1. A Quick Tour of Congenital Heart Disease
Chris Longhurst, MD
Sunday, April 16, 2017

2. Introduction Present in 0.8% of North American and European children
Most common category of congenital structural malformation
Commonly divided into noncyanotic (L  R) and cyanotic (R  L) categories based on direction of shunting

3. Relative Frequency of Lesions
Ventricular septal defect
Atrial septal defect (secundum) 6-8
Patent ductus arteriosus 6-8
Coarctation of aorta
Tetralogy of Fallot
Pulmonary valve stenosis 5-7
Aortic valve stenosis
Transposition of great arteries 3-5
Hypoplastic left ventricle 1-3
Hypoplastic right ventricle 1-3
Truncus arteriosus
Total anomalous pulm venous return 1-2
Tricuspid atresia 1-2
Double-outlet right ventricle 1-2
Others

4. Noncyanotic CHD (L R) Atrial septal defects (ASD)
Ventricular septal defects (VSD)
Patent ductus arteriosus (PDA)
Obstruction to blood flow
Pulmonic stenosis (PS)
Aortic stenosis (AS)
Aortic coarctation

5. Atrial Septal Defect Most commonly asymptomatic
Essentials of diagnosis:
Right ventricular heave
S2 widely split and usually fixed
Grade I-III/VI systolic murmur at the pulmonary area
Widely radiating systolic murmur mimicking PPS in infancy
Cardiac enlargement on CXR

6. Atrial Septal Defect

7. Atrial Septal Defect Three major types Ostium secundum Ostium primum
most common
In the middle of the septum in the region of the foramen ovale
Ostium primum
Low position
Form of AV septal defect
Sinus venosus
Least common
Positioed high in the atrial septum
Frequently associated with PAPVR

8. Atrial Septal Defect Treatment
Closure generally recommended when ratio of pulmonary to systemic blood flow (qP/qS) is > 2:1
Operation performed electively between ages 1 and 3 years
Previously surgical; now often closed interventionally

9. Atrial Septal Defect

10. Ventricular Septal Defect
Single most common congenital heart malformation, accounting for almost 30% of all CHD
Defects can occur in both the membranous portion of the septum (most common) and the muscular portion

11. Ventricular Septal Defect

12. Ventricular Septal Defect
Three major types
Small, hemodynamically insignificant
Between 80% and 85% of all VSDs
< 3 mm in diameter
All close spontanously
50% by 2 years
90% by 6 years
10% during school years
Muscular close sooner than membranous

13. Ventricular Septal Defect
Moderate VSDs
3-5 mm in diameter
Least common group of children (3-5%)
Without evidence of CHF or pulmonary hypertension, may be followed until spontaneous closure occurs

14. Ventricular Septal Defect
Large VSDs with normal PVR
6-10 mm in diameter
Usually requires surgery, otherwise…
Will develop CHF and FTT by age 3-6 months

15. Ventricular Septal Defects
Clinical findings
Grade II-IV/VI, medium- to high-pitched, harsh pansystolic murmur heard best at the left sternal border with radiation over the entire precordium

16. Ventricular Septal Defect
Treatment
Indicated for closure of a VSD associated with CHF and FTT or pulmonary hypertension
Patients with cardiomegaly, poor growth, poor exercise tolerance, or other clinical abnormalities and a qP/qS > 2:1 typically undergo surgical repair at 3-6 mo

17. Patent Ductus Arteriosus
Persistence of normal fetal vessel joining the pulmonary artery to the aorta
Closes spontaneously in normal term infants at 3-5 days of age
Epi facts
Accounts for about 10% of all cases of CHD
Higher incidence of PDA in infants born at high altitudes (> 10,000 feet)
More common in females

18. Patent Ductus Arteriosus
Accounts for about 10% of all cases of CHD
Higher incidence of PDA in infants born at high altitudes (over 10,000 feet)
More common in females

19. Patent Ductus Arteriosus

20. Patent Ductus Arteriosus
Clinical findings and course depend on size of the shunt and the degree of associated pulmonary hypertension

21. Patent Ductus Arteriosus
Pulses are bounding and pulse pressure is widened
Characteristically has a rough “machinery” murmur which peaks at S2 and becomes a decrescendo murmur and fades before the S1

22. Patent Ductus Arteriosus
Treatment consists of surgical correction when the PDA is large except in patients with pulmonary vascular obstructive disease
Transcatheter closure of small defects has become standard therapy
In preterm infants indomethacin is used (80-90% success in infants > 1200 grams)

23. Cyanotic CHD (R L) Tetralogy of Fallot (TOF) Tricuspid atresia (TA)
Total anomalous pulmonary venous return (TAPVR)
Truncus arteriosus
Transposition of the great vessels
Hypoplastic left heart syndrome (HLH)
Pulmonary atresia (PA) / critical PS
Double outlet right ventricle (DORV)

24. Tetralogy of Fallot
“Cyanosis, especially in the adult, is the result of a small number of cardiac malformations well determined…. One…is much more frequent than the others…. This malformation consists of a true anatomopathologic type represented by the following tetralogy: (1) Stenosis of the pulmonary artery; (2) Interventricular communication; (3) Deviation of the origin of the aorta to the right; and (4) Hypertrophy, almost always concentric in type, of the right ventricle. Failure of obliteration of the foramen ovale may occasionally be added in a wholly accessory manner.”
Fallot, Ètienne-Louis-Arthur. Contribution to the pathologic anatomy of morbus caeruleus (cardiac cyanosis). Marseilles Med. 1888; 25:

25. Tetralogy of Fallot

26. Tetralogy of Fallot Most common cyanotic lesion (7 to 10% of all CHD)
Typical features
Cyanosis after the neonatal period
Hypoxemic spells during infancy
Right-sided aortic arch in 25% of all patients
Systlic ejection murmur at the upper LSB

27. Tetralogy of Fallot
Clinical findings vary depending on degree of RVOFT obstruction
Most patients are cyanotic by 4 months and it is usually progressive
Hypoxemic spells (“tet spells”) are one of the hallmarks of severe tetralogy

28. Tetralogy of Fallot

29. Tetralogy of Fallot
Tet spells most commonly start around 4 to 6 months of age and are charcterized by
Sudden onset or deepening of cyanosis
Sudden onset of dyspnea
Alterations of consciousness
Decrease in intensity of systolic murmur

30. Tetralogy of Fallot
Repair may be staged (modified BT shunt) or complete