Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …

The genetic mechanisms underlying congenital heart disease (CHD) are complex and
remain incompletely understood. The majority of patients with CHD have an isolated heart …

FOXJ1 is expressed in ciliated cells of the airways, testis, oviduct, central nervous system
and the embryonic left–right organizer. Ablation or targeted mutation of Foxj1 in mice …

Dextro-transposition of the great arteries (D-TGA) is the second most common cyanotic heart
disease, accounting for 5–7% of all congenital heart defects (CHDs). It is characterized by …

To date, the role of NODAL in normal and abnormal LR asymmetry has been well
established. In a recent paper, mutations of this gene have been reported in heterotaxy but …

Background Our aim is to identify the pathognomonic anatomical markers and the best
terminology to describe the cardiac malformations associated with absent or multiple …

Transposition of the great arteries (TGA) is a congenital heart defect with a complex
pathogenesis that has not been fully elucidated. In this study, we performed whole-exome …

Transposition of great arteries (TGA) is a complex congenital heart disease whose etiology
is still unknown. This defect has been associated, at least in part, with genetic abnormalities …

The birth prevalence of laterality defects is about 1.1/10,000 comprising different phenotypes
ranging from situs inversus totalis to heterotaxy, mostly associated with complex congenital …

Background: Congenitally corrected transposition of the great arteries (ccTGA) is a rare
disease of unknown cause. We aimed to better understand familial recurrence patterns …