This document discusses several types of congenital heart disease including aortic stenosis, coarctation of the aorta, tetralogy of Fallot, and transposition of the great arteries. It describes the anatomy, clinical manifestations, diagnostic testing, and treatment options for each condition. Key signs and symptoms include cyanosis, cardiac murmurs, reduced exercise tolerance, and heart failure. Echocardiography and cardiac catheterization are important diagnostic tools. Surgical repair is often needed to correct structural abnormalities.

1. Congenital Heart Disease
MD.Kiyumars Karimi

2. Congenital aortic stenosis
• Congenital valvular stenosis
• Subaortic stenosis
• supravalvular aortic
stenosis
• hypertrophic obstructive
cardiomyopathy
LV outflow
obstruction
causes

3. Aortic Stenosis Subvalvular
Supravalvular
Valvular
(HCM; IHSS

4. Aortic stenosis
• Bicuspid aortic valve M>F
• may go undetected in early life
• difficult to distinguish from acquired rheumatic or
degenerative calcific aortic valve disease
• significant obstruction causes concentric
hypertrophy of LV wall

6. Clinical manifestations
• Cardinal Symptoms
– Syncope/Dizziness (exertional pre-syncope)
– Angina (chest pain)
– Dyspnea on exertion & rest
– Impaired exercise tolerance
• Other signs of LV failure
– Diastolic & systolic dysfunction

7. Laboratory Examination
• ECG
• Echocardiogram
• Chest X-Ray
• Catheterization

8. Treatment
Medical treatment
• Prophylaxis against infective endocarditits
• Diminished cardiac reservation
• Digoxin
• Diuretic
• Salt restriction
• Aortic root dilation
• Beta blocker
• Avoid strenuous physical activity

10. Subaortic stenosis
• The most common form is idiopathic hypertrophy
• The discrete form consists of a membranous
diaphragm or fibromuscular ring encircling the LV
outflow tract just beneath the base of the aortic
valve.
• Treated by complete excision of the membrane or
fibromuscular ring

12. Supravalvular AS
• Localized or diffuse narrowing of the ascending aorta
• Coronary arteries are subjected to elevated systolic
pressures from the left ventricle.
• A genetic defect on chromosome 7

13. Coarctation of Aorta
Morgagni
1st
description in
1760
Bonnett
postductal &
preductal type
in 1903
Crafoord
1st
coarctation
repair in 1944
Vorsschulte
prosthetic
onlay graft or
vertical
incisionclosure
in 1957
Waldhausen
subclavian
patch
aortoplasty in
1966

14. Coarctation of the Aorta
• May occur anywhere along aorta length
• Occurs in ~7% of patients with CHD
• M>F
• Frequent in patients with gonadal dysgenesis
• manifestations depend on
– Site and extent of obstruction
– associated cardiac anomalies
• Circle of Willis aneurysms may occur in up to 10%

15. Clinical manifestation
• Symptoms
– Asymptomatic
– Headache
– Epistaxis
– Cold extremities
– Claudication
• Signs
– Heart murmur
• midsystolic murmur over the left interscapular space
– Radiofemoral delay
– Palpable collateral vessels in the intercostal spaces

16. Complications
• Chief hazards of proximal aortic severe hypertension
include:
– cerebral aneurysms and hemorrhage
– aortic dissection and rupture
– premature coronary arteriosclerosis
– LV failure
– infective endarteritis

17. Laboratory Examination
• ECG
• Echocardiogram
• Chest X-Ray
• Catheterization
• CT and MRI

18. Treatment
• Treatment is usually surgical.
• percutaneous catheter balloon with stent dilatation
• Follow-up of rest and exercise blood pressures is
important
• excessive systolic hypertension is seen during
exercise, in part due to a diffuse vasculopathy.

