, Adam Lubert, MD, Adult Congenital Heart Disease Program at Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
  • People who have had a Fontan procedure often develop kidney problems. This study looked at how well the kidneys can “step up” their function when needed by measuring changes after drinking a high-protein shake. By comparing these results to healthy adults, researchers aim to see who may be at higher risk for future kidney disease.  This study successfully enrolled eight patients, all of whom have completed the study. The providers screened 113 patients for eligibility, but the enrollment was slower than anticipated for a couple of reasons. The study requires that patients have an IV placed, which has deterred many from wanting to participate. Additionally, there had also been a push at to have patients with Fontan circulation also get frequent exercise testing. Vigorous exercise can affect blood markers of kidney function, so patients who have an exercise test performed on the day of their visit were not eligible to participate in the study. This study found that people with Fontan circulation, higher pressures can cause the liver to become enlarged. Researchers looked at whether a larger liver, measured by MRI, is linked to worse heart-related outcomes. Researchers found that simply measuring liver size may help identify patients at higher risk and this may continue to guide their care.
• Novel Remotely-Monitored Home-Based Cardiac Physical Activity Program Using Real-Time Data for Patients with Fontan Circulation, Prashob Porayette, MBBS, MS, University of Iowa Adult Congenital Heart Disease Program, Iowa City, IA
• Our Care Wishes – Adults with Congenital Heart Disease (OCW-ACHD), Lynda Tobin, CRNP, and Yuli Kim, MD, Philadelphia Adult Congenital Heart Center, Penn Medicine, Philadelphia, PA
  • Most people born with CHD now live into adulthood, which is a major improvement. However, many still face serious long-term health issues. Despite these risks, adults with CHD have shared that they have never talked about their wishes for medical care at the end of life. Because of this, they are more likely to receive intensive treatments in the hospital rather than care focused on comfort. Advance care planning is the process of thinking about and documenting what kind of care you would want if you became very ill, including choosing someone to make decisions for you. Having these conversations early can improve quality of life and ensure that the care matches a person’s wishes. Although patients and doctors agree these discussions are important, they often don’t happen—partly because there aren’t tools designed specifically for this group. This project aimed to adapt an existing online planning tool to better meet the needs of adults with congenital heart disease, with the goal of helping more patients understand their options and communicate their preferences. This document was previously embedded within Penn Medicine and uses plain language to help patients define their quality-of-life goals. The information has been added to the patients’ electronic health record, and it allows the user to create a “Care Circle” to share their wishes with family members and other providers.  While the overall Our Care Wishes platform has been retired, many of the documents created are still being used and shared with other ACHD programs.

2019:

Click on the researchers' names below for a video to learn more about each project, and on the study title for more information.

• Dr. Nael Aldweib: Serial C-Reactive Protein Measurements to Predict Clinical Events in Adults with Congenital Heart Disease
  • Adults with congenital heart disease (ACHD) who have chronic low-level inflammation, indicated by elevated high-sensitivity C-reactive protein (hsCRP) in the blood, are more likely to have adverse clinical outcomes. This study examined how cardiac biomarkers change in adults with CHD who have been hospitalized for acute decompensated heart failure and whether these changes are relate to symptoms or outcomes. The study found that found that certain biomarkers generally decreased during hospitalization alongside clinical improvement. However, changes in certain biomarkers after discharge did not reliably predict risk of rehospitalization or other acute issues. Overall, the findings suggest biomarkers respond to treatment but have limited short-term ability to provide value post-discharge, highlighting the need for further research.

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• Dr. Valeria E. Duarte: Improving Pregnancy Outcomes in Women with Tetralogy of Fallot 
  • Most women with repaired tetralogy of Fallot (rTOF) reach childbearing age and seek counseling regarding the consequences of pregnancy on their health and the health of their offspring. However, there is very little data to guide clinicians in the risk-assessment of these women. The data that is available is mainly focused on the immediate risks during pregnancy, and the long-term effects of the heart sustaining the increased workload during pregnancy is unknown. The aim of this study was to look at the changes in the left ventricular (LV) strain in women with rTOF during pregnancy and during the postpartum period. Overall, 16 women and 17 pregnancies were analyzed (one subject had two pregnancies included). This study found that the LV strain was increased in the third trimester compared to postpartum. This study showed that while changes in LV mechanics do occur in pregnant women with rTOF, these alterations are neither adverse nor sustained during a follow-up timeframe. Further studies examining the unique physiologic changes of pregnancy and the effects of these hemodynamic changes on ventricular mechanics in women with CHD will lead to improved counseling and management of this growing population.

