His infant daughter was born with multiple heart defects, he says, and three major surgeries led Hornbaker and his wife to the brink of bankruptcy.
Soemedi et al. was the first one to report the strong association of this variant with the risk of multiple heart defects, especially left-sided malformations [ 8].
Thus, Daam1 gt/gt mice generally exhibit multiple heart defects, including ventricular non-compaction, double outlet right ventricles and ventricular septal defects (Li et al., 2011).
The Shp2-mutant mice have multiple heart defects, including ventricular septal defects (VSDs), atrial septal defects (ASDs) and double-outlet right ventricle (DORV), all of which are observed in individuals with NS.
Multiple congenital heart defects have also been reported in association with unroofed CS, including atrioventricular valve atresia, ASD, VSD, anomalous pulmonary venous connection, cor triatriatum (Fig. 7) and tetralogy of Fallot [18, 19].
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by Coloboma, Heart defects, Atresia of choanae, Retardation of growth and/or development, Genital hypoplasia, and Ear anomalies often associated with deafness.
Thirdly, the annual and monthly statistics on infant deaths and stillbirths due to severe congenital heart defects were rounded to a multiple of five to preserve patients' anonymity.
In F1, a male fetus with multiple abnormalities including limb defects, craniofacial defects, anogenital defects, heart defects, a tracheal esophageal fistula and renal agenesis, we found the compound heterozygous mutations c.9598C>T p.3200P>SS) and c.1420G>T (p.474V>F) in PRKDC (MIM 600899, ENST00000338368).
CHARGE syndrome is a multiple congenital anomaly syndrome with variable occurrence of Coloboma, Heart defects, Atresia of choanae, Retardation of growth or development, Genital hypoplasia, and Ear abnormalities and deafness.
A breakthrough in the manufacture of synthetic blood vessels has raised hopes that children born with serious heart defects could be treated in a single operation instead of multiple rounds of open heart surgery.
Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency.
