Anomalous conotruncal cardiac morphology and facial dysmorphology have been associated with neural crest-pharyngeal arch abnormalities. To assess these associations, 20 patients 3 to 18 years old with tetralogy of Fallot (TOF) or persistent truncus arteriosus (PTA) were evaluated by cardiologic, facial dysmorphic, and cephalometric criteria. The average number of facial abnormalities of neural ...

Removal of premigratory neural crest over somites 1 through 3 in chick embryos has been shown previously to result in a significant incidence of persistent truncus arteriosus. In the present study, single somite-length pieces of premigratory neural crest were removed unilaterally at slightly different embryonic ages. These lesions resulted in a number of different heart defects. Two defects, ve...

The levo-transposed aorta has previously been considered diagnostic of corrected transposition of the great arteries and hence ventricular inversion in situs solitus. Increasing experience with conotruncal abnormalities has shown that an abnormally leftward aorta may be found in patients with normally related ventricles (D-ventricular loop) and hemodynamically complete transposition of the grea...

OBJECTIVE Several mouse models of cardiac neural crest cell (NCC)-associated conotruncal heart defects exist, but the specific cellular and molecular defects within cardiac NCC morphogenesis remain largely unknown. Our objective was to investigate the underlying mechanisms resulting in outflow tract defects and why insufficient cardiac NCC reach the heart of the Splotch (Sp(2H)) mouse mutant em...

AIM To assess the outcome and mortality trend in newborns undergoing corrective surgery for congenital heart defect. METHOD We reviewed the hospital records of 1,033 neonates under 30 days of life, who had congenital heart defects operated on at the Kardiocentrum, Motol University Hospital in Prague, Czech Republic, during 1977-2001. Early and late mortality and reoperation rates were analyze...

Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutati...

WNT5A is one of the most highly investigated non-canonical Wnt ligands and is involved in the embryonic heart development, especially in formation of the cardiac conotruncal region by regulating the migration and differentiation of cardiac neural crest (CNC) and second heart field (SHF) cells. No study to date has comprehensively characterized the WNT5A regulatory variants in patients with cong...

Ventricular form and function are interrelated during cardiovascular development. The study of muscle mechanics requires the real-time measurement of length, area, or volume. Because volume measures are not currently possible in the embryonic heart, we tested the hypothesis that end-diastolic (ED) and end-systolic (ES) ventricular perimeter, area, and conotruncal diameter correlate with ventric...

OBJECTIVE To study the influence of a possible interaction between maternal smoking and high body mass index (BMI) on the occurrence of specific congenital heart anomalies (CHA) in offspring. DESIGN Case-control study. SETTING Data from a population-based birth defects registry in the Netherlands. PATIENTS Cases were 797 children and fetuses born between 1997 and 2008 with isolated non-sy...