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| Endothelial Nitric Oxide Synthase Gene Polymorphism and Pulmonary Hypertension in Children with Congenital Heart Diseases | |
Tsvetomir S. Loukanov, Matthias Gorenflo, Matthias Karck; Cardiac Surgery, University of Heidelberg, Heidelberg, Germany
Methods: The study group includes 80 children (m = 41; f = 39) on the average age 3.8 [0.1-36.2] years (median [range]) with congenital heart diseases and 136 children as a control group. Patients presented with significant left-to- right shunt (Qp/Qs of 2.8 [1.4-7.5]). Forty out of 80 patients showed PH with mean pressure (PAP) of 30 [13- 82] mmHg prior to the intra-cardiac repair. Fifteen out of 31 operated patients were found to have postoperative persistent PH. Results: The Glu298Asp polymorphism was identified using polymerase-chain reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP). In both groups, the control group and the group of 80 patients, the genotypes distribution corresponded to the Hardy-Weinberg Equilibrium (HWE) - Chi2 = 0.96 and Chi2 = 0.25. The gene frequency for Glu298Glu, Glu298Asp and Asp298Asp was not different in control group compared with the group of patients (Chi-square= 0.79; 2 degree of freedom; p= 0.37477). The Armitage trend test showed however a clearly significant result (53.3% vs 25.0%; p=0.03799) for the correlation of e-NOS polymorphism and post-operative PH. Significant association between the postoperative PH and the allele frequencies of the Glu298Asp was determined with Fischer’s Exact Test (p = 0.0481, one-sided). Conclusion: The investigation of the polymorphism concerning post-operative PH after intra-cardiac surgery shows that Asp- carrier patients have more frequently persistent PH. The Glu-Asp polymorphism of the gene e-NOS would be indicated as genetic marker for predisposition for the development of persistent pulmonary hypertension. Back to 2009 Annual Meeting Back to Program Outline Back to Main Program |
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