Thomas S. Maxey1, William T. Mahle2, Shady M. Eldaif1, Brian E. Kogon1, Kirk R. Kanter1, Mark M. Bouzyk2, Paul M. Kirshbom1; 1Emory University School of Medicine, Atlanta, GA; 2Childrens Healthcare of Atlanta, Atlanta, GA
Objective: Palliation of single ventricle congenital heart disease (SV-CHD) requires staged operations culminating in the Fontan procedure. Elevated vascular resistance could seriously impair Fontan physiology. Genetic polymorphisms of the endothelial nitric oxide synthase (eNOS) gene are associated with several cardiovascular diseases. The purpose of this study was to examine the effect of the eNOS polymorphism G894T on hemodynamics and late outcome in SV-CHD patients.Methods: DNA was isolated from 142 SV-CHD children born between 1991 and 2006. Two groups were identified based upon eNOS G894T genotype: Group 1 (G/G, n=80) vs. Group 2 (G/T and T/T, n=62). All pre-Fontan cardiac catheterizations (median age at evaluation = 25 months) were analyzed (n=71). Hemodynamic variables and the incidence of clinical failure (cardiac transplant evaluation or death) were compared using ANOVA and Kaplan-Meier analysis respectively.
Results: Pulmonary (PVR) and systemic (SVR) vascular resistance were significantly lower in Group 1 than Group 2 (PVR: 1.5 ± 0.8 vs 2.0 ± 0.8 Wood units p=0.02; SVR: 15.2 ± 4.5 vs. 19.3 ± 5.2 Wood units p=0.001). There was also a strong trend towards higher transplant free survival in Group 1 with 1, 5, and 10 year actuarial survivals of 95%, 84%, and 74% vs. 95%, 75%, and 62% respectively (p=0.055).
Conclusion: The long-term outcome of palliated children with SV-CHD is multifactorial. These data document the effect of the eNOS gene polymorphism (G894T) on vascular resistance in SV-CHD patients prior to the Fontan stage. Such chronic vascular tone changes may significantly impact the transplant-free survival of these patients.
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