Types & causes of congenital heart diseases in children & adults

1. Congenital heart
disease
Professor Ali A. Hadi Al-Saady
University of Al-Ameed / College of Medicine
Department of Medicine

2. CHD – Epidemiology
• Congenital heart disease can be the result of defects in the
formation of the heart or great vessels or can arise because the
anatomical changes that occur during transition between the fetus
and the newborn child fail to proceed normally.
• Congenital heart disease usually presents in childhood but some
patients do not present until adult life.
• Incidence is about 0.8% of live births
• The most common CHD is Ventricular Septal Defect (VSD) , 30-40%
of all CHD .
• Bicuspid Aortic Valve – 1-2% of General Population.
• Inheritance in multifactorial ( genetic + Environmental causes like
drugs, radiation , infection, etc… ).

3. •Most of CHD diagnosed in newborn and
early childhood (VSD, AVSD, ToF, TGA,
CoA, PA, etc.).
•Some of them can be diagnosed in
adults: ASD (only smaller), CoA, ccTGA,
Ebstein disease of TV, etc. (generally less
serious forms)
CHD - Diagnosis

4. Presentation of congenital heart disease
throughout life
Birth and neonatal period
• Cyanosis Heart failure
Infancy and childhood
• Cyanosis Heart failure
• Arrhythmia Murmur
• Failure to thrive
Adolescence and adulthood
• Heart failure Murmur
• Arrhythmia Eisenmenger’s syndrome
• Hypertension
(coarctation) Complications of previous
cardiac surgery:
Arrhythmia related to
Scarring Heart failure secondary to
scarring

5. CLASSIFICATION OF CHD
ACYNOTIC
Volume or
Pressure
Overload
PDA, VSD,ASD,
Coartation ofAorta
PINK
BABY
CYNOTIC
OR
Pulmonary
Blood flow
Tetralogy of Fallot,
Transposition of
great vessels,
Tricuspid Atresia
BLUE
BABY
5

6. ASD, VSD, PDA , COA
Acyanotic lesions

7. Atrial septal defect ( ASD )
• Different anatomic types:
–Secundum ASD (80% of ASDs; located in the
region of the fossa ovalis and its surrounding)
–Primum ASD (15%, synonym: partial
atrioventricular septal defect (AVSD), located
near the crux, AV valves are typically malformed
resulting in various degrees of regurgitation (esp.
Mitral)
–Superior sinus venosus defect (5%, located
near the superior vena cava (SVC) entry.
–Inferior sinus venosus defect (1%, located
near the inferior vena cava (IVC) entry)

8. Atrial septal defect

9. ASD - echocardiography

10. Atrial septal defect -
pathophysiology
• Naturally L to R shunt (higher BP in LA)
• Volume overloading of RV – dilation RA+RV
• Arrhythmias (Atrial fibrillation, flutter) (5th
decade)
• Increase of transpulmonary flow – reactive
higher pulmonary vascular resistance
• severe PAH (only in 5%) and bidirectional shunt
(Eisenmenger physiology).

11. Atrial septal defect - diagnosing
• Most children are asymptomatic for many years and the
condition is often detected at routine clinical examination or
following a chest X-ray.
• Symptoms depend on size of ASD & amount of shunt,
generally may not present until 3rd decade of life.
• Symptoms – exertional shortness of breath, fatigue,
palpitation
• Signs – fixed splitting of the second heart sound, systolic
pulmonary flow murmur.
• ECG – RBBB, right axis deviation.

12. ECG in ASD

13. Atrial septal defect - treatment
• Surgical or trans-catheter device closure.
• Medical management is rarely indicated. If a significant shunt is
still present at around 3 years of age, closure is usually
recommended.
• Many secundum ASDs can be closed with an ASD closure device
in the catheterization laboratory.
• Primum and sinus venosus defects require surgical closure.
• Eisenmenger`s syndrome(severe PAH with high pulmonary
vascular resistance) – contraindication of closure

14. Atrial septal defect - treatment
• ASD secundum – (if possible catheterisation device closure is
prefer)

15. Ventricular septal defect ( VSD )

16. VSD

17. VSD- Pathophysiology
• Naturally L to R shunt (much higher BP in LV)
• If significant ( large ) defect:
• Volume overloading of LV – dilation
• Pressure overloading of RV – hypertrophy
• Increase of transpulmonary flow and blood
pressure in pulmonary aretry – reactive increase
pulmonary vascular resistance
• severe PAH and bidirectional shunt (Eisenmenger
physiology) is developed early (within 1st year)
• (Infants are operated in 3-5months)

