Congenital Heart Disease

Question 1

Intrauterine risk factors for congenital heart disease

Answer 1

1) Maternal drug use (alcohol, lithium, thalidomide, phenytoin)
2) Maternal infections (rubella)
3) Maternal illness (diabetes, PKU)

Question 2

How are congenital heart diseases characterized?

Answer 2

By presence or absence of cyanosis

1) Acyonotic conditions (pink babies): L-R shunts. Oxygenated blood from lungs is shunted back into pulm circulations
2) Cyanotic conditions (blue babies): R-L shunts. Deoxygenated blood is shunted into systemic circulation

Question 3

What are some examples of acyanotic vs cyanotic heart conditions?

Answer 3

Acyonitc = 3 Ds.

1) vsD
2) asD
3) PDA

Cyanotic = 5 Ts

1) Truncus arteriosus = ONE arterial vessel overriding the ventricles
2) Transposition of the great vessels = TWO arteries switched
3) TRIcuspid atresia (THREE)
4) TETRAlogy of Fallot (FOUR)
5) Total Anomalous Pulmonary Venous Return (FIVE words)

Question 4

Which cyanotic heart defect causes severe cyanosis within the first few hours of life?

Answer 4

Transposition of the great vessels

Question 5

VSD

Answer 5

A condition in which an opening in the ventricular septum allows blood btw the ventricles

This is the #1 cause of congenital heart disease.

More common among patients with Apert’s Syndrome (cranial deformities, fusion of fingers and toes), Down Syndrome, Fetal Alcohol Syndrome, TORCH syndrome, cri du chat and trisomies 13 and 18

Question 6

What disorders is VSD linked to?

Answer 6

1) Apert’s Syndrome
2) Down Syndrome
3) Fetal Alcohol Syndrome
4) TORCH
5) Cri du Chat
6) Trisomy 13
7) Trisomy 18

Question 7

History and physical for VSD

Answer 7

1) Small defects: Usually ASx at birth, but exam reveals harsh holosystolic murmur heard best at lower L sternal border
2) Large defects: Can present as frequent respiratory infections, dyspnea, FTT, and CHF. If present, the holosystolic murmur is softer and more blowing but can be accompanied by a systolic thrill, crackles, hepatomegaly, a narrow S2 with an increased P2, and a mid-diastolic apical rumble reflecting higher flow across mitral valve

Question 8

Dx of VSD

Answer 8

ECHO

ECG can show LVH and may show both LVH and RVH with larger VSDs

CXR may show cardiomegaly and increased pulmonary vascular markings

Question 9

Tx of VSD

Answer 9

1) Most small VSDs close on their own; ASx patients should be monitored via Echo. Abx ppx may be considered during procedures but is indicated only if VSD was previously repaired with prosthetic material
2) Surgical repair is indicated in symptomatic patients who fail medical management, children younger than 1 year with signs of pulm HTN, and older kids with large VSDs that have not decreased in size over time
3) Treat existing CHF with diuretics (initial tx), inotropes and ACEIs

Question 10

ASD

Answer 10

Condition in which an opening in the atrial septum allows blood to flow btw atria, leading to L-R shunting.

Associated with Holt-Oram Syndrome (absent radii, ASD, first degree heart block), fetal alcohol syndrome and Down syndrome

Question 11

History and physical for ASD

Answer 11

1) Ostium primum defects present in early childhood with findings of a murmur or fatigue with exertion (also seen in Down syndrome). Ostium secundum defects (more common) tend to present in late childhood or early adulthod. Symptom onset and severity depend on size of the defect
2) Symptoms of easy fatigability, frequent respiratory infections, and FTT may be observed, but patients are frequently ASx
3) Exam reveals a RV heave; a wide and fixed, split S2; and a systolic ejection murmur at the L upper sternal border (from increased flow across pulmonary valve). May also be a mid-diastolic rumble at L lower sternal border

Question 12

Dx of ASD

Answer 12

ECHO with color flow. Doppler reveals blood flow btw atria (diagnostic), paradoxical ventricular wall motion, and a dilated RV

