A basic introduction to congenital heart diseases for bachelor's level medical and paramedical students.

1. Congenital Heart
Disease
A SUPERFICIAL BASIC INTRODUCTORY SESSION

3. Classification

4. Aetiology
• Hemodynamically significant malformations  .08% of total live births
• Common risk factor: maternal infection/ exposure to drugs & toxins
• e.g. maternal rubella  PDA
• pulmonary vascular &/or arterial stenosis
• ASD
• Alcohol misuse  septal defects
• Maternal SLE  congenital complete heart block
• Down’s syndrome  septal defects
• Genetic defects
• E.g. Marfan’s syndrome, DiGeorge’s Syndrome

5. INCIDENCE

6. CLINICAL FEATURES

7. Clinical s/s vary with anatomical defect
• e.g. coarctation of aorta
• radio femoral delay
• f/s/o turner’s synbdrome in some females
1. Central cyanosis and digital clubbing (seen in left to right shunting)
2. Growth retardation and learning difficulties (in large left to right shunts at
ventricular or great arterial level)
3. Syncope
• Inpresence of high pulmonary vascular resistance or severe L-> R ventricular outflow
obstruction,.
• Exercise  fall in systemic vascular resistance and increase in pulmonary vascular
resistance  worsens Rt. To Lt. shunt and cerebral oxygenation
1. Pulmonary HTN and Eisenmenger’s syndrome
• Differential cyanosis may be seen (feet> hands)

8. Persistent Ductus Arteriosus

9. Etiology
• Female > Male
• Usually associated with other anomalies
• Left to right shunt  upto 50% of LV output recirculated through lungs  increased
workload of the heart.

10. Clinical features
• small shunts  asymptomatic
• large shunts  retarded growth and development
• usually no s/s/ in infancy (later dyspnea to cardiac failure)
• continuous ‘machinery’ murmur with late systolic accentuation a/w thrill
• high volume
• Enlarged pulmonary artery is detected radiologically
• ECG will be normal
• Possibility of Eisenmenger’s Syndrome (ECG will show RVH)

11. MANAGEMENT
• Cardiac catheterization with implantable occlusive devices.
• Should be done in infancy if the shunt is significant;
• or can be awaited till early childhood in case of small shunt.
• ----------------------NB: closure will reduce the risk of IE------------------------
• Pharmacological treatment:
• PG synthetase inhibitor (indomethacin/ Ibuprofen) in 1st
week of life in structurally intact
ductus.
• PG therapy to keep ductus open and improve oxygenation if lung perfusion is impaired leading
to severe pulmonary stenosis and left to right shunt through ductus.

12. Coarctation of Aorta

13. Etiology
• Narrowing of the aorta in the region where ductus arteriosus joins the aorta
• M>F @ 2:1
• Incidence 1:4000 children
• Associated with bicuspid aortic valve (over 50% cases) and berry aneurysms of cerebral
circulation
• Acquired variant is rare but may follow trauma or occur as a complication of
progressive arteritis (Takayasu’s disease)

14. Clinical features
• Important cause of cardiac failure in newborns
• Usually asymptomatic if detected in older children and adults
• HTN proximal to the coarctation and decreased circulation in lower part leads to
headache and weakness/ leg cramps
• BP high in upper body but normal in lower body
• Femoral pulse – weak with radio femoral delay
• Systolic murmur + posterior to coarctation
• Ejection click +
• Systolic murmur in aortic area due to bicuspid aortic valve
• Aortic narrowing may lead to collaterals  localized bruits

15. INVESTIGATIONS
• Chest X-ray
 initially normal
 later, ‘3’ sign (indentation of descending aorta)
• MRI  ideal for demonstration
• ECG  may show LVH

16. Management
• If untreated, death due to LVF, Dissection of aorta or cerebral haemorrhage.
• Surgical correction is adviced (except in mildest cases)
• Early management helps avoid the risk of persistence of HTN
• Late management (in late childhood/ adult life)  patient remains hypertensive OR
develops recurrent HTN  preferred mgmt.: Balloon dialation
• In cases with bicuspid Aortic Valve, aortic stenosis or regurgitation may occur and it requires
lifelong follow up.

