This document provides information on various congenital heart diseases. It discusses the signs, symptoms and treatments for conditions such as atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), tetralogy of Fallot (TOF), pulmonary stenosis, coarctation of the aorta and Eisenmenger's syndrome. Some key points include that ASD, VSD and PDA cause left-to-right shunts which can lead to heart failure if untreated. TOF is the most common cyanotic heart defect and causes right-to-left shunting. Symptoms of cyanotic conditions include clubbing and central cyanosis. Surgical correction
2. INTRODUCTION
• 7-10 per 1000 births.
• Principal cause of heart disease.
• Early detection by fetal USG.
• Most commonly seen in trisomy 21 ; others being
trisomy 13, 18 and in turner’s syndrome.
• VSD – majority of all acyanotic heart defects
• TOF – majority of all cyanotic heart defects.
3. SIGNS AND SYMPTOMS
• INFANTS :
– Tachypnea.
– Failure to gain weight.
– HR > 200 bpm.
– Heart murmur.
– CHF.
– Cyanosis.
11. ACYANOTIC HEART DISEASES
• L-R intracardiac shunts – increased pulmonary
blood flow – PAH – LVH – CCF.
• Earlier the correction – less likelihood of
pulmonary hypertension
12. ASD
• 1/3 of the congenital heart
disease detected in adults –
increased incidence in
females.
• 3 types – ostium primum ASD,
secundum ASD & coronary
sinus ASD.
• Secundum ASD – 75% of all
the ASD cases.
• Other associated cardiac
anomalies are :
– MVP – secundum ASD
– MR – primum ASD
13. ASD
• Direction and magnitude of shunt depends on the
size of defect & compliance of ventricle.
• Small shunt (<0.5 cm) – no hemodynamic sequelae.
• Approaches 2cm – L-R shunt – increased pulmonary
blood flow.
• ESM in 2nd left ICS.
• Wide split S2 (delayed closure of pulmonary valve
d/t increased flow across the valve)
• Murmur detected usually by 6-8 wks.
14. ASD
• ECG –Right axis deviation & incomplete RBBB.
• AF, SVT can also accompany
• CXR – prominent pulmonary vasculature, mild to
moderate cardiomegaly
15. SIGNS AND SYMPTOMS
• May remain undetected for years.
• Dyspnea on exertion
• SVT
• RHF
• Recurrent pulmonary infections
• Paradoxical embolism
• Congestion of abdominal viscera due to increased right
sided pressure and circulatory volumes.
• IE prophylaxis not required unless concomitant valvular
abnormality is present.
16. VSD
• Most common congenital cardiac
anomaly in infants and children.
• Accounts for most common
congenital cardiac anomaly in
adults excluding a bicuspid aortic
valve.
• Many of them spontaneously
resolve by 2yrs of age.
• 70% - lesion in membranous part
of IV septum, 20% - in the
muscular part, 5% - just below
aortic valve (Aortic Regurgitation),
5% - near the junction of mitral
and tricuspid valve (AV canal
17. VSD
• Echocardiography with doppler confirms the
location and the flow.
• Cardiac catheterisation and angiography can
determine the magnitude of the intracardiac
shunt and the pulmonary vascular resistance
18. SIGNS AND SYMPTOMS
• Depends on the size of the shunt and magnitude of
flow. Small defects – asymptomatic.
• Initially L-R shunt due to SVR>PVR – later the ratio
may reverse – R-L shunt and cyanosis.
• Holosystolic murmur – loudest at the lower left
sternal border.
• Large VSD – ECG shows features of LA and LV
enlargement.
• When PAH develops – QRS axis shifts to right and RA
and RV enlargement on ECG.
19. SIGNS AND SYMPTOMS
• Small defects and normal PVR – asymptomatic,
PAH unlikely to develop - but high risk of IE.
• Large VSD – can lead to LVF or PAH and
associated with RVF.
• PVR/SVR >0.7 – surgical correction not possible.
20. PDA
• Occurs when ductus arteriosus
(arises distal to left subclavian –
connects descending aorta to left
pulmonary artery) fails to close
spontaneously after birth (24-48
hrs after birth) – usually seen with
preterm infants.
• Ductus arteriosus in fetus – helps
pulmonary artertial blood to
bypass deflated lungs to reach
descending aorta and then to
placenta for oxygenation.
21. PDA
• Failure to close – continuous flow of blood from
aorta to pulmonary artery.
• Flow depends on SVR, PVR, diameter and the
length of ductus arteriosus.
• PDA – usually visualised on echocardiography
and doppler helps to assess the flow.
• Cardiac catheterisation – used to assess the
PVR.
22. SIGNS AND SYMPTOMS
• Usually asymptomatic with modest L-R shunt.
• Examination may show a cardiac defect – at
which time the characteristic continuous systolic
and diastolic murmur is heard in the left
infraclavicular or left upper sternal border.
• Large L-R shunt – evidence of LVH on ECG and
CXR.
• If PAH – RVH is apparent.
23. SIGNS AND SYMPTOMS
• Untreated PDA – LVH, CCF and PAH –
eisenmenger’s syndrome with shunt reversal,
poor physical growth, infective endocarditis,
aneurysmal dilatation of the ductus and ductal
calcification.
• Without surgical ligation – patients may remain
asymptomatic untill adolesence - when PAH and
CCF develops – CI to surgical closure.
24. TREATMENT
• 70% of infants delivered before 28 wks require
medical or surgical closure.
• Complications of surgical closure – IC bleed,
infections, recurrent laryngeal nerve paralysis.
• Medical closure by COX-1 or COX-2 inhibitors –
esp indomethacin (non selective COX inhibitor).
• ADR- include decreased mesenteric, renal and
cerebral blood flow.
• Ibuprofen – less adverse effects on blood flow.
25. AORTICO-PULMONARY
FENESTRATION
• Characterised by – communication between left side
of ascending aorta and right wall of main pulmonary
artery, just anterior to the origin of right pulmonary
artery.
• Due to failure of fusion of aorticopulmonary septum
to fuse and completely separate the aorta from the
pulmonary artery.
• Clinical and hemodynamic manifestations – similar
to large PDA.
• Treatment is surgical – requires cardiopulmonary
bypass.
26. AORTIC STENOSIS
• Usually occur with other existing CVS anomalies.
• The biscuspid valve is not usually stenotic at
birth – progressive thickening and calcification –
apparent by 15yrs of age.
• Transthoracic echo and doppler – assessment of
severity of stenosis and LV function.
• Cardiac catheterisation – to r/o concomitant
coronary artery disease.
27. SIGNS AND SYMPTOMS
• Systolic murmur – 2nd right ICS (aortic area).
• Asymptomatic until adulthood.
• Infants with severe AS – CCF.
• Supravalvular AS –
– prominent facial bones
– round forehead
– pursed upper lip
– associated peripheral pulmonary artery stenosis in
conjunction with Williams-Beuren syndrome (distinctive
personality and behavioral traits, elfin facies, transient
neonatal hypercalcemia).
– Strabismus, inguinal hernia, dental anomalies, moderate
mental retardation.
28. SIGNS AND SYMPTOMS
• Myocardial ischemia and sudden death in
conjunction with sedation or anaesthesia – in
congenital SVAS.
• ECG – LVH, ST depression with exercise (if pr gradient
>50mm Hg).
• CXR – LVH ± post stenotic dilataion of aorta.
• Angina and syncope.
• High velocity of blood through stenotic area – IE and
post stenotic dilatataