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Fetal Echo > Incidence of Congenital Heart Disease > Flashcards

Incidence of Congenital Heart Disease Flashcards

General population Heredity Chromosomal Syndromes Extracardiac anomalies

1
Q

Of all live-born infants, how many will have a cardiac defect?

A. 1:1000 infants
B. 4:1000 infants
C. 8:1000 infants
D. 10:1000 infants
E. 20:1000 infants
A

C. 8:1000 infants

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2
Q

Excluding bicuspid aortic valve, this heart defect is the most commonly recognized cardiac lesion found in live-born infants. It accounts for 30% of all cardiac defects:

A. Atrial septal defects
B. Coarctation of the aorta
C. Ventricular septal defects
D. Atrioventricular septal defects
E. Aortic stenosis
A

C. Ventricular septal defects

Most ventricular septal defects occur in isolation and account for 30% of all cardiac defects in live-born infants. Ventricular septal defect is the most common recognizable heart lesion.

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3
Q

Of all the infants born with a congenital heart defect, what percentage of these infants will have an abnormal karyotype?

A. 1-5%
B. 8%
C. 13%
D. 35%
E. 50%
A

C. 13%

The incidence of an abnormal karyotype in live-born infants with a congenital heart defect is approximately 13%. The incidence of an abnormal karyotype in the fetus with a congenital heart defect has been reported to be approximately 35%.

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4
Q

A fetus is diagnosed with a congenital heart defect during a routine ultrasound exam. The risk this fetus has an extracardiac defect is:

A. 2-5%
B. 10-20%
C. 25-45%
D. 50%
E. 100%
A

C.25-45%

The incidence of extracardiac defects in a fetus diagnosed with a congenital heart defect is approximately 25-45%. Some extracardiac malformations carry a high risk for association with heart defects, while others carry a low risk.

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5
Q

The risk of a heart defect in cases of situs inversus with extreme levocardia is:

A. 2%
B. 10%
C. 25%
D. 90%
E. Nearly 100%
A

E. Nearly 100%

Situs inversus with levocardia is extremely rare. All cases will have an associated congenital heart defect, commonly corrected transpositon of the great arteries, DORV, and systemic venous anomalies.

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6
Q

If the fetal abdominal organs are properly arranged but the fetal heart is positioned in the right chest, the risk that the fetus has a heart defect is:

A. 2%
B. 10%
C. 25%
D. 95%
E. 100%
A

D. 95%

Situs solitus with dextrocardia is associated with a congenital heart defect in 95% of cases.

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7
Q

What is the risk for a heart defect if the fetal situs is situs solitus?

A. Less than 1%
B. 2%
C. 75%
D. 95%
E. Nearly 100%
A

A. Less than 1%

Situs solitus is a normal body configuration that carries a risk of less than 1% (8:1000) for a congenital defect.

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8
Q

Cardiomyopathies account for what percentage of all cases of heart disease in live-born patients?

A. Less than 1%
B. 2%
C. 10%
D. 20%
E. 30%
A

B. 2%

Cardiomyopathies account for approximately 2% of all cases of heart disease in live-born patients. There are three different presentations in the infant– congestive (dilated), hypertrophic, and restrictive.

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9
Q

What percentage of patients with Trisomy 21 (Down syndrome) has congenital heart defects?

A. 10%
B. 25%
C. 50%
D. 75%
E. 100%
A

C. 50%

Abnormal karyotype carries an increased risk for a heart defect. Trisomy 21 carries a risk of approximately 40-50%.

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10
Q

What chromosomal abnormality is associated with an atrioventricular septal defect in at lest 40% of the cases?

A. Trisomy 21 (Down syndrome)
B. Trisomy 13 (Patau syndrome)
C. Trisomy 18 (Edwards syndrome)
D. Turner syndrome (45 XO)
E. Noonan syndrome
A

A. Trisomy 21 (Down syndrome)

Atrioventricular septal defect has been associated with multiple syndromes and chromosome abnormalities. Atrioventricular septal defect accounts for 40% of heart defects in patients with Trisomy 21. (See also the explaniation for answer 9)

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11
Q

Atrial septal defects constitute what percentage of all congenital heart defects?

A. 2%
B. 5.4%
C. 6.7%
D. 8%
E. Greater than 10%
A

C. 6.7%

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12
Q

If a fetus has fetal alcohol syndrome, the risk of a cardiac anomaly is:

A. No increased risk
B. 2-4%
C. 5-10%
D. 25-30%
E. 40-50%
A

D. 25-30%

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13
Q

Aortic stenosis is associated with what percentage of newborns having a congenital heart defect?

A. 1-2%
B. 3-6%
C. 8-10%
D. 12-15%
E. 20-25%
A

B. 3-6%

Aortic stenosis occurs in approximately 3-6% of newborns with a congenital heart defect.

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14
Q

In which syndrome will there be a congenital heart defect almost 100% of the time?

A. 45 XO (Turner syndrome)
B. T13 (Patau syndrome)
C. T21 (Down syndrome)
D. T18 (Edwards syndrome)
E. Both B and D
A

E. Both B and D
(T13 (Patau syndrome) and T18 (Edwards syndrome)

The association of Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome) with a heart defect is nearly 100%.

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15
Q

If a fetus has a congenital heart defect diagnosed on a fetal ultrasound, what is the risk the fetus will have an abnormal karyotype?

A. 15%
B. 35%
C. 50%
D. 85%
E. 100%
A

B. 35%

The incidence of an abnormal karyotype in a fetus diagnosed with a congenital heart defect in utero would be 35%

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16
Q

What is the recurrence risk for a congenital heart defect if two or more siblings are affected?

A. No increased risk
B. 2-4%
C. 10%
D. 15-20%
E. >20%
A

C. 10%

With two or more siblings affected with a heart defect, the risk to the fetus is 10%.

17
Q

What is the recurrence risk for a congenital heart defect when the mother of the baby is affected?

A. No increased risk
B. 2-4%
C. 10-12%
D. 15-20%
E. >20%
A

C. 10-12%

If a mother of a fetus is affected, the risk to the fetus is 10-12%.

18
Q

What is the recurrence risk for a congenital heart defect when a single sibling is affected?

A. No increased risk
B. 2-4%
C. 10-12%
D. 15-20%
E. >20%
A

B. 2-4%

When a single sibling is affected, the risk to the fetus is 2-4%

19
Q

What cardiac heart defect has the highest recurrence rate?

A. Atrial septal defect
B. Ventricular septal defect
C. Bicuspid aortic valve
D. Univentricular heart
E. Transposition of the great arteries
A

B. Ventricular septal defect

20
Q

Polysplenia is associated with other cardiac anomalies in the following percentage of cases:

A. 8-10%
B. 10-12%
C. 25-45%
D. 50-60%
E. 90-95%
A

E. 90-95%

21
Q

Duodenal atresia is associated with a congenital heart defect in what percentage of cases?

A. 5.2%
B. 17.1%
C. 25.4%
D. 52.0%
E. 78%
A

B. 17.1%

22
Q

Univentricular heart accounts for the following percentage of heart defects:

A. Less than 1%
B. 1-3%
C. 4-6%
D. 8-10%
E. 12-20%
A

B. 1-3%

23
Q

When truncus arteriosus is diagnosed, the association with the following syndrome occurs in 21% of the cases:

A. DiGeorge syndrome
B. Down syndrome (Trisomy 21)
C. Turner syndrome (45 XO)
D. Noonan syndrome
E. Edwards syndrome (Trisomy 18)
A

A. DiGeorge syndrome

Fetal Echo (5 decks)

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