19. Tetralogy of Fallot
• Four components of the TOF are
1. Ventricular septal defect
2. Obstruction to RV outflow
3. RV hypertrophy
4. Over riding of AO

20. History
• Cyanosis during feeding
• Poor feeding
• fussiness, tachypnea, and agitation.
• Birth weight is low.
• Growth is retarded.
• Development and puberty may be delayed.

21. Clinical manifestation
• Clinical presentation is determined by RV outflow
obstruction
• Symptomatic any time after birth
• Paroxysmal attacks of dyspnea
– Anoxic spells
– Child cry
– Dyspnea
– Blue
– Lose conscious
– Convulsion

22. Clinical manifestation cont`
• Sitting posture – squatting
– Compensatory mechanism
– Squatting increases the peripheral vascular
resistance,
– which diminishes the
right-to-left shunt
– increases pulmonary
blood flow.

23. Physical examination
• Clubbing + Cyanosis (Variable)
• Squatting position
• Scoliosis – Common
• bulging left hemithorax

24. Signs
• S1 normal
• S2 single
– only A2 heard
– P2 soft & delayed: INAUDIBLE
• Murmur
– Shunt murmur (VSD) absent
– Flow murmur: Ejection systolic,
the smaller the flow the shorter
the murmur
• Ejection aortic click

25. ECG
•ECG

26. Chest X-rays
• Coeur en sabot
(boot-shaped heart)
secondary to uplifting
of the cardiac apex
from RVH
and the absence of a
normal main pulmonary
artery segment

27. Chest X-rays
• Normal heart size due
to the lack of
pulmonary blood flow
and congestive heart
failure

28. Chest X-rays
• Decreased pulmonary
vascularity

29. Chest X-rays
• Right atrial
enlargement
• Right-sided aortic arch
(20-25% of patients)
with indentation of
leftward-positioned
tracheobronchial
shadow

30. Echocardiography
• Reveals a large VSD
• overriding aorta
• variable degrees of right ventricular outflow tract
(RVOT) obstruction

31. Course and Complication
1) Each anoxic spell is potentially fatal
2) Polycytemia
• Cerebrovascular thrombosis
3) Anoxic infaction of CNS
• Neurological complication

32. Management of anoxic spell
1) Knee chest position
2) Humified O2
3) Be careful not to provoke the child
• Especially you are bad at gaining IV access
• Permit the baby to remain with mother
4) Morphine 0.1 -0.2 mg/Kg Subcutaneous
5) Correct acidosis – Sodium Bicarb IV

33. 6) Propanolol
1) 0.1mg/kg/IV during spells
2) 0.5 to 1.0 mg/kg/ 4-6hourly orally
7) Vasopressors: Methoxamine IM or IV drip
8) Correct anemia
9) GA is the last resort

34. Transposition of Great Areries (TGA)
• Aorta originating
from the right
ventricle, and
pulmonary artery
originating from the
left ventricle
• Accounts for 5-7% of
all congenital heart
disease

35. TGA
• Survival is dependent on the presence of mixing
between the pulmonary and systemic circulation
• Atrial septal defect is essential for survival
• 50% of patients have a VSD
• Usually presents in the first day of life with profound
cyanosis
• More common in boys

36. TGA
• Exam :
• cyanosis in an
otherwise healthy
looking baby
• Loud S2 ( aorta is
anterior )
• CXR :
• Egg on side
• Narrow
mediastinum

37. TGA .. Acute Management
• PGE-1 with no supplemental O2
Maintain ductus arteriosus patency, this will
increase the effective pulmonary blood flow, and
thence increase the left atrial pressure, therefore
inhance the left to right shunt at the atrial level
• Balloon atrial septostomy
Life saving procedure in the presence of inadequate
atrial septal defect

38. TGA .. Surgical Management
• Arterial switch
– with re-implantation of the coronary artery to the new
aortic site.
• Atrial switch :
– Redirecting the pulmonary and systemic venous return
to result in a physiologically normal state
– The right ventricle remains the systemic ventricle
– Rarely needed