ECG may show RVH and right atrial enlargement. PR prolongation is common

CXR shows cardiomegaly and increased pulmonary vascular markings

Question 13

Tx of ASD

Answer 13

1) Close to 90% of defects close spontaneously, and most do not require treatment
2) Surgical or catheter closure is indicated in infants with CHF and in patients with more than a 2:1 ratio of pulmonary to systemic blood flow. Early correction prevents complications such as arrhythmias, RV dysfunction and Eisenmenger’s (L-R shunt leads to pHTN which reverses shunt)

Question 14

ASD and endocardial cushion defects

Answer 14

Down Syndrome

Question 15

PDA

Answer 15

Congenital rubella

Question 16

Coarctation of Aorta

Answer 16

Turner’s (may also have bicuspid aortic valve)

Question 17

Coronary artery aneurysm

Answer 17

Kawasaki Disease

Question 18

Congenital heart block

Answer 18

Neonatal lupus

Question 19

Supravalvular aortic stenosis

Answer 19

Williams Syndrome

Question 20

Conotruncal abnormalities

Answer 20

1) Tetralogy of Fallot (overriding aorta)
2) Truncus arteriosus
3) DiGeorge (tetralogy)
4) Velocardiofacial Syndrome

Question 21

Ebstein’s anomaly

Answer 21

Maternal lithium use during pregnancy

Question 22

Heart failure

Answer 22

Neonatal thyrotoxicosis

Question 23

Asymmetric septal hypertrophy and transposition of the great vessels

Answer 23

Maternal diabetes

Question 24

PDA info

Answer 24

Failure of ductus arteriosus to close in the first few days of life, leading to an acyanotic L-R shunt from aorta to pulmonary artery

Risk factors include: Maternal first-trimester Rubella infection, prematurity, and female gender

Question 25

History and physical for PDA

Answer 25

1) Typically ASx; patients with large defects may present with FTT, recurrent lower respiratory infections, lower extremity clubbing and CHF
2) Exam reveals a continuous, machine like murmur at the second L intercostal space at the sternal border, a loud S2, wide pulse pressure, and bounding peripheral pulses

Question 26

Dx of PDA

Answer 26

1) Color flow Doppler demonstrating blood flow from aorta into the pulmonary artery is diagnostic
2) With larger PDAs, echo shows L atrial and LV enlargement
3) ECG may show LVH and CXR may reveal cardiomegaly if lesions are large

Question 27

Tx of PDA

Answer 27

1) Give indomethacin unless the PDA is needed for survival (transposition of great vessels, tetralogy of fallot, hypoplastic L heart) or if indimethacin is contraindicated (IV hemorrhage)
2) If Indomethacin fails or if child is older than 6-8mo, surgical closure is required

Question 28

Infant presents in shocklike state within first few weeks of life. What is on the ddx?

Answer 28

1) Sepsis
2) Inborn errors of metabolism
3) Ductal-dependent congenital heart disease, usually a L sided lesion (as ductus is closing)
4) Congenital adrenal hyperplasia

Question 29

Coarctation of the aorta info

Answer 29

Constriction of a portion of the aorta, leading to increased flow proximal to and decreased flow distal to the coarctation. Occurs just below the L subclavian artery in 98% of patients.

Condition is associated with Turner’s Syndrome, berry aneurysms and male gender

More than two thirds of these patients have bicuspid aortic valve

Question 30

History and physical for coarctation

Answer 30

1) Often presents in childhood with ASx HTN (upper extremity HTN. This is a popular cause of secondary HTN in kids)
2) A murmur may be heard over the back btw the scapulae
3) Lower extremity claudication, syncope, epistaxis, and HA may be present
4) The classic physical exam finding is a systolic BP that is higher in the upper extremities; the difference in BP btw the L and R arm can indicate the point of coarctation.
5) Additional findings include weak femoral pulses, radiofemoral delay, a short systolic murmur in L axilla, and a forceful apical impulse
6) In infants, critical coarctation requires a patent PDA for survival. Such infants may present in first few weeks of life in a shocklike state when the PDA closes. Differential cyanosis may be seen with lower O2 sats in the L arm and lower extremities (postductal areas) as compared to R arm (preductal)

