1. A Review of Congenital Heart Disease
February 11, 2008

2. Presentation
Symptomatic infants with congenital heart disease will have one or more of the following three main presentations:
Cyanosis
Heart Failure
Shock
Infants with ductal dependent lesions usually present in the first week of life and are often critically ill

3. Presentation
Infants with heart failure have nonspecific symptoms and signs, which are frequently very different from those of older children and adults.
Symptoms can include poor feeding, weight loss, FTT, palpitations, apnea, chest pain, syncope, and fever.
Signs can include murmurs, hypertension, dysrhythmias, respiratory distress or failure, cyanosis, heart failure, and shock.

4. Presentation: Vitals Hypertension Hypotension
Can be a manifestation of underlying cardiovascular diseases including coarctation and aortic stenosis
Hypotension
Can be due to poor cardiac output from sepsis or shock
A difference in blood pressure and/or pulses between the extremeties suggests coarctation of the aorta or an interruption of the aortic arch

5. Presentation
Although a significant murmur implies the presence of cardiac disease, the absence of a murmur does not rule out underlying heart disease
Some heart defects (for example transposition of the great arteries) may not have a murmur initially or may have only a nondescript murmur (e.g. single ventricle)

7. Physical Exam
Abnormal heart sounds are a clue that underlying heart disease is present
A wide, fixed, split S2 is characteristic of an atrial septal defect
With pulmonary atresia or truncus arteriosus, S2 is single

8. Physical Exam
After the first day of life, a systolic ejection click is always abnormal and is found with dilation of the aorta or pulmonic trunk
The murmur of a patent ductus arteriosus is a continuous, even murmur “machine-like,” best heard in the left scapular area

9. Presentation
Hepatosplenomegaly can occur with right-sided heart failure
Palpation of the pulses can reveal bounding pulses with a wide pulse pressure indicative of a patent ductus arteriosus or aortic insufficiency, or the weak thready pulses occurring with low cardiac output
Ashen, blue, grey, cold, clubbed, edematous and clammy extremities suggest a cyanotic lesion

10. Presentation
Because specific cardiac defects are associated with chromosomal abnormalities, abnormal facies, or skin lesions can be a clue to underlying congenital heart disease

11. Heart Failure
The usual age at which a large left-to-right shunt will become symptomatic is about six weeks

12. Heart Failure
At birth there is a marked initial decrease in the pulmonary vascular resistance followed by a continued slow drop over the next 2-6 weeks of life, with more blood being shunted from left to right
Infants with these defects are asymptomatic at birth, and symptoms appear and gradually worsen over the next few weeks

13. Heart Failure
The classic heart failure triad in infancy is tachypnea, tachycardia, and hepatomegaly
Pallor and diaphoresis are additional findings in infants
Rales may be heard on auscultation, but the absence of rales does not rule out heart failure

14. Ductal-Dependent Congenital Heart Defects
Many patients with congenital heart defects depend on a patent ductus arteriosus for blood flow

15. PDA
When the ductus arteriosus closes, patients with ductal-dependent lesions develop symptoms of acute heart failure and cardiogenic shock with circulatory collapse
Closure of the ductus usually occurs during the first week of life

16. PDA
Functional closure occurs in the first hours of life, although anatomic closure can be delayed for 2-3 weeks because of hypoxia, acidosis, and prematurity
The classic presentation of patients with ductal-dependent lesions is an infant, asymptomatic at birth and in the first few hours or days of life, who develops shock/circulatory collapse toward the end of the first week of life or in the first few weeks of life

17. Who gets Prostin?
For symptomatic patients with ductal-dependent congenital heart defects, a PGE1 infusion will keep the ductus arteriosus open until definitive therapy can be undertaken via interventional cardiac catheterization or surgery

18. Prostin
PGE1 is given as an infusion, using the mimimum effective dose because side effects are dose dependent and include:
Apnea
Hypotension
Bradycardia
Seizures
Tremors
Because of the side effects, patients are usually intubated prior to beginning PGE1

