<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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 &lt; 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</p></abstract>

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

The role of eNOS and AGT gene polymorphisms in secondary pulmonary arterial hypertension in Romanian children with congenital heart disease 

University of Medicine and Pharmacy Tg. Mureş – Pediatric Cardiology Clinic Tg.Mureş

Institute of Cardiovascular Diseases and Transplantation Tg. Mureş – Pediatric Cardiology Clinic

University of Medicine and Pharmacy Tg. Mureş - Pediatric Clinic Tg.Mureş

University of Medicine and Pharmacy Tg. Mureş - Genetics Department

Revista Romana de Medicina de Laborator

The role of eNOS and AGT gene polymorphisms in secondary pulmonary arterial hypertension in Romanian children with congenital heart disease

Background: Pulmonary arterial hypertension (PAH) is an incapacitating disease even in childhood, associated with very poor prognosis. The disease is...

The role of eNOS and AGT gene polymorphisms in secondary pulmonary arterial hypertension in Romanian children with congenital heart disease

Published Online: Sep 19, 2013

Page range: 267 - 274

DOI: https://doi.org/10.2478/rrlm-2013-0031

This content is open access.