Congenital Aortic Stenosis in Childhood

摘要: Aortic valve stenosis is the obstruction to outflow from left ventricle because of an abnormal aortic valve. The discharge restriction systemic may also be produced by anomaly at a sub or supravalvar level. Nevertheless, most common site occurrence far annulus (70%). Although congenital frequently associated with other significant cardiovascular lesions (20%) such as hypoplastic heart syndrome, mitral disease and coarctation aorta, we will mainly discuss isolated in this chapter. Congenital accounts for approximately 5% all cases disease, reported incidences ranging 0.04 0.38 per 1000 live births (Botto et al., 2001; Hoffman & Kaplan, 2002). A clear male predominance (Wagner 1977) has been reported, gender ratio 4:1. There recent evidence familial predisposition anomalies (recurrence risk ~3% ~15% offspring affected father mother respectively). This valvar defect occurs sporadically however. controversy whether consanguinity influence on incidence disease; while some studies emphasized increased rate cardiac malformations (Badaruddoza 1994; Bassili 2000; Gatrad 1984), others failed show association (Robida 1997; Subramanyan 2000). Recent large case series demonstrated that parental increases well atrial septal tetralogy Fallot, wich supports involvement autosomal recessive genes its bearing (Nabulsi 2003; Chehab 2007). Lately, families dominant transmission was found secondary mutation NOTCH1 gene (Garg 2005). apparent contradiction could explained existence many where responsible inheritance, depending types mutations. Turner caused structural and/or functional aberrations X chromosome, (Bondy Syndrome Study Group, It 17 59% patients carrying chromosomal alteration are least one anomaly, aorta bicuspid valve, but dilatation root (Landin-Wihelmsen Sybert, 1998). authors have no correlation between karyotype