CHD Overview, Incidence, Causes, Echo Indications

Question 1

What is the number one most common congenital disorder in newborns?

Answer 1

Congenital heart disease

Question 2

What is the prevalence of congenital heart disease in LIVE BIRTHS?

Answer 2

Approximately 1%
(8 to 9 per 1000)

Question 3

What percentage of congenital heart disease is an isolated anomaly

Answer 3

70%

Question 4

What percentage of fetal congenital heart disease cases are associated with other anomalies?

Answer 4

30%

Question 5

What is the prevalence of congenital heart disease in the FETUS? Why is this different than the prevalence in live births?

Answer 5

4-5% incidence in FETUSES, the difference being due to miscarriage, intrauterine, fetal demise, and terminations.

Question 6

What is the #1 most common congenital, heart disease in live births, stillborns, and abortuses?

Answer 6

Ventricular septal defect (VSD)

Question 7

What is the #1 most common congenital heart disease in the general population?

Answer 7

Bicuspid aortic valve

Question 8

Why is the most common congenital heart defect different in the live births versus general populations? And what is the most common defect for each of these populations?

Answer 8

The most common congenital heart defect in the live births population is a VSD. The most common congenital heart defect in the general population overall is bicuspid aortic valve. The difference is because the majority of VSDs close on their own after birth.

Question 9

VSDs represent what percentage of CHD at birth?

Answer 9

36%

Question 10

What is the second most common congenital heart disease at birth? Percentage?

Answer 10

ASD (9.4%)

Question 11

What are the three main categories of causes of CHD?

Answer 11

Genetics, environment, and chance

Question 12

True or false? Most cases of CHD can be traced back to a single cause.

Answer 12

False. 70 to 80% are multi factorial.

Question 13

What are the three cardiac anomalies most commonly associated with chromosomal abnormalities

Answer 13

Ventricular septal defect (VSD), atrio-ventricular septal defect (AVSD) and tetralogy of Fallot

Question 14

Which congenital heart defects are least likely to be associated with a chromosomal abnormality

Answer 14

Dextro-transposition of the great arteries (D-TGA or complete transposition) and
Heterotaxy (atrial isomerism)

Question 15

Which congenital heart defects are most likely to be associated with extra cardiac anomalies?

Answer 15

Tetralogy of Fallot, Coarctation, and pulmonary stenosis

Question 16

What is the general term for an unexpected or abnormal arrangement of the internal organs?

Answer 16

Heterotaxy

Question 17

What range of conditions does the term heterotaxy include?

Answer 17

Situs inversus totalis, left atrial isomerism (polysplenia) and right atrial isomerism (asplenia)

Question 18

What is another name for dextro-transposition of the great arteries?

Answer 18

Complete transposition

Question 19

Indications for fetal echo are divided into what two categories?

Answer 19

Maternal indications and fetal indications

Question 20

Name five maternal indications for a fetal echo

Answer 20

Maternal auto immune disease (such as lupus or Sjogren’s syndrome)
Familial inherited disorders (example 22q11 deletion)
In vitro fertilization (IVF)
Maternal metabolic disease (eg diabetes, or phenylketonuria)
Maternal teratogen exposure (anticonvulsants, lithium, retinitis acids, NSAIDs etc)

Question 21

Name eight fetal indications for a fetal echo

Answer 21

Abnormal ultrasound.
First-degree relative of a fetus with a CHD.
Abnormal heart rate or rhythm
Chromosome abnormality
Extracardiac anomaly
Hydrops.
Increased NT
Monochorionic twins.

Question 22

True or false most cases of congenital heart disease are associated with a known risk factor

Answer 22

False. Most cases of CHD have no known risk factor.

Question 23

True or false: advanced maternal age is currently a fetal echo indication

Answer 23

False. AMA is not currently an echo indication, unless a chromosome defect is found.

Question 24

True or false: maternal BMI is currently an indication for a fetal echo

Answer 24

False. Recent AIUM statements say there is limited data. It is not currently an official indication for an echo.

Question 25

What is the incidence of CHD in fetuses with increased nuchal translucency greater than or equal to 3.5 mm or above the 99th percentile for gestational age.

Answer 25

3% (chromosomally normal babies after amnio testing with isolated thick NT)

Question 26

What heart defects are commonly noted with fetal hydrops

Answer 26

Cardiomyopathy and arrhythmias

Question 27

What heart defects are most commonly associated with abnormal rates or rhythms?

Answer 27

AVSD, cc-TGA, Ebstein Anomaly

Question 28

If complete heart block is noted in a fetus, what is mom subsequently tested for?