18. VSD-Clinical features
• Flow from the high-pressure LV to the low-pressure RV during
systole produces a pansystolic murmur ( with thrill ), small
defects produce loudest murmurs with no other effects.
• a large defect produces a softer murmur with features of
heart failure.
• ECG : Biventricular hypertrophy.
• CXR : cardiomegaly

19. VSD- echocardiography

20. Ventricular septal defect - treatment
• Insignificant small (restrictive) defect (with loud systolic murmur
and high pressure gradient) : Conservative, only observation, IE
prophylaxis
• Significant large (unrestrictive) – (prefer) surgical closure or
trans-catheter closer according to site.

21. Coarctation of Aorta (CoA)
• Accounts 5-8% of CHD
• Circumscript narrowing typically located in the area where the
ductus arteriosus inserts.
• Often associated with:
• Bicuspid aortic valve (85%), Aortic Stenosis , Turner syndrome.

22. COA- Clinical features
• Aortic coarctation is an important cause of cardiac failure in the
newborn but symptoms are often absent in older children or adults.
• Symptoms:
Headaches may occur from hypertension proximal to the coarctation,
and occasionally weakness or cramps in the legs may result from
decreased circulation in the lower part of the body.
• Sings:
– upper body systolic hypertension, lower body hypotension, a blood
pressure gradient (20 mmHg) is significant CoA
– radio-femoral pulse delay ( weak or absent femoral pulses ).
– suprasternal thrill, vascular murmur in the back, or continuous
murmurs (due to collateral vessels).

23. CXR
• chest X-ray findings may
include rib notching of
the third and fourth ribs
from collaterals, ectatic
ascending aorta, kinking
or double contouring in
the descending aorta
(‘figure 3’ sign), widening
of the left subclavian
artery

24. Coarctation of Aorta - treatment
• Surgical correction is advisable in all but the mildest
cases.
• Catheterization (Balloon dilatation with or without stent)

25. Coarctation of Aorta - surgery

26. Patent Ductus Arteriosus( PDA)
• Normally, the ductus arteriosus closes soon after birth but in
this anomaly it fails to do so.
• Persistence of the ductus is often associated with other
abnormalities.
• Persistence of the ductus causes a continuous AV shunt from
the aorta to the pulmonary artery since pressure in the aorta
is higher than that in the pulmonary circulation.
• The volume of the shunt depends on the size of the ductus.
• A large left-to-right shunt in infancy may cause a considerable
rise in pulmonary artery pressure and sometimes this leads to
progressive pulmonary vascular damage.

27. PDA

28. PDA- Clinical features
• Small shunts there may be no symptoms for years, but
when the ductus is large, growth and development may
be retarded.
• with large PDA : Cardiac failure may eventually ensue,
dyspnoea being the first symptom.
• A continuous ‘machinery’ murmur is heard with late
systolic accentuation, maximal in the second left
intercostal space below the clavicle.
• Pulses are increased in volume ( Bounding pulses ).
• If left untreated → the pulmonary artery pressure may
rise until it equals or exceeds aortic pressure → The
shunt through the defect may reverse →Eisenmenger’s
syndrome.

29. Investigations
• ECG : Right or left
Ventricular
hypertrophy .
• Echocardiography is
the investigation of
choice ( diagnose the
defect & measure the
size of PDA & signs of
pulmonary
hypertension ).

30. Treatment of PDA
• A prostaglandin synthetase inhibitor (Indometacin or ibuprofen)
may be used in the first week of life to induce closure.
Medical
• Closure should be undertaken in infancy if the shunt is
significant and pulmonary resistance not elevated, but this may
be delayed until later childhood in those with smaller shunts.
Trans-catheter device closure
• For anatomically difficult lesions or if PDA is associated with
other CHD
Surgical

31. PDA Treatment
Device closure Surgical closure

32. TOF, TGA, TRICUSPID ATRESIA,
TRUNCUS ARTERIOSUS, HPLH
Cyanotic lesions

33. Tetralogy of Fallot ( TOF )
• This is complex defect
consisting of right ventricular
outflow tract obstruction and
right ventricular hypertrophy,
a large ventricular septal
defect and an over-riding
aorta that, when combined
with the ventricular septal
defect, allows blood to be
pumped directly from the RV
into the aorta.
• It occurs in about 1 in 2000
births and is the most
common cause of cyanosis in
infancy after the first year of
life.

