Atrial septal defect (ASD) is a congenital heart disease where there is a defect in the atrial septum which cause a shunt from left to right atrium. Most ASD cases resolves spontaneously, while the rest who don't will have an increased blood flow to the lung and develop into pulmonary hypertension. ASD is a multifactorial disease, including genetic factor, where there is a mutation in NKX.5, GATA4, TBX5 and MYH6 gene.
Objective: The aim of this study was to find an association between pulmonary hypertension in secundum ASD and gene mutation.
Methods: The subjects of this study were secundum ASD patients who fulfilled the inclusion criteria. A genetic epidemiology study was carried out to detect a mutation in NKX.5, GATA4, TBX5 and MYH6 gene using DNA isolation sequencing test. The diagnosis of ASD and pulmonary hypertension was made based on echocardiography.
Results: This study showed that seven children with ASD had a mutation in NKX2.5, GATA4, and MYH6 gene. There was no mutation in TBX5 gene. Five of the children had pulmonary hypertension and it occurs in secundum ASD with diameter between 14-32 mm. There was an association between pulmonary hypertension in secundum ASD and mutation in NKX2.5, GATA4, and MYH6 gene (P=0.037).
Conclusion: ASD with gene mutation more often has pulmonary hypertension;. Besides diameter, gene mutation has a role in the development of pulmonary hypertension in ASD.