June 23 and 24, 2014, Bethesda, MD
The National Heart, Lung, and Blood Institute (NHLBI) and the Adult Congenital Heart Association (ACHA) convened a Working Group meeting on June 23 and 24, 2014, in Bethesda, MD, to assess the current gaps in knowledge about adult congenital heart disease (ACHD) and to identify high-impact research topics for the field. The Working Group consisted of experts in ACHD, pediatric and adult cardiology, heart failure, electrophysiology, stem cell biology, genomics, cardiovascular surgery, patient advocacy, epidemiology, clinical trials, and registries. The working group supports Goal 1 of the NHLBI Strategic Plan, which is "to improve understanding of the molecular and physiological basis of health and disease, and to use that understanding to develop improved approaches to disease diagnosis, treatment, and prevention."
Improvements in surgical and interventional techniques and medical management strategies have resulted in increasing survival of individuals with congenital heart disease into adulthood. In the year 2000, there were an estimated 750,000 to 1.3 million adults with congenital heart disease in the United States. By the year 2010, prevalence rates increased further in older age groups; and some estimate that approximately 1.5 million adults in the United States live with congenital heart disease. Although mortality rates appear to be decreasing over time, adults with congenital heart disease continue to suffer early mortality from chronic heart failure, sudden death, vascular and cardiac complications, and non-cardiac comorbidities. In addition, ACHD patients still suffer significant morbidity, their quality of life suffers, and they must rely on extensive medical care. In essence, individuals with ACHD make up a growing population of adults with diseases that did not exist in adults until recently; whose clinical epidemiology is not well described; and for whom there is limited evidence to support many of the major medical decisions that affect their health and well-being.
There is an urgent need to develop and expand the evidence base used to care for adults with congenital heart disease. Therefore, the Working Group identified the following topic areas as high-impact research topics for the field of ACHD:
- defining the clinical epidemiology of ACHD in the United States;
- characterizing outcomes for individuals with ACHD-related heart failure who require mechanical circulatory support and/or transplant;
- clarifying risk stratification and outcomes of pulmonary valve replacement on heart failure in patients who have repaired tetralogy of Fallot, a heart anomaly in which a combination of up to four congenital heart defects occur together;
- developing tools for risk stratification for sudden cardiac death in ACHD;
- understanding neuropsychological and neurocognitive issues in ACHD and developing interventions for possible improvement in adherence to medical regimens;
- describing short- and long-term outcomes of pregnancy in women with ACHD and their children;
- determining the prevalence, risk-factor-related outcomes, and genetic determinants for coarctation of the aorta, a congenitally narrowed aorta, and conotruncal defects, which affect the cardiac outflow tracts; and
- understanding the predictors of organ disease and functional capacity in adolescents and adults who have undergone Fontan palliation for single ventricle anomalies.
The Working Group discussed partnering with other entities to facilitate such research endeavors. Important possible partners include administrators of existing databases and registries, professional societies, industry, advocacy organizations, patients, the Patient Centered Outcomes Research Institute (PCORI), the Centers for Disease Control and Prevention, and the National Institutes of Health.
The group intends to prepare a manuscript describing its discussions in more detail for publication in a peer-reviewed journal.
Kristin M. Burns, M.D.
Working Group Participants:
Robert M. Califf, M.D., Duke University
Michelle Gurvitz, M.D., M.S., Boston Children's Hospital, Harvard Medical School
Ralph Brindis, M.D., MPH, University of California, San Francisco
Craig S. Broberg, M.D., MCR, Oregon Health and Sciences University
Curt J. Daniels, M.D., Nationwide Children's Hospital and the Ohio State University
Stephanie M.P.N. Fuller, M.D., Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania
Margaret Honein, Ph.D., MPH, Centers for Disease Control and Prevention
Jeffrey P. Jacobs, M.D., Johns Hopkins All Children's Heart Institute
Paul Khairy, M.D., Ph.D., Montreal Heart Institute, Université de Montréal
Karen S. Kuehl, M.D., MPH, Children's National Medical Center, Washington Hospital Center, George Washington University School of Medicine
Michael J. Landzberg, M.D., Boston Children's Hospital, Brigham and Women's Hospital, Harvard Medical School
William T. Mahle, M.D., Children's Healthcare of Atlanta, Emory University School of Medicine
Douglas L. Mann, M.D., Washington University in St. Louis, Washington University School of Medicine
Ariane Marelli, M.D., MPH, McGill University
Jane W. Newburger, M.D., MPH, Boston Children's Hospital, Harvard Medical School
Randall C. Starling, M.D., MPH, Cleveland Clinic
Glenn R. Tringali, National Executive Director, Adult Congenital Heart Association
Anne Marie Valente, M.D., Boston Children's Hospital, Brigham and Women's Hospital, Harvard Medical School
Joseph Wu, M.D., Ph.D., Stanford University School of Medicine
Kristin M. Burns, M.D.
Jonathan R. Kaltman, M.D.
Gail D. Pearson, M.D., Sc.D.
Ellen R. Rosenberg, R.N.
Charlene A. Schramm, Ph.D.
Monica R. Shah, M.D.
Last Updated: August 2014