Answer 28

Auto immune diseases

Question 29

In cases of maternal auto immune disease, what congenital heart defects are most commonly noted

Answer 29

Complete heart block, and if mom has been treated with steroids, a constricted ductus arteriosus in late pregnancy

Question 30

Congenital heart disease is found in what percentage of IVF cases

Answer 30

3%

Question 31

What is the incidence of CHD in a fetus with one sibling affected by CHD

Answer 31

2-4%

Question 32

What is the risk of CHD in a fetus with two or more siblings affected by CHD

Answer 32

10%

Question 33

True or false, the incidence of CHD is the same, whether a fetus has one or multiple siblings affected by CHD

Answer 33

False. The risk goes from 2 to 4% for one affected sibling up to 10% for two or more affected siblings.

Question 34

What is the risk of CHD in a fetus if the mother of the fetus has a CHD?

Answer 34

10-12%

Question 35

What is the risk of CHD in a fetus if the father of the fetus has a CHD

Answer 35

1-3%

Question 36

True or false. The risk of CHD in a fetus is the same if its mother has a CHD as if it's father has a CHD. The sex of the parent is not a factor.

Answer 36

False. The risk in a fetus if it's mom has a CHD is 10 to 12%. The risk if it's father has a CHD is only 1 to 3%

Question 37

What is another name for 22q11 deletion

Answer 37

DiGeorge Syndrome

Question 38

What type of CHD is associated with DiGeorge syndrome

Answer 38

Conotruncal defects and VSD

Question 39

What is the incidence of CHD in DiGeorge syndrome and what is the most common defect?

Answer 39

95%, conotruncal defects

Question 40

Fetus with pulmonary stenosis, will be tested for what syndrome

Answer 40

Noonan syndrome

Question 41

Noonan syndrome is associated with what type of CHD

Answer 41

Pulmonary stenosis

Question 42

What is the incidence of CHD in Noonan syndrome, and what is the most common defect?

Answer 42

65%, pulmonary stenosis

Question 43

7q11.23 deletion is also known as

Answer 43

William syndrome

Question 44

What types of CHD are commonly associated with William syndrome

Answer 44

Aortic stenosis, pulmonary stenosis, and VSD

Question 45

What is the incidence of CHD in William syndrome?

Answer 45

100%

Question 46

Trisomy 13 is also known as

Answer 46

Patau syndrome

Question 47

What is the incidence of CHD in trisomy 13?

Answer 47

90%

Question 48

What CHD's are associated with trisomy 13?

Answer 48

VSD, ASD

Question 49

Trisomy 18 is also known as

Answer 49

Edward syndrome

Question 50

What is the incidence of CHD in trisomy 18?

Answer 50

99%

Question 51

Congenital heart disease is most common in which of the following: trisomy 13, trisomy 18, or trisomy 21

Answer 51

Trisomy 18

Question 52

Trisomy 21 is also known as

Answer 52

Down Syndrome

Question 53

The incidence of CHD in trisomy 21 is

Answer 53

50%

Question 54

Trisomy 21 is most commonly associated with what type of CHD

Answer 54

AVSD

Question 55

Turner syndrome is also known as

Answer 55

Monosomy X or 45X

Question 56

What is the incidence of CHD in cases of Turner syndrome

Answer 56

25%

Question 57

Turner syndrome is most commonly associated with what type of CHD

Answer 57

Coarctation

Question 58

You observe an atrio-ventricular septal defect in a fetus. This finding is commonly associated with what chromosomal abnormality

Answer 58

Trisomy 21/down syndrome

Question 59

You observe coarctation of the aorta. This finding is most commonly associated with what syndrome?

Answer 59

Turner syndrome / monosomy X / 45X

Question 60

A patient was given indomethacin to counteract premature labor. She is sent for a fetal echo. What condition are you most concerned about?

Answer 60

Premature closure of the ductus arteriosus.

Question 61

A patient has been taking lithium. Historically, which, cardiac anomaly are you most concerned about?

Answer 61

Ebstein anomaly

Question 62

What percent of cases of CHD are minor and easily corrected by surgery

Answer 62

50%

Question 63

What percent of cases of CHD are diagnosed by the first week of life

Answer 63

46%

Question 64

What percent of cases of CHD are diagnosed by the first year of life

Answer 64

88%

Question 65

What percent of cases of CHD are diagnosed by the fourth year of life,

Answer 65

98%

Question 66

Which exam indication has the highest yield for finding a CHD in fetal echo?

Answer 66

Suspected cardiac anomaly on routine screening ultrasound

Question 67

What nuchal translucency cut off is currently used as an indication for a fetal echo

Answer 67

Greater than or equal to 3.5 mm.

Question 68

True or false: gestational, diabetes diagnosed beyond the first trimester of pregnancy increases the risk of CHD in the fetus, and indicates an echo

Answer 68

False. However, pre-gestational diabetes increases the risk of CHD by five times.

Question 69

In what scenario is gestational diabetes, diagnosed beyond the first trimester, considered an indication for an echo

Answer 69

When there's poor glycemic control in either pre-gestational or gestational diabetes, a 3rd trimester echo is indicated to assess for ventricular hypertrophy where HbA1c has been greater than 6% in 2nd trimester.