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Chapter 479

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INCIDENCE

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Structural congenital heart diseases (left-to-right shunts, obstructive and regurgitant lesions, and right-to-left shunts) occur in 10 to 12 per 1000 live-born children; the incidence is 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. Incidences are similar in all countries, and annually ~1,500,000 are born with congenital heart disease.

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The distributions of various common types of congenital heart diseases at birth are given in Table 479-1.

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Table Graphic Jump Location
TABLE 479-1abcdefRELATIVE AND ABSOLUTE INCIDENCE OF MAJOR CONGENITAL HEART LESIONS AND THEIR RECURRENCE RATES
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ETIOLOGY

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

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Genetic Factors

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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.

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Environmental Factors

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The environmental factors are listed in Table 479-2.

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Table Graphic Jump Location
TABLE 479-2MAJOR ENVIRONMENTAL FACTORS KNOWN TO BE ASSOCIATED WITH CONGENITAL HEART DISEASE

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