Showing 9 ideas for tag "congenital"

Goal 2: Reduce Human Disease

Understanding the Genetic & Epigenetic Basis of Congenital Heart Disease?

Over the last thirty years, our fundamental understanding of the genetics and pathogenesis of congenital heart disease has lagged the tremendous advances in the surgical and clinical care of infants with this group of disorders. We need to close this gap with investigation into the genetic basis of congenital heart malformations to develop new models of disease. The goall is translate an improved molecular genetic and... more »

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

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Congenital heart disease (CHD) is the most common congenital malformation and the most common cause of mortality during the first year of life. Approximately 70% of cases occur sporadically without a strong family history or identifiable genetic syndrome, and the primary heritable basis of most non-syndromic CHD has yet to be identified. Studies of affected kindreds, syndromic disease, and more recently genome wide association studies (GWAS) have shed light on a handful of causal loci, while exome sequencing and studies of structural variation uncovering rare de novo variants in trios have yielded only an 8-10% rate of diagnosis in cohorts with CHD. Despite the application of contemporary techniques and study design to genetic discovery in CHD, the majority of the genetic risk for human cardiac malformations remains unexplained.

Feasibility and challenges of addressing this CQ or CC

One key challenge is that many of the stakeholders including those affected with congenital heart disease (children), along with the physicians make a diagnosis and referral (obstetricians, neonatologists, general pediatricians), are generally funded by other agencies (NICHD). Trans-agency collaboration and cooperation is necessary to improve the translational research structures necessary to improve disease.

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Goal 2: Reduce Human Disease

Data integration in congenital heart disease research

Lack of data integration in the congenital heart disease research community is inhibiting low cost, research opportunities.

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

Details on the impact of addressing this CQ or CC

Improve our ability to leverage big data. We could accumulate larger sample sizes to ask/answer important epidemiology or comparative effectiveness questions in the congenital heart disease population.

Feasibility and challenges of addressing this CQ or CC

Bioinformatics, data science, and information technology capabilities are reaching a point to support such large scale data integration efforts.

Name of idea submitter and other team members who worked on this idea NHLBI Staff

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19 up votes
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Goal 2: Reduce Human Disease

Longitudinal Outcomes in Adults with Congenital Heart Disease

There is a critical need in congenital heart disease to assess longitudinal medical and psychosocial outcomes in older children and adults in the U.S. Current data in this area, particularly in the adult population, is limited to single center or small multicenter efforts or registry/population data from other countries. Understanding the long-term aspects of care is necessary not only to provide lifelong high quality... more »

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

Details on the impact of addressing this CQ or CC

Opportunity: It is well known that there are now more adults than children living with congenital heart disease. It was estimated that there were approximately 1 million adults living with CHD in the United States in 2000. Yet, less than one-third of these patients receive specialized adult congenital cardiology subspecialty care. Despite reported gaps in care and published guidelines, there is no accurate estimate of this population in the United States. In the absence of a national registry for patients with CHD, there are other opportunities to reach a broader population for participation in research and for population-based studies using resources such as improved electronic health records and social media. These might include the development of methods to use large electronic health record networks. Moreover, established networks are often required to facilitate translating basic science observations to clinical outcomes. It is only with further mechanistic and populatio n-based data that we will begin to understand long term outcomes, develop new medical, transcatheter, and surgical strategies, improve quality of care and begin to plan for lifelong care of all people with CHD.

Feasibility and challenges of addressing this CQ or CC

Feasibility will remain difficult in the absence of associated registries or databases currently in existence. New electronic health records may make this more feasible than in the current system. Efforts to standardize definitions, classification and coding of CHD would also be required to link and compare current databases. Although the challenges described are certain, multicenter collaboration as demonstrated by the Alliance for Adult Research in Congenital Cardiology (AARCC); an established collaborative research network among 15 adult congenital heart centers, may help overcome these obstacles.