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• Dr. Richard A. Krasuski: Peer Coaching Adaptive Self-Management Interventions for Young Adults with Congenital Heart Disease (CHASM IN ACHD)
  • The Duke Peer Coaching Adaptive Self-Management Interventions for Young Adults with Congenital Heart Disease (CHASM in ACHD) was a pilot randomized controlled trial to evaluate the acceptability, feasibility, and efficacy of a six-month peer coaching intervention for adolescents and young adults (AYA 18-26 years of age). There were a total of 31 YAY who were randomized to be part of the education and six-month coaching or education only, and they all successfully completed the study. All coaches, where were young adults with CHD, received 50 hours of initial training followed by ongoing supervision. Coaching sessions occurred weekly for the first month, then bi-weekly for months 2-6 and would include support via phone and text messages. Peer coach mentoring transition-aged patients with CHD can be safely implemented in addition to appropriate education and improved self-management skills and may result in more successful patient transition/transfer of care and less loss to follow-up care. Larger studies should be performed to identify which patients may best benefit from this intervention.

Learn more about the clinical trial

• Dr. Matthew Lewis: Patient Centered Research Models to Diagnose and Treat Anxiety Disorders in Adult Congenital Heart Disease: A Pilot Pragmatic Clinical Trial 
  • Dr. Matthew Lewis worked collaboratively with the Congenital Heart Initiative through this research project to recruit patients. The goal was to focus on validating digital tools, reducing mental health stigma, and testing internet-based treatment to improve quality of life. As a result of CHD patients often going through multiple surgeries or interventions while they were growing up, there is a correlation between chronic disease and anxiety in adults. Dr. Lewis was focusing on online cognitive behavioral therapy (CBT) to see if the skills learned would help those with ACHD, as CBT has been shown to help reduce anxiety in the general population. 
• Dr. Carla P. Rodriguez-Monserrate: Cognitive Impairments in Adult CHD Patients 
  • The most common comorbidities in children with CHD are neurodevelopmental impairments, particularly in areas of executive function, memory, and attention. Limited studies have demonstrated similar impairments in CHD adults, although no studies have screened specifically for mild cognitive impairment and dementia. This study is the first to evaluate a middle-aged cohort of ACHD patients with a specific dementia screening test. This study concluded that the findings suggest that early cognitive changes are present in those that participated in this research project, and that additional early screenings and early intervention would be ideal in this population. 

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"During my adult congenital heart disease (ACHD) training, I was awarded an ACHA Research Grant that enabled me to study cognitive impairment in adults with congenita heart disease (CHD). Adults with CHD are at risk for developing cognitive impairment, and as this population ages, there is concern that normal aging will compound these underlying cognitive impairments and adversely affect psychosocial outcomes and quality of life. There is a substantial need to understand the relationship between CHD and neurocognitive outcomes in the growing population of adults with CHD. As a young investigator, the ACHA Research Award strengthened my skills to conduct high quality research and gave me the opportunity to advance clinical care for ACHD patients."—Dr. Carla Rodriguez-Monserrate

• Dr. Jill Steiner: Strategies for the Successful Adaption of the PRISM (Promoting Resilience in Stress Management) Intervention to Promote Resilience for Patients with Adult Congenital Heart Disease 
  • The study looked at adults who were born with CHD and are now living and meeting with providers as outpatients. Many of these patients struggle not just physically, but also with stress, anxiety, and overall mental well-being. Researchers wanted to test whether a “resilience-building” program, designed to help train ACHD patients to cope better with stress and other challenges, could help improve their quality of life. The patients were randomly selected for the resilience program. The results showed that the resilience program helped improve psychological well-being and that teaching these coping strategies can make patients’ lives better overall. Traditional care focuses on the physical heart problem, but this study shows that mental and emotional support is critical as a part of routine care to improve the overall quality of life. 

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