Utilizing PCORnet to Reduce Gaps in Care and Improve Long-Term Outcomes in Adults with CHD


Congenital heart defects (CHDs) are a heterogeneous group of rare diseases of varying severity, each diagnosis with its unique set of co-morbidities1. The various subtypes are often classified to complex and non-complex. This proposal focuses on various types of non-complex and complex CHD (ie, transposition of the great arteries, tetralogy of Fallot, hypoplastic left heart syndrome, mitral atresia, pulmonary atresia, right ventricular hypoplasia, and tricuspid atresia), each of which are classified as a rare disease per PCORI guidelines (<200,000). Often, the designations of non-complex and complex result in similar groupings of outcomes and care plans, despite the various subtypes representing distinct disease entities.

Research Questions/Background: 

Due to tremendous advances in diagnostic and surgical techniques, survival of patients with congenital heart disease (CHD) has improved over the past sixty years such that there are more adults alive with CHD than children. While survival has improved, there are several challenges in determining best treatment strategies for CHD patients including the heterogeneity of CHD subtypes and varying treatment strategies over time. Gathering adequate numbers for meaningful research is challenging even with a multicenter approach.

Perhaps the greatest challenge to conducting CER in CHD patients is the high rate of attrition with very poor rates of successful transition from pediatric to adult centered cardiology care. Interestingly, while nearly 50% of patients drop out of cardiac care by age 18 years, 87% of patients are still in the care of a primary care practitioner. This lack of cardiology care extends into adulthood. In the United States, it is estimated that that only 15-25% of adults with CHD remain in subspecialty care. An absence and disruption of follow-up care or follow-up care at non-recommended care levels, collectively referred to here as “gaps in recommended care”is commonly reported among adults with CHD (ACHD). In limited studies, these gaps have been associated with higher costs and adverse outcomes, including being 3x more likely to require an urgent intervention. 

The AHA/ACC has issued guidelines on recommended care for specific CHD subtypes. Unfortunately, much of the data includes all CHD subtypes or a separation into simple/complex CHD. There are no large scale studies examining the effects of gaps in recommended care in specific CHD subtypes. The lack of lesion specific data on prognosis is often a struggle for patients as they are contemplating life decisions such as marriage, career, and children and are unable to factor lifespan or long-term quality of life in their decision making.

This project and patient prioritized outcomes were determined through a PCORNet Cardiovascular Health Collaborative Research Group sponsored patient powered research summit, with a focus on adults with congenital heart disease. During this summit, researchers, patients, and family members of patients with CHD discussed research questions and outcomes that were important to CHD patients and their families. Understanding the impact of inadequate transition and gaps in recommended care on healthcare utilization, long-term co-morbidities, mortality and patient reported outcomes were the highest priority topics from patients, families and researchers.Specifically, patients and researchers wanted information about the specific CHD subtypes and how to improve recommended follow up practices and adherence.

The following research questions will be addressed in this proposal:

1. How does inadequate transition with resultant gaps in care affect patient prioritized outcomes amongst patients with congenital heart defects? (Outcomes: healthcare utilization, long-term co-morbidities, and mortality)

2. What factors are associated with gaps in recommended care?(ie, types of CHDs, SES, age)

3. How does inadequate transition with resultant gaps in care affect patient reported outcomes of quality of life, physical health and functioning, and mental health?

4. Does providing patients with information about recommended care for their specific CHD subtype reduce gaps in care and result in improved outcomes?

To address the many questions regarding patients with CHD, we plan to use PCORnet to examine the effects of gaps in recommended care on patient prioritized outcomes. Through partnership with key CHD stakeholders, we propose the creation of a CHD surveillance program throughout PCORnet affiliated institutions. The goals of this program will not only be to understand the impact of gaps in recommended care in CHD patients, but also to create a cohort of patients of various CHD disease subtypes for prospective studies. By enrolling patients into an existing adult congenital heart disease (ACHD) specific registry, future interventions based on study findings can be rapidly implemented in real-world settings through the strong partnerships established with key CHD organizations and stakeholders. This study has tremendous potential to advance research and CER regarding CHD specific lesions, as using PCORnet to identify this cohort will provide a critical resource that is not currently available to patients or researchers.Utilizing PCORnet also allows us to include populations that are typically not included in CHD research, namely those patients who have been lost to follow-up.