34. Clinical features of TOF
• Children are usually cyanosed
• The affected child may suddenly become increasingly
cyanosed, often after feeding or a crying attack, and may
become apnoeic and unconscious. These attacks are called
‘Fallot’s spells’.
• In older children, Fallot’s spells are uncommon but cyanosis
becomes increasingly apparent, with stunting of growth,
digital clubbing and polycythaemia.
• Some children characteristically obtain relief by squatting after
exertion, which increases the afterload of the left heart and
reduces the right-to-left shunting.
• On examination, the most characteristic feature is the
combination of cyanosis with a loud ejection systolic murmur
in the pulmonary area (as for pulmonary stenosis).

35. Hypercyanotic spells

36. Investigations
• Echocardiography is diagnostic and demonstrates that the
aorta is not continuous with the anterior ventricular septum.
• The ECG shows right ventricular hypertrophy .
• CXR shows an abnormally small pulmonary artery and a ‘boot-
shaped’ heart.

37. Management
• The definitive management is total correction of the defect by
surgical relief of the pulmonary stenosis and closure of the
ventricular septal defect. Primary surgical correction may be
undertaken prior to the age of 5 years.
• If the pulmonary arteries are too hypoplastic, then palliation
in the form of a Blalock–Taussig shunt may be performed, with
an anastomosis created between the pulmonary artery and
subclavian artery. This improves pulmonary blood flow and
pulmonary artery development, and may facilitate later
definitive correction.
• Treatment of cyanotic spells : squating (knee-chest position,
propranalol, oxygen ).

39. Transposition of the Great Arteries
• 3.8% of all congenital heart disease.
• In complete TGA, the aorta arises from the right ventricle
and the pulmonary artery from the left ventricle.
• As a result, the systemic venous flow (i.e., blood with low
oxygen content) is returned to the right ventricle and is
then pumped to the body through the aorta without
passing through the lungs for gas exchange.
• Oxygenation and survival depend on mixing between the
systemic and pulmonary circulations at the atrial,
ventricular, or PDA level ( 50% of cases have ASD, VSD,
PDA, other lesions )

40. Transposition of the Great Arteries (TGA)

41. Clinical Manifestations
• A history of cyanosis is always present, although it depends on
the amount of mixing.
• Quiet tachypnea and a single S2 are typically present.
• If the ventricular septum is intact, there may be no murmur.
• Children with transposition and a large VSD have improved
intracardiac mixing and less cyanosis. They may present with
signs of heart failure. The heart is hyperdynamic, with
palpable left and right ventricular impulses. A loud VSD
murmur is heard with single S2.
• ECG : RV Hypertrophy, Right axis deviation.
• CXR : increased pulmonary vascularity, and the cardiac
shadow is classically an egg on a string.
• Echocardiography: shows TGA & associated lesions.

42. TGA : CXR

43. Treatment
• Initial medical management includes prostaglandin E1 to
maintain ductal patency.
• If significant hypoxia persists on prostaglandin therapy, a
balloon atrial septostomy improves mixing between the two
circulations ( to create ASD in order to mix blood to allow
oxygenation).
• Complete surgical repair is most often an arterial switch. The
arterial switch usually is performed within the first 2 weeks of
life, when the left ventricle can still maintain systemic
pressure.

44. (TGA) Treatment
Arterial switch operation Balloon atrial septostomy

45. Tricuspid Atresia

46. TRICUSPID ATRESIA
• The absence of the tricuspid valve results in a hypoplastic
right ventricle.
• All systemic venous return must cross the atrial septum into
the left atrium. A PDA or VSD is necessary for pulmonary
blood flow and survival.
• Infants with tricuspid atresia are usually severely cyanotic and
have a single S2. If a VSD is present, there may be a murmur.
Treatment :
• If there is no VSD, or it is small, prostaglandin E1 maintains
pulmonary blood flow until surgery.
• Subclavian artery-to-pulmonary shunt (Blalock-Taussig
procedure) initially.
• Then final surgery.

47. Other cyanotic CHD
Truncus Arteriosus Hypoplastic left heart
syndrome