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Toganel R.,University of Medicine and Pharmacy of Targu Mures | Toganel R.,Institute Of Cardiovascular Diseases And Transplantation Tg Mures | Banescu C.,University of Medicine and Pharmacy of Targu Mures | Duicu C.,University of Medicine and Pharmacy of Targu Mures | And 7 more authors.
Revista Romana de Medicina de Laborator | Year: 2010

Introduction. Angiotensin converting enzyme (ACE) plays an important role in the pathogenesis of pulmonary arterial hypertension. In this study we determined whether the deletion (D)/insertion (I) polymorphism in the ACE gene may be associated with pulmonary arterial hypertension in children. Methods and Results. We performed a case-control study involving 29 patients with pulmonary arterial hypertension and 26 healthy controls. Genomic DNA extracted from peripheral blood was amplified using the polymerase chain reaction to detect the polymorphic marker. In patients, ACE genotype distribution of DD, ID, and II was 34.5%, 58.6%, and 6.9%, respectively, whereas in controls it was 11.5%, 69.3%, and 19.2%, respectively. Conclusion. The ACE DD genotype is significantly increased in patients with pulmonary hypertension compared with normal controls, suggesting that certain individuals may be genetically predisposed to developing pulmonary hypertension.


Toganel R.,University of Medicine and Pharmacy of Targu Mures | Toganel R.,Institute Of Cardiovascular Diseases And Transplantation Tg Mures | Muntean I.,University of Medicine and Pharmacy of Targu Mures | Muntean I.,Institute Of Cardiovascular Diseases And Transplantation Tg Mures | And 5 more authors.
Revista Romana de Medicina de Laborator | Year: 2013

Background: Pulmonary arterial hypertension (PAH) is an incapacitating disease even in childhood, associated with very poor prognosis. The disease is characterised by endothelial dysfunction. Two of the key endothelial mediators involved in the PAH pathogenesis are nitric oxide (NO) and angiotensinogen (AGT). Purpose of the study: to evaluate the following gene polymorphisms: endothelial nitric oxide synthase (eNOS) G894T, eNOS 4b/4a, and angiotensinogen (AGT) M235T, as well as allele frequency and their association with PAH in children. Material and methods This study included 32 children with pulmonary arterial hypertension secondary to congenital heart disease, 46 children with congenital heart disease without pulmonary arterial hypertension referred to the Pediatric Cardiology Clinic Tg.Mures and 40 healthy controls. All patients underwent a complete physical with NYHA class evaluation, echocardiographic exam and eNOS (G894T, 4b/4a) as well as AGT M235T polymorphisms determination. Results The frequency of eNOS 894T allele (p < 0.0001) was significantly higher in patients with pulmonary arterial hypertension. Conclusions Our results advocate that there is a correlation between eNOS 894T allele and pulmonary arterial hypertension in children.

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