Name of idea submitter and other team members who worked on this idea Stephen Cook

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Goal 2: Reduce Human Disease

Adult cardiovascular risk in patients with congenital heart disease

Do patients with congenital heart disease have the same, higher, or lower risk for coronary artery disease as they age into adulthood?

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

Details on the impact of addressing this CQ or CC

By improving our understanding of cardiovascular risk in patients with congenital heart disease we may be able to improve our surveillance for disease and intervene earlier to address this risk factors. The adult population with congenital heart disease is undergoing rapid growth.

Feasibility and challenges of addressing this CQ or CC

The adult population with congenital heart disease is undergoing rapid growth. Novel uses of electronic health records (EHRs) and registries may enable us to answer these questions in a cost-efficient manner.

Name of idea submitter and other team members who worked on this idea NHLBI Staff

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Goal 2: Reduce Human Disease

Exercise in congenital heart disease and arrhythmia syndromes

What are the true risks of physical activity and competitive sports for children/young adults with congenital heart disease and arrhythmia syndromes?

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

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Improve the quality of life of patients with congenital heart disease or arrhythmia syndromes who are currently restricted from competitive sports.

Feasibility and challenges of addressing this CQ or CC

While we previously restricted many of these patients, the pendulum seems to be swinging back in terms of our thinking about this. While some preliminary data has suggested safety, more data is needed.

Name of idea submitter and other team members who worked on this idea NHLBI Staff

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4 net votes
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Goal 2: Reduce Human Disease

Inflammation and outcomes following pediatric cardiac operations

What is the contribution of the inflammatory response to postoperative recovery following pediatric cardiac operations and what strategies can improve outcomes?

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

Details on the impact of addressing this CQ or CC

Congenital heart disease is the most common cause of birth defects, with about 40,000 new cases born per year in the US. Affected individuals experience morbidity and mortality that generate health and economic consequences significantly out of proportion to their numbers. An estimated 10,000 of these patients will undergo cardiac surgery involving cardiopulmonary bypass (CPB). Furthermore, it is estimated that over 300,000 children in the US under age 21 have congenital cardiovascular disease and that 38% of these children will have had one or more surgical procedures. The use of CPB in neonates in particular has increased steadily over the past two decades. Further, neonates are generally sicker and consume more resources, including postoperative mechanical ventilation, ICU stay and hospital stay. Consequently, reducing the deleterious effects of CPB will have the largest impact in this group of patients.

Feasibility and challenges of addressing this CQ or CC

Research has begun to assess the inflammatory response to cardiopulmonary bypass in pediatrics. However, the magnitude and importance of its contribution to complicating postoperative recovery remains elusive. Clinical trials have begun to assess the efficacy of generalized anti-inflammatory therapies, typically steroids, with conflicting results. No therapy has been recognized as the standard of care. It’s critical that we improve our understanding of the molecular and cellular mechanisms of this inflammatory response and resulting derangements in vascular permeability and develop novel treatment strategies for infants and children undergoing cardiopulmonary bypass.

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Goal 2: Reduce Human Disease

Promotion of human health and reduction of human disease

Congenital heart disease (CHD) is the most common birth defect and leading cause of defect-related infant mortality. With nearly 1 in 100 babies born annually with CHD, the needs of children and adults born with CHD are ongoing and costly. More focused research into CHD promotes human health and will result in a better quality of life, reduced premature death and lower healthcare costs.

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Critical Challenge (CC)

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Goal 2: Reduce Human Disease

Cardiac rehabilitation in congenital heart disease

Does cardiac rehabilitation in children with Fontan physiology increase exercise capacity over the long term?

What are the benefits? What is the appropriate dose? What other CHD populations may benefit from cardiac rehabilitation?

Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? Compelling Question (CQ)

Details on the impact of addressing this CQ or CC

Improve functional capacity and quality of life of patients with congenital heart disease.

Feasibility and challenges of addressing this CQ or CC

Preliminary data has been promising but larger clinical trials are needed.

Name of idea submitter and other team members who worked on this idea NHLBI Staff

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