Question 31

Dx of coarctation

Answer 31

1) Echo and color flow doppler are diagnostic
2) CXR in young kids may demonstrate cardiomegaly and pulmonary congestion
3) In older kids, the following compensatory changes may be seen: LVH on ECG; the “3” sign on CXR due to pre-and postdilatation of the coarctation segment with aortic wall indentation; and rib notching due to collateral circulation through the intercostal arteries

Question 32

Tx of coarctation

Answer 32

1) If severe coarctation presents in infancy, the ductus arteriosus should be kept open with PGE1
2) Surgical correction or balloon angio is controversial
3) Monitor for restenosis, aneurysm development, and aortic dissection

Question 33

Transposition of the great vessels

Answer 33

The most common cyanotic congenital heart lesion in the newborn. (The most common cyanotic lesion in CHILD is Tetralogy)

Aorta is connected to RV and pulmonary artery to the LV. This creates parallel pulmonary and systemic circulations.

Without a septal defect and a PDA, it is incompatible with life. A PDA alone is usually not sufficient to allow adequate mixing of blood.

Risk is diabetic mom and rarely DiGeorge

Question 34

DiGeorge Syndrome

Answer 34

CATCH-22

Cardiac abnormalities (transposition) 
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11 deletion

Question 35

History and physical for transposition

Answer 35

1) Critical illness and cyanosis typically present within first few hours after birth. Reverse differential cyanosis may be seen if LV outflow tract obstruction (coarctation, aortic stenosis) is also present
2) Exam reveals tachypnea, progressive hypoxemia, and extreme cyanosis. Some patients have signs of CHF and a single loud S2 is often present. There may not be a murmur if no VSD is present. If a VSD is present, a systolic murmur may be heard at L sternal border

Question 36

Dx of transposition

Answer 36

1) Echo
2) CXR may show narrow heart base, absence of the main pulmonary artery segment, and “egg shaped silhouette” and increased pulmonary vascular markings

Question 37

Tx of transposition

Answer 37

1) Start IV PGE1 to maintain or open PDA
2) If surgery is not feasible within first few days of life or if the PDA cannot be maintained with PGE, perform baloon atrial septostomy to create or enlarge an ASD
3) Surgical correction (arterial or atrial switch) is definitive

Question 38

Tetralogy of Fallot

Answer 38

Consists of pulmonary stenosis, overriding aorta, RVH, and VSD. This is the most common cyanotic congenital heart disease in children.

Early cyanosis results from R-L shunt across VSD. As right sided pressures drop in the weeks after birth, the shunt direction reverses and cyanosis may decrease.

If the degree of pulmonary stenosis is severe, the R-sided pressures may remain high and cyanosis may worsen over time.

Risk is maternal PKU and DiGeorge

Question 39

History and physical for Tetralogy

Answer 39

1) Presents in infancy or early childhood with dyspnea and fatigability. Cyanosis is frequently absent at birth but develops over the first 2 years of life; the degree of cyanosis often reflects the extent of pulmonary stenosis
2) Infants are often ASx until 4-6mo of age, when CHF may develop and manifest as diaphoresis with feeding or tachypnea
3) Children often squat for relief during hypoxemic episodes called tet spells, which increases systemic vascular resistance
4) Hypoxemia may lead to FTT or mental status changes
5) Exam reveals a systolic ejection murmur at L upper sternal border (RV outflow obstruction), a RV heave, and a single S2

Question 40

Dx of tetralogy

Answer 40

1) Echo and catheterization
2) CXR shows boot shaped heart with reduced pulmonary vascular markings
3) ECG shows signs of R-axis deviation and RVH

Question 41

Tx of tetralogy

Answer 41

1) Lesions with severe pulmonary stenosis or atresia require immediate PGE1 to keep the PDA open along with urgent surgical consultation
2) Treat hypercyanotic “tet spells” with O2, propranolol, phenylephrine, the knee-chest position, fluids, and morphine
3) Temporary palliation can be achieved through the creation of an artificial shunt (balloon atrial septostomy) before definitive surgical correction (Blalock-Taussig Shunt)