Division of Cardiovascular Diseases Strategic Plan

Goals in Cardiovascular Clinical Problems or Disease States

2.1b. Improve evidence-based care and treatment of children with congenital and acquired pediatric heart disease

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In 1944, Eileen Saxon, a blue, frail 15 month-old child weighing little more than a newborn, was anesthetized with drops of ether, and woke up a pink pioneer in congenital heart disease.  She had the first “blue baby” operation, conceived and perfected by the team of Alfred Blalock, Helen Taussig, and Vivien Thomas at Johns Hopkins, which revolutionized congenital heart disease treatment.  Many medical, surgical and organizational advances followed.  These included:  open-heart surgery, prostaglandins to maintain ductal patency and, thus, circulation in complex conditions, organization of care into specialized units, miniaturization of tools and devices permitting infant and neonatal surgery, and echocardiography, to name a few.  By the 1990s, survival was the norm rather than the exception.

The first 50 years of the specialty were characterized by heroic efforts to improve survival.  In the face of a child who will die without intervention, doing something is preferable to doing nothing.  As survival improved, however, pediatric cardiologists and surgeons could step back from what amounted to clinical trials with an “n” of 1, and begin to think about systematic care for children with heart disease.  With improved short-term survival came the luxury of evaluating longer-term outcomes as well as neurodevelopmental outcomes, and long-term functional status.  The field is thus relatively new to the concept of evidence-based medicine and, furthermore, with at least 18 major categories of malformation, even the largest centers do not have many patients with a specific diagnosis.  NHLBI support has helped usher in a new era of collaborative research in pediatric CV disease, but there is a great deal yet to learn to ensure ideal outcomes for children like Eileen Saxon.

Strategies to Accomplish this Goal May Entail:

Basic Research:

  • Explore stem cell biology and tissue engineering strategies such as cell-instructive scaffolding for the repair of cardiac defects.
  • Understand subcellular, cellular, and tissue components of CV injury in the setting of CCVMs.
  • Identify mechanisms of pulmonary vascular abnormalities associated with CCVMs.

Translational Research:

  • Develop large animal models of complex defects to permit preclinical evaluation of interventions, including fetal intervention.
  • Identify and validate biomarkers for the early identification of ventricular dysfunction, arrhythmias, and conduction abnormalities in CV malformations.
  • Coordinate existing biospecimen collections and encourage new specimen collections as well as consistent phenotype data from individuals with congenital heart disease to acquire enough specimens for each of the major malformations to conduct credible genetic and genomic research.
  • Develop tools to use in risk stratification and selection of therapeutic strategy, including improved noninvasive assessment of structure and function or genetic factors in response to medical therapy or risk of adverse outcome.

Clinical Research:

  • Assess screening strategies for rare but potentially lethal conditions such as:  pediatric sudden cardiac death, cyanotic congenital heart disease, hypertrophic cardiomyopathy (HCM), and other genetic cardiomyopathies.
  • Establish large prospective cohorts of children with major CCVMs to assess CV outcomes as well as growth and neurodevelopment.
  • Establish long-term follow-up cohorts after pediatric CV trials.
  • Design and conduct clinical trials of existing and novel interventions to treat congenital and acquired pediatric heart disease, including fetal intervention, and to prevent late complications. 
  • Evaluate the effects of image-guided interventions on clinical outcomes and on performance characteristics such as procedure time and complications.
  • Develop and evaluate strategies for left and right ventricular support.
  • Develop standards for data collection and nomenclature and strategies for using administrative data sets to augment clinical trial data.
  • Evaluate the effects of pediatric trial results on changes in clinical practice.
  • As with all clinical research in rare diseases, develop novel clinical research strategies, such as improved statistical techniques for “small n” clinical trials, novel research mechanisms, or focused collaborative strategies with existing programs such as the Clinical Translation Science Awards (CTSA) program.

Contributing Sources:

September 2008

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