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Congenital heart diseases occur in at least 10 per 1000 live-born children; the incidence is much higher in stillborn infants and in spontaneous abortuses. This figure excludes bicuspid aortic valves, patent ductus arteriosus in premature infants, and tiny muscular ventricular septal defects with respective incidences of 10 to 20, 4 to 5, and 30 to 40 per 1000 live-born children. The distributions of various common types of congenital heart diseases at birth are given in Table 484-1.

Table 484-1. Relative and Absolute Incidence of Major Congenital Heart Lesions and Their Recurrence Rates


Congenital heart diseases result from interaction between genetic and environmental factors.

Genetic Factors

Single classic mendelian mutant genes account for 3% of congenital heart diseases; 5% are caused by gross chromosomal aberrations, 3% by known environmental factors (eg, rubella, fetal alcohol syndrome), and the rest by multifactorial gene effects or single gene effects modulated by random events. The genetics of congenital heart disease are discussed in detail in Chapter 481.

Environmental Factors

Women taking lithium salts during pregnancy may have children with congenital heart diseases, with a high incidence of mitral and tricuspid valve lesions, especially Ebstein syndrome. Diabetic women or those taking progesterone in pregnancy have an increased risk of having children with congenital heart diseases. About half the children of alcoholic mothers have congenital heart diseases (usually left-to-right shunts). Retinoic acid used to ...

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