Whole genome microarray gene expression profiling of right ventricular heart specimens from pediatric patients with Tetralogy of Fallot (TOF)

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect with a world-wide prevalence of 3 to 4 cases per 10,000 life births. TOF is a congenital heart disease with four major cardiac defects, i.e., ventricular septal defect, overriding aortic root, infundibular stenosis of the pulmonary artery, and right ventricular hypertrophy. Treatment relies on correction surgery in early infancy. This study performed whole genome microarray gene expression profiling of cardiac specimens of the right ventricular outflow tract (RVOT), which were recovered during correction surgery of TOF from 11 pediatric patients diagnosed with TOF cardiac defects. Whole genome microarray gene expression profiling was performed of cardiac specimens of the right ventricular outflow tract (RVOT) of pediatric patients with Tetralogy of Fallot (TOF) and cyanosis. Cardiac specimens (muscle bundles that are routinely resected from the RV outflow tract as part of surgery) were recovered from 11 pediatric patients with sporadic TOF cardiac defects and cyanosis (repeated oxygen saturation measurements of ≤ 91.0 % on room air, and episodes of spells; 4 males, 7 females; age 23.2 ± 5.0 months).