Chapter 479: Congenital Heart Disease

Antonio G. Cabrera; Julien I. E. Hoffman

INCIDENCE

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.

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

TABLE 479-1RELATIVE AND ABSOLUTE INCIDENCE OF MAJOR CONGENITAL HEART LESIONS AND THEIR RECURRENCE RATES

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TABLE 479-1RELATIVE AND ABSOLUTE INCIDENCE OF MAJOR CONGENITAL HEART LESIONS AND THEIR RECURRENCE RATES

Percentage of All CHD

Per Million Live-Born Children

% Recurrence

Lesion^a

25–75% (Median)

25–72% (Median)

Siblings

Offspring

Ventricular septal defect

27.1–42.0 (32.4)

1667–3142 (2267)

4–6

2–22

Atrial septal defect

6.8–11.7 (7.5)

403–910 (563)

2–14

Patent ductus arteriosus^b

5.3–11.0 (7.1)

350–774 (471)

2.5–3

2–11

Pulmonic stenosis

5.0–8.6 (7.0)

280–641 (404)

3–18

Coarctation of the aorta

3.8–5.8 (5.0)

289–419 (332)

2–7

2–8

Transportation of the great arteries

3.5–5.3 (4.5)

275–380 (327)

0^f–5

Tetralogy of Fallot

3.9–6.8 (5.2)

261–500 (311)

2–3

1–4

Atrioventricular septal defect^c

2.6–5.1 (3.8)

213–346 (284)

2–3

5–15

Aortic stenosis

3.3–5.9 (4.0)

155–339 (283)

3–18

Hypoplastic left heart^d

1.6–3.4 (2.9)

151–255 (230)

1–4

—

Hypoplastic right heart^e

1.4–3.2 (2.3)

105–197 (171)

Double-inlet left ventricle

0.7–1.7 (1.4)

54–126 (87)

Persistent truncus arteriosus

0.7–1.7 (1.4)

61–145 (86)

1–14

Double-outlet right ventricle

1.0–3.9 (1.2)

69–238 (79)

Total anomalous pulmonary venous connection

0.6–1.7 (1.0)

47–93 (53)

Miscellaneous

8.0–14.8 (11.4)

536–1058 (804)

^aThe lesions are arranged in order of absolute incidence rates.

^bExcluding preterm infants.

^cExcluding trisomy 21.

^dMainly aortic and mitral atresia.

^eMainly tricuspid atresia and pulmonary atresia with an intact ventricular septum.

^fClose to zero for simple transposition of the great arteries.

ETIOLOGY

Congenital heart diseases result from interactions 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.

Environmental Factors

The environmental factors are listed in Table 479-2.

TABLE 479-2MAJOR ENVIRONMENTAL FACTORS KNOWN TO BE ASSOCIATED WITH CONGENITAL HEART DISEASE

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TABLE 479-2MAJOR ENVIRONMENTAL FACTORS KNOWN TO BE ...

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