19. PDA in preemies
PDA is the most common cardiovascular abnormality in preterm infants
It occurs in up to 60% of infants born at less than 28 weeks gestation
A significant L  R shunt through a PDA increases the morbidity and mortality of these infants.
Cyclooxygenase inhibitors such as indomethacin or ibuprofen are used to induce closure of the PDA in preterm infants

20. Cyanotic Infants
The “five Ts” are common etiologies of cyanotic congenital heart disease:
Tetralogy of Fallot
Transposition of the great arteries
Truncus arteriosus
Tricuspid valve abnormalities
Total anomalous pulmonary venous return
The letter “S” is added to include severe or “critical” pulmonic stenosis

21. Cyanotic lesions
The first priority is to determine whether the etiology of the cyanosis is cardiac or noncardiac
The hyperoxia test or oxygen challenge test can make this clear.
The patient is placed on 100% oxygen:
If pulmonary disease is present, the PaO2 should rise by 30 mmHg or to >150 mmHg, and the pulse ox should rise by at least 10%
There will be negligible or minimal improvement if the cyanosis is due to CHD

22. Cyanotic CHD with Decreased Pulmonary Blood Flow
Cyanotic CHD with decreased pulmonary blood flow include:
Severe tetralogy of Fallot
Pulmonary atresia
Tricuspid atresia
Severe Ebstein anomaly
HRHS
Critical or severe pulmonic stenosis

23. Cyanotic CHD with Decreased Pulmonary Blood Flow
These lesions usually are ductal dependent
These patients will present critically ill and cyanotic (and sometimes with heart failure and shock) in the first few hours or days of life when the ductus arteriosus closes
The management of such infants involves supporting the ABCs and administering PGE1

24. Tetralogy of Fallot
Tetralogy of Fallot is the most common cyanotic congenital heart defect after infancy, accounting for 5%-10% of all congenital heart disease
It consists of:
VSD
Obstruction of the RV outflow tract
Overriding aorta
RVH

25. Tetralogy of Fallot

26. Tetralogy of Fallot
Patients with TOF usually present as older infants with paroxysmal hypercyanotic attacks (tet spells)
However, TOF can present in neonates, critically ill and severely hypoxic with extreme pulmonic stenosis
These infants are dependent on a PDA for pulmonary blood flow, and prostin is necessary

27. Tetralogy of Fallot
Conversely are the “pink tets” who have mild right ventricular outflow tract obstruction and present with heart failure from the large LR shunt and have little or no cyanosis
Older infants and children can present with a tet spell, cyanosis, murmur, exercise intolerance, dyspnea on exertion, clubbing, poor growth, or failure to thrive

28. Tetralogy of Fallot Classic physical findings include:
Holosystolic VSD murmur at the left 3rd intercostal space
A systolic diamond-shaped pulmonic stenosis murmur at the left 2nd intercostal space
An abnormal second heart sound split with a soft P2

29. Tetralogy of Fallot Chest radiograph findings are:
cardiomegaly (especially RV)
Decreased pulmonary vascularity
The characteristic “boot-shaped” heart created by a concavity in the left heart border usually occupied by the pulmonary artery

30. “Boot Shaped”

31. Tetralogy of Fallot
“Boot-shaped”

32. Tetralogy of Fallot

33. Tetralogy of Fallot
Tet spells occur especially during the first 2 years of life
They can be precipitated by any physical activity or can occur spontaneously and can last a few minutes or for hours
Since there is a fixed right ventricular outflow tract obstruction, increased right-to-left shunting occurs

34. Tetralogy of Fallot Factors presdisposing to a tet spell include:
Dehydration
Anemia
Acidosis
decreased systemic vascular resistance
increased catecholamine levels

35. Tetralogy of Fallot Treatment: Calming the child Supplemental oxygen
Morphine calms/sedates the child, depresses respiration, decreases SVR, and decreases RVOT obstruction
Volume infusion can increase the RV preload and correct systemic hypotension
Propranolol is given as a negative inotropic on the RVOT

