IDENTIFICATION OF GENETIC PREDICTORS OF SURVIVAL AND PATHOPHYSIOLOGIC MECHANISMS IN CONGENITAL HEART DISEASE PATIENTS

Doctor's Name: 
Kim, Daniel Seung
Hospital/Institution: 
University of Washington

Collaboratively awarded through the CHF and AHA Congenital Heart Defect Research Awards

(Total Grant Amount $40,000; CHF portion = $20,000)

My research seeks to identify the genetic factors that underlie poor survival in children born with non-syndromic congenital heart disease. Despite surgical and clinical improvements over the past few decades, these infants consistently have high mortality rates (approximately 35% by 3 years after surgery). Identifying and possibly risk factors, such as which genetic pathways are involved, may allow new, targeted interventions to reduce mortality. At the same time, I seek identify specific infants at high risk of death, so that clinicians can take preventative measures in these children.

I have previously identified several genetic risk factors of mortality following surgery in these children with congenital heart disease. In this proposed work, I seek to build upon these results and validate them in an independent and large (~4000) cohort of children with congenital heart disease. Validation will provide compelling evidence that these genetic risk factors should be considered in the clinical evaluation of these high-risk patients and that targeting them may provide new, life-saving treatments. Moreover, I seek to identify the specific pathologic mechanisms that lead to death in these patients with a given genetic risk factor. Finally, I will identify whether there is an increase in healthcare resource utilization in these children with specific genetic risk factors.

Identification of novel genetic risk factors and validation of ones I have previously identified will provide clinicians with additional data that can be used to identify high-risk patients for more intensive follow-up and may lead to new treatments. This clinical intervention will likely decrease mortality by shifting healthcare resources to the patients most likely to suffer serious morbidity and possible mortality in the future. Moreover, identifying specific pathophysiologic mechanisms that each carrier of a genetic risk factor is most likely to suffer from will aid physicians in constructing teams of specialists better able to prevent organ-specific diseases that arise after surgery for congenital heart disease in this high-risk patient group.

Award Date 1: 
2016
Award Amount 1: 
$20,000