NHLBI Working Group
Research in Adult Congenital Heart Disease
The National Heart, Lung, and Blood Institute convened a Working Group
of investigators on September 10-11, 2004, in Bethesda, Maryland to advise
NHLBI and the Office of Rare Diseases on research needed to improve the
care of the growing number of adults with congenital heart disease.
The Working Group reviewed data provided by each member on current American
Heart Association (AHA) and American College of Cardiology (ACC) activities;
the epidemiology of congenital heart disease; long-term outcomes of selected
conditions; diagnosis and assessment of function; intervention in adult
congenital heart disease; management of related conditions such as endocarditis,
thrombosis, pulmonary hypertension, arrhythmia, sudden death, and pregnancy;
quality of life; and informatics as applied to adult congenital heart
Adults with congenital heart disease are an important emerging patient
group. The modern era of surgery for congenital heart disease began 60
years ago, with the first "blue baby" operation. Since then,
medical and surgical strategies have been devised and refined for even
the most complex cardiac malformation, so the number of affected newborns
surviving infancy, childhood and adolescence has increased steadily. Today,
estimates of the number of adults with clinically significant, structural
heart disease vary from one to two million. Part of the difficulty in
determining the number of adults with congenital heart disease is that
some were felt to be "cured" in the previous era, some have
no access to medical care, and some have neglected follow-up care because
of denial or lack of knowledge. Most importantly, however, there has been
no systematic national collection of data for them.
Congenital heart disease in adulthood is heterogeneous, as it is in childhood.
Diagnoses can range from uncomplicated atrial or ventricular septal defects
that never required surgery or medication, to complex single ventricular
defects that have required several surgical procedures and multiple medications.
Even within diagnostic categories, patients can have a wide range of symptoms,
ranging from none to severe congestive heart failure and pacemaker dependence.
The question naturally arises: who should provide care for these patients?
Pediatric cardiologists are trained to take care of patients with complex
congenital heart disease, but pediatric offices and children's hospitals
may not be suitable for the care of adult patients. Adult cardiologists
are trained to take care of adult heart disease, but lack expertise in
treating cardiovascular malformations. Both the AHA and the ACC have ongoing
efforts to determine the optimal training for new specialists to care
for adults with congenital heart disease.
Improvements in non-invasive imaging in the past ten years are helping
to provide better data on cardiac structure and function for adults with
congenital heart disease. Many of these adults have either a single right
ventricle pumping to the systemic circulation, or two-ventricle physiology
with an abnormal right ventricle. Magnetic resonance imaging (MRI) has
been of particular benefit in measuring size and function in the right
ventricle, where the standard geometric assumptions used to make echocardiographic
assessments of left ventricular function may not apply so well. With survival
into adulthood have come co-morbidities. Many adults with congenital heart
disease have residual defects, arrhythmias, or progression to heart failure.
Advances in both surgery and catheter-based interventions have helped
to address some of these associated problems. As of the date of the working
group meeting, there were no published data on the superimposition of
adult cardiovascular disease on congenital heart disease.
The profound gaps in the knowledge base reviewed by the Working Group
led to three recommendations:
- Develop a national database of patients, combined with an outreach
education program on the need for ongoing care.
- Develop a research network modeled on other NHLBI and NIH networks.
This network would conduct clinical research and also provide training
for researchers and clinicians. Among the studies that could be considered
would be a third iteration of the Natural Hist ory Study (NHS 3).
- Promote mechanistic and bioengineering research partnerships with
direct clinical relevance to adult congenital heart disease.
The Working Group is planning to publish a formal report, which will
include an overview of the field and review of the literature, as well
as the Group's recommendations. The report will be posted on the NHLBI
public web site with a link to the journal or journals where the report
is published. Anticipated publication date is summer, 2005.
Gail D. Pearson, M.D., Sc.D., NHLBI, NIH
Working Group Members
Chair: Roberta Williams, M.D., Department of Pediatrics, University
of Southern California
- Robyn J. Barst, M.D., NY Presbyterian Columbia University
- John S. Child, M.D., UCLA Adult Congenital Heart Disease Center
- Pedro del Nido, M.D., Harvard Medical School
- Paul L. Douglass, M.D., Metropolitan Atlanta Cardiology Consultants,
- Welton M. Gersony, M.D., College of Physicians and Surgeons of Columbia
- Karen Kuehl, M.D., Children's National Medical Center
- Michael Landzberg, M.D., Brigham and Women's Hospital and Children's
- George A. Mensah, M.D., Centers for Disease Control
- Steven R. Neish, M.D., Texas Children's Hospital
- David J. Sahn, M.D., Oregon Health & Science University
- Amy Verstappen, Adult Congenital Heart Association
- Carole Warnes, M.D., Mayo Clinic
- Catherine L. Webb, M.D., Northwestern University Feinberg School of
- Nancy D. Bridges, M.D., NIAID, NIH
- Teri Manolio, M.D., Ph.D., NHLBI, NIH
- Merle Myerson, M.D,, Ed.D., NHLBI, NIH
- Gail D. Pearson, M.D., Sc.D., NHLBI, NIH
Last updated: November 17, 2004