Congenital heart disease

1. Congenital Heart Disease

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

6. Etiology
Chromosomal abnormality (5-10%).
-Trisomy 21 (50%)
-Trisomy 18 (80%)
-Trisomy 13 (40%)
-Maternal infections >Rubella
-Maternal diseases> DM
-Drugs
-Advance maternal age.

7. Diagnosis
• Early diagnosis of C.H.D mean better results.
• 40% of C.H.D diagnosed at 1st wk of life.
• 50-60 % diagnosed at 1st two months .
• Others are usually later during routine medical
examination.
• Diagnosis depend on good clinical history +
good medical examination and investigations.

8. cont.
 Age of the patient.
 Ask for
-Feeding
difficulties
-Vomiting
-Lethargy
-Increased
perspiration
-Rapid respiration
-Hypoactivity
All may be manifestation of
congestive heart failure.
older child:-
History of dysnea on
exertion.
-Shortness of breathing.
-Orthopnea.
-Lower limbs swelling
-Palpitation.
-Convulsion.

9. Physical examination
Inspection look for:
-Cyanosis
-Digital clubbing
-Tachypnea
-Prominence of the precordium (cardiomegaly,Rt.heart enlargement )
-Jugular veins engorgement “older children”
-Any associated defects or findings (down syndrome)
- Focal neurological lesion.
Palpation
-Pulses (rate, rythem,volume,peripherial pulses ,brachio-femoral delay)
-Cardiac impulses.
-Hepato-splenomegaly
-Sacral edema(neonate, and infancy) ,Lower limb edema in older
children

11. Auscultation
 First heart sound (A-V valves closure)
“Best heard at the Lt. lower sternal border or apex”
 Second heart sound (semilunar valve closure)
“Best heard on the 1st and 2nd I.C.S” ,
 Murmurs - heard in systolic, dystolic , and
continuously
Difference in BP between upper and lower
extremities

12. Acrocyanosis:Bluish discoloration of the
hands and feet commonly seen in newborns

13. Investigation
CBC---- polycythemia, anemia….etc
 CXR----heart size and shape
 ECG---HR,rythm
Echocardiography
MRI
Cardiac catheterization

14. 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

15. 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
– Cardiac enlargement on CXR

16. Atrial Septal Defect

17. Atrial Septal Defect
• Three major types
– Ostium secundum
• 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

18.  Enlargement of the
right ventricle
 Enlargement of
atrium
 Large pulmonary
artery
 increased pulmonary
vascularity .
Atrial Septal Defect

19. 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

20. ASD

21. Atrial Septal Defect

22. Ventricular Septal Defect
Small VSD
Asymptomatic
A loud, harsh, or blowing holosystolic
murmur.
Large VSD
dyspnea, feeding difficulties, poor growth,
recurrent pulmonary infections, and
cardiac failure in early infancy.

23. Ventricular Septal Defect

24. 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

25. 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

26. Ventricular Septal Defect
• Large VSDs with normal PVR
– 6-10 mm in diameter
– Usually requires surgery, otherwise…
– Will develop CHF age 3-6 months

27. 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

28. 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

29. 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

30. 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

31. Patent Ductus Arteriosus

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

33. 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

34. 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)

35. 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)

36. 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; 25:418-20.

37. Tetralogy of Fallot

38. 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

39. 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

40. Tetralogy of Fallot

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

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