Determination of a new mutation in MT-ND1 gene of a patient with dextrocardia, ventriculoarterial discordance, and tricuspid atresia

Abstract

Tricuspid atresia, a congenital heart defect (CHD) with unknown etiology, occurs 0.056 per 100 live births and is invariably associated with right ventricular hypoplasia, and atrial/ventricular septal defects (1). Recently, many of associations have been reported between mitochondrial DNA (mtDNA) and a variety of diseases (2). Next-generation sequencing has overcome many limitations of mtDNA studies, such as estimation of heteroplasmy level and its effects on the severity of mitochondrial diseases.