36. Tricuspid Valve Abnormalities
Tricuspid valve abnormalities include:
Tricuspid valve stenosis
Tricuspid valve displacement (Ebstein anomaly)
HRHS

37. Ebstein Anomaly
An Ebstein anomaly is the downward displacement of an abnormal TV into the RV
May be due to maternal use of lithium
Part of the TV—the anterior cusp—has some attachment to the valve ring, and the other valve leaflets are attached to part of the RV wall

38. Ebstein Anomaly

40. Cyanotic Congenital Heart Disease with Increased Pulmonary Blood Flow
Includes:
Transposition of the great arteries
Truncus arteriosus
Total anomalous pulmonary venous return

41. Transposition of the Great Arteries
Most frequent diagnosis in critically ill neonates with cardiac disease
Pulmonary artery arises from the LV and the aorta from the RV

42. Transposition of the Great Arteries

43. Transposition of the Great Arteries
Some mixing of blood is needed for survival through a:
Patent foramen ovale,
PDA, or
VSD

44. Transposition of the Great Arteries
“egg on a string” appearance
Narrow mediastinum and small thymus
Narrow cardiac silhouette

45. Truncus Arteriosus
A single arterial trunk overrides a VSD and receives mixed arterial and venous blood from the RV and LV
This one arterial trunk provides blood flow to the systemic, pulmonary, and coronary circulations
The one “truncal” valve is an abnormally formed semilunar valve

46. Truncus Arteriosus First few hours and days of life:
Pulmonary vascular resistance is highpulmonary blood flow is normal
Later during first month of life:
Pulmonary blood flow increases with the postnatal decrease in pulmonary vascular resistanceheart failure

47. Truncus Arteriosus
Cyanosis can be mild because of the increased pulmonary blood flow
Eventually Eisenmenger syndrome occurs if untreated

48. Truncus Arteriosus

49. Truncus Arteriosus

50. Total Anomalous Pulmonary Venous Return
The pulmonary veins return to and enter a structure other than the left atrium
Can be partial:
Some oxygenated blood enters the LA, and some enters another anomalous structure
acyanotic

51. Total Anomalous Pulmonary Venous Return
Can be total:
None of the pulmonary veins enter the LA
Cyanotic: complete mixing of both systemic and pulmonary venous return either at or before the RA
The mixed blood in the RA either is ejected into the RV or through an ASD or PFO into the LA

52. Total Anomalous Pulmonary Venous Return
When the anomalous pulmonary veins enter the brachiocephalic vein and the persistent left superior vena cava, there is a “snowman” or “figure 8” appearance created by a large supracardiac shadow along with the normal cardiac shadow

53. Total Anomalous Pulmonary Venous Return
“Snowman”
or “Figure 8”

54. Eisenmenger Syndrome
When a large LR shunt eventually causes increased pulmonary blood flow and volume overload to the lungs, resulting in pulmonary vascular disease/pulmonary hypertension
This causes a reversal to a RL shunt and cyanosis, often by teenage years or as a young adult

55. Eisenmenger Syndrome Symptoms: Cyanosis Exertional dyspnea Fatigue
Hemoptysis
palpitations

56. Eisenmenger Syndrome
Physical exam reveals a loud P2 from pulmonary HTN
The CXR will reveal decreased pulmonary vascularity
EKG shows RVH
Therapy involves pulmonary vasodilator therapy

57. References
Mace, S. Broken Hearts: Infants With Acyanotic Congenital Heart Disease. CDEM. 2007; 21(11): 2-9.
Mace, S. Broken Hearts: Infants With Cyanotic Congenital Heart Disease. CDEM. 2007; 21(11):
Multimedia Library. Childrens Hospital Boston.
Beerman, L; et al. Cardiology. Atlas of Pediatric Physical Diagnosis. Fifth Edition. 2007;