Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected].

We report that the dominant human missense mutations G303E and G296S in GATA4, a cardiac-specific transcription factor gene, cause atrioventricular septal defects and valve abnormalities by disrupting a signaling cascade involved in endocardial cushion development. These GATA4 missense mutations, but not a mutation causing secundum atrial septal defects (S52F), demonstrated impaired protein interactions with SMAD4, a transcription factor required for canonical bone morphogenetic protein/transforming growth factor-β (BMP/TGF-β) signaling. Gata4 and Smad4 genetically interact in vivo: atrioventricular septal defects result from endothelial-specific Gata4 and Smad4 compound haploinsufficiency.

Hemodynamic responses to etomidate on induction of anesthesia in pediatric patients.

Etomidate is often used for inducing anesthesia in patients who have limited hemodynamic reserve. Using invasive hemodynamic monitoring, we studied the acute effects of a bolus of etomidate during induction of anesthesia in children. Twelve children undergoing cardiac catheterization were studied (mean age, 9.

Cardiac surgery in a child with sacral and intrasacral haemangioma.

A 23-month-old female with giant sacral (S1-S5) and intrasacral (L4-S5) haemangioma, lipomyeloschisis and a tethered cord presented for correction of a sinus venosus atrial septal defect. Angiography revealed a large perisacral hypervascular mass with large veins and an intraspinal extension. The patient had a neurogenic bladder and left extremity weakness due to spinal cord compression.