17. ASD (ATRIAL SEPTAL DEFECT)

18. Etiology
• M:F = 1:2
• Mostly ‘ostium secondum’ defects  PFO
• Sometimes ‘ostium primum’ defects  AV septum (a/w cleft mitral valve/ split
anterior leaflet)
• Blood in LA  RA  LV pulmonary artery  pulmonary hypertension

19. Clinical features
• Mostly asymptomatic
• Detected at routine clinical examination or after Chest Xray.
S/s
• Dyspnea, chest infections, cardiac failure, arrhythmia (esp. in AF)
Physical s/s are due to volume overload in RV
• wide fixed splitting of 2nd
heart sound
• systolic murmur over pulmonary valve
• in cases with large shunt  diastolic flow murmur over tricuspid valve

20. INVESTIGATIONS
• CXR
• enlargement of heart and pulmonary artery (& pulmonary plethora)
• ECG:
• incomplete RBBB (due to ventricular dialation)
• Left axis deviation seen in defect of ostium primum
• ECHO
• directly demonstrates RV dialation/ Hypertrophy and pulmonary artery dialation
• Transoesophageal ECHO
• precise size and location of defect.

21. Management
• ASD with a pulmonary flow increased over 50% of the systemic flow (1.5:1) is
considered large enough to be clinically recognized
o Closed surgically or using cardiac catheterization
o Has an excellent long term prognosis (unless pulmonary hypertension has developed)
• Contraindications of surgery:
o Severe pulmonary hypertention
o Shunt reversal

22. Ventricular Septal Defect

23. Etiology
• Most common Congenital Heart Deformity (1:500 live births)
• May be isolated or part of a complex deformity.
• Result of incomplete septation of the ventricles
• Mostly ‘perimembranous’ (at the junction of membranous and vascular portions.
• Acquired variety maybe due to rupture, as a complication of acute MI or from trauma.

24. Clinical features
Presentation:
• cardiac failure in infants
• murmur with only minor haemodynamic disturbance in older children and adults
• rarely  Eisenmenger’s syndrome
Flow from high pressure LV to low pressure RV  pansystolic murmur (heard best at left
sternal angle)
•Small defect produces a loud murmur (maladie de Roger) and large defect produces a soft
murmur (in absence of other disturbances)
•CXR  pulmonary plethora
•ECG  bilateral ventricular hypertrophy

25. Management
• Small VSD  no treatment needed
• Cardiac failure in infancy  Initially treated medically with digoxin and diuretics
• Persisting failure needs surgical repair (percutaneous closure methods are under
development)
• Doppler ECHO  helps predict small defects (might close spontaneously)
• Eisenmenger’s Syndrome is avoided by monitoring (ECG and ECHO) for signs of
increased pulmonary resistance
• Surgical correction of VSD is avoided in fully developed Eisenmenger’s syndrome since
heart-lung transplant is needed.

26. Tetralogy of Fallot

27. Etiology
• Abnormal development of the bulbar septum
• 1:2000 births
• Most common cause of cyanosis in infancy and after 1st
yr of life.
• RV outflow obstruction.
• VSD is large and similar in aperture to the aortic orifice.
• Elevated right ventricular pressure
• Right to left shunting of cyanotic blood

28. Clinical features
• Neonates are acyanotic.
• Cyanosis (sudden, following feeding/ crying leading to apnoea/ unconsciousness k/a
Fallot’s spells)
• Stunting of growth
• Digital clubbing
• Polycyathemia
• Fallot’s sign : relief by squatting after exertion  increased afterload of the LV and
reducing the Right to Left shunting
• Cyanosis + loud ejection systolic murmur in pulmonary area
• Cyanosis may be absent in newborn/ in patient with mild RV outflow obstruction.

29. INVESTIGATIONS
• ECG
• RVH
• CXR
• abnormally small pulmonary artery and ‘boot shaped’ heart
• ECHO
• diagonistic and demonstrates that the aorta is not continuous with anterial
ventricular septum.

30. Management
• Total correction by surgical relief of pulmonary stenosis and closure of
VSD
• Primary surgery may be prior to 5 yrs of age.
• If pulmonary artery is too hypoplastic, palliative treatment (Blalock-
Taussig shunt)
• Surgery: anastomosis of pulmonary artery and subclavian artery
• Prognosis after total correction is good (esp if don’t in early childhood)

31. Other Causes
• ECHO
• Definitive dagonistic procedure
• Supplemented if necessary by cardiac ctheterisation

33. Adult Congenital Cardiac Diseases
• Complications of surgical corrections of congenital cardiac deformities at
childhood.
• Coarctation of aorta  surgical correction  HTN
• Transposition of great arteries  ‘Mustard’ repair (blood redirected at atrial level
with RV connected to the aorta)  RV Failure
• Surgery of atrium/ ventricle  atrial/ ventricular arrhythmia (managed by ICD
implantation)
• All such cases need lifelong regular and routine follow up.

34. Thank You
• Have a good day.
• Go home and revise the chapter taught.
• Teach to those who are absent.
• Sleep at night with a satisfied smile. 