. Congenital disorders can be defined as structural or functional anomalies that occur during intrauterine life. Also called birth defects, congenital anomalies or congenital malformations, these conditions develop prenatally and may be identified before or at birth, or later in life Congenital heart disease is a general term for a range of birth defects that affect the normal way the heart works. The term "congenital" means the condition is present from birth. Congenital heart disease is one of the most common types of birth defect, affecting almost 1 in 100 babies born in the UK Congenital Heart Defects Types Atrial septal defect. Ventricular septal defect. Patent ductus arteriosus. Pulmonary stenosis. Tetralogy of Fallot. Other critical congenital heart defects.

1. CONGENITAL HEART
DISEASES
Dr Zahra Ameen

2. INTRO :
• Most common type of heart disease , caused by faulty embryogenesis during gestational
week 3-8
• There’s an overall male predominance
• ASD and PDA occur more commonly in females

3. ETIOLOGY :
1. Maternal rubella infection
2. Maternal alcohol abuse → septal defects
3. Maternal drug Rx and radiation
4. Genetic abnormalities
5. Chromosomal abnormalities

4. COMMON SIGNS AND SYMPTOMS:
1. Central cyanosis
2. Pulmonary hypertension
3. Clubbing of the fingers
4. Paradoxical embolism
5. Red. growth
6. Syncope

5. CLASSIFICATION
CYANOTIC HEART DISEASE
1. TOF
2. TGA
3. Tricuspid atresia
4. Truncus arteriosus
5. Eisenmenger’s synd
ACYANOTIC HEART DISEASE
• With left to right shunt:
ASD , VSD , PDA
• With no shunt:
1. Coarctation of aorta
2. Cong aortic stenosis
3. Pulmonary stenosis , tricuspid stenosis
4. Dextro
5. Ebstein’s anomaly

6. RIGHT TO LEFT SHUNT
• It refers to the malformations in which the blood from right side of the heart enters
the left side
• results in cyanotic diseases
• It occurs when there’s a shunt (opening) between atria , ventricles or great vessels +
right heart pressure >left heart pressure OR the shunt has a one-way opening

7. TETRALOGY OF FALLOT :
• Components : most common cyanotic heart lesion
• Consist of PROV
1. P = Pulmonary outflow obs
2. R = Right ventricular hypertrophy
3. O = Overriding aorta
4. V = VSD

9. CLINICAL FINDINGS
1. Cyanosis : it is the most common symptom
2. Fallot spells : cyanosis after feeding or crying
3. Older child : failure to thrive , clubbing , polycythemia , tet spells (fallot’s sign)
4. Murmur – ejection systolic murmur in pulmonary area (left upper sternal border)

10. DIAGNOSIS
1. Echocardio ( diagnostic test ) , It can clear all 4 abnormalities
2. ECG: ( right ventricular hypertrophy)
3. Chest x-ray :
• Hypertrophied right ventricle (boot-shaped heart)
• Diminished vascularity in lungs (abnormally small pulmonary artery)

11. RX
Definitive surgery (total correction of defects , should be done before 5 years of age ,
it should be done at about 12 months preferably )
Palliative surgery (Blalock – Taussig Shunt)
• It is done when pulmonary arteries are too hypoplastic
• Creating anastomosis between pulmonary artery and subclavian artery
• This improves pulmonary blood flow and development

13. TGA
• Characterized by
1. Aorta arising from right ventricle
2. Pulmonary artery arising from left ventricle
3. Aorta lies ant to the right of the pulmonary artery
4. Results in
• Separation of sys and pul blood flow
• Post natal survival req mixing of blood by VSD , ASD or PDA .

15. C/F +RX
• Most common cyanotic disease presenting in the immediate newborn period
• Risk is increased in infants of Diabetic mother’s
TREATMENT : SURGICAL CORRECTION
PROGNOSIS : poor without surgery

16. LEFT TO RIGHT SHUNT :
• Refers to the malformations in which the blood from left side of heart enters right
side
• Also called a-cyanotic , cyanosis is a late feature
• Presentation :
1. Pulmonary HTN
2. Right ventricular hypertrophy due to pulmonary HTN
3. LVH due to excess blood originating from right side of the heart
4. Reversal of shunt (RV pressure overrides LV pressure) ---- Eisenmenger’s synd
5. Late cyanosis
6. Examples ASD , VSD , PDA

17. VSD
• It refers to direct communication between ventricular chambers , common
• Site of defect : most common site at the junction of membranous & muscular portion
of interventricular septum

19. C/F
• A small shunt produces no symptoms
• A large shunt with normal Pul VR ( CCF , growth failure , recurrent respiratory
tract infections )
• A large shunt with high Pul VR (SOB , dyspnea on exertion , chest pain , syncope ,
cyanosis)
• Signs (sternal lift , murmur holosystolic with thrill , found at left intercostal space ,
the smaller the defect the louder the murmur)

20. DIAGNOSIS
• ECG : Biventricular hypertrophy
• CXR : enlargement of pulmonary artery (pulmonary plethora)
• Echocardio is diagnostic test
• Cardiac MRI , Cardiac catheterization

21. RX
• Small asymptomatic defect = no Rx
• Congestive heart failure = digoxin , diuretics , surgery
• Surgical repair is indicated when : pulmonary flow to systemic flow is >1.5:1 ,
patient with infective endocarditis
• Surgical repair is contraindicated in fully developed Eisenmenger’s synd
• Heart lung transplantation is the only effective treatment

22. ATRIAL SEPTAL DEFECT (ASD)
• Direct communication between atrial chambers
• Right to left shunt
• Types :
1. Secundum ASD (defect is due to deficient or fenestrated oval fossae (foramen
ovale)
2. Primum ASD (defect adjacent to atrioventricular septum )

24. C/F
• Most common in adults
• Does not become symptomatic before
age 30
• SYMPTOMS :
1. incidental detection
2. Dyspnea
3. Chest infection
4. Cardiac failure + Arrhythmias
• SIGNS :
1. Systolic ejection murmur along left
sternal border
2. Wide fixed splitting S2

25. DIAGNOSIS:
• CXR (cardiomegaly , enlargement of pulmonary artery )
• ECG (incomplete RBBB)
• Echocardio (most accurate investigation)

26. MANAGEMENT
• Surgical correction
• Excellent prognosis

27. PATENT DUCTUS ARTERIOSUS (PDA)
• Communication between aorta and pulmonary artery because the ductus arteriosus
remains open after birth
• Left to right shunt since the pressure in the aorta is higher than that in pulmonary
artery

29. C/F
• Associated with prematurity and congenital rubella infections
• First causes left to right shunt resulting in pul HTN and late cyanosis
• Murmur (continuous machinery murmur , best heard in 2nd intercostal space below
clavicle )

30. RX
1. Pharmacological closure (neonate)
• Prostaglandin synthase inhibitors like indomethacin , ibuprofen
• Used in the first week of life
2. Surgical correction:
• Ligation is indicated in the absence of pul HTN
• Surgery is contraindicated in presence of pul HTN and Eisenmenger’s synd
3. Keeping the PDA open:
• Prostaglandin E1 can be used to keep PDA open
• Open PDA can be useful in cases like TGA

31. COARCTATION OF AORTA:
• Segmental narrowing of aorta
• It affects male>females
• ASSOCIATIONS
1. Bicuspid aortic valve
2. Berry aneurysm of cerebral circulation
3. PDA
4. Turner synd (coarctation is the most
common defect )
5. Most common site : (where ductus
arteriosus joins the aorta)
• TYPES :
1. Pre-ductal type :
• Narrowing of aorta is proximal to the
ductus arteriosus (infantile type)
2. Post-ductal :
• Narrowing of aorta is distal to the ductus
arteriosus (adult type)

33. C/F
1. HTN in upper extremity
2. Hypotension and weak pulses in lower extremities
3. Radio-femoral delay
4. Systolic murmur

34. DIAGNOSIS
1. MRI most accurate method
2. Chest X-ray
• Identification of aorta at the site coarctation
• Dilatation before &after stenosis

35. RX
1. Surgical decompression :
• Standard treatment
• Performed early in childhood , to avoid persistent HTN

36. THANK YOU…