Partnerships:This project has been developed through extensive partnerships between the CHD community and PCORnet. Drs. Thomas Carton and Anitha John will serve as a dual-PI on this study. Dr. Carton is a health services researcher specializing in leveraging electronic health record data for disease surveillance and measurement of quality improvement programs. He is the PI of the REACHnet Clinical Research Network (CRN), current Chair of the PCORnet Steering Committee, and co-lead of the PCORnet data linkage and COVID19data workgroups. Dr. John is a pediatric and adult congenital cardiologist and currently serves as the director of the Washington Adult Congenital Heart Program at Children’s National Hospital (Washington, DC). She is a leading researcher in the field of CHD and has extensive expertise in running and leading multi-disciplinary groups focused on CHD research. The Adult Congenital Heart Association (ACHA), the only patient advocacy organization specifically for adults with congenital heart disease, has been a key driver in this project as has been the Alliance for Adult Research in Congenital Cardiology (AARCC). AARCC is the only and largest multicenter research network (43 centers) in North America, focused exclusively on the long-term outcomes of adults with congenital heart disease. 

Dr. John, in partnership with the Heart Research Alliance (including the ACHD Cause Group), the Alliance for Adult Research in Congenital Cardiology (AARCC), and the Adult Congenital Heart Association (rare disease collaborator), has established The Congenital Heart Initiative, the first patient powered registry for adults with congenital heart disease. Representatives from theCongenital Heart Initiative team, a diverse team of stakeholders including CHD patients, family members, clinicians, researchers, and CHD organizational representatives, will serve on the study advisory board. In addition, researchers from the Alliance for Adult Research in Congenital Cardiology will serve as the site PIs from the respective PCORnet sites/institutions. This will provide additional content expertise while also allowing for effective utilization of staff, budget and resources.

Several PCORnet centers and resources will be participating. The lead site will be REACHnet with Dr. Thomas Carton, with participation from PEDSnet, ADVANCE, OneFlorida, INSIGHT, Humana and HealthCore Anthem. We will be using the Data Coordinating Center to facilitate data queries across all networks. The goal will be linking not only to claims data, but also to the Congenital Heart Initiative, an existing patient powered registry for adults with CHD.

Study Design and Approach:

•Overall design: This study will be a prospective cohort design with the goal of establishing a diverse panel of CHD patients who are either (1)adhering or (2) not adhering to recommended care guidelines. Patients with qualifying CHD (ICD9/10 codes) who are>14 years of age will be included in the study. Gaps in care will be defined by the recommended care guidelines for each specific CHD being analyzed. Data will be collected to ascertain the presence of key comorbidities, healthcare utilization, and mortality.Predictors of inadequate transition/gaps in recommended care will be analyzed. Once patients are identified, site-specific PIs and their teams will facilitate enrollment into the Congenital Heart Initiative registry through the Eureka Research Platform, and electronic patient recruitment and engagement platform used with several large research projects. Specifically, patient prioritized outcomes (quality of life, mental health, and physical health & functioning) will be assessed among registrants who will be stratified by disease complexity and gaps in care. During enrollment, patients will be provided with information about disease specific care recommendations and will be queried as to additional resources needed to prevent gaps in care. This initial cohort will be followed prospectively to assess improvement in gaps in care as a result of the information provided. By linkage to PCORnet, primary and secondary outcomes can be assessed over time and will allow for future CER trials based on patient feedback.

•Data Sources and Infrastructure: This study will use standardized data elements in PCORnet’s Common Data Model populated by PCORnet’s CRNs, linked with claims data from two PCORnet Health Plan Research Networks and the Congenital Heart Initiative registry. The IRB of record will be Children’s National Hospital, but we will use the PCORnet infrastructure to help streamline site specific IRB approval and facilitate site specific contracting. 

•Cohort identification:Cohort identification will be done through ICD9/ICD10 search in addition to disease specific follow-up guidelines. A feasibility study has been conducted previously through 4 datamarts that demonstrated adequate numbers for analysis(8,640 patients).A validation will be performed by contacting the patient directly through the Congenital Heart Initiative as part of recruitment. By linking to the patient’s PCORnet data, verification of the patient’s diagnosis can be performed. 

•Data Linkages: Clinical data from the PCORnet CDM will be combined with claims data from two HPRNs and patient-reported outcomes from the Congenital Heart Initiative. The PCORnet Coordinating Center will develop a query to complete this linkage across participating sites, and a row-level, limited data set will be made available to the research team at Children’s National.

Sharing of Tools and Resources for Future Rare Disease Research: 

By establishing this cohort of patients, we allow for adequate numbers and diversity of patients to conduct comparative effectiveness research in the CHD population. The goal will be for future researchers to utilize the collaborations built in this project to generate new CER (in collaboration with patients) based on project results. De-identified data will be shared in the form of disease specific dashboards (ie, tetralogy of Fallot dashboard) which will be shared with patients and providers through dissemination of results through ACHA/AARCC/participating stakeholders. In addition, the computable phenotype for the various subtypes of CHD will be generated for PCORnet’s resource repository. We will ensure compliance with the data management and data sharing guidelines per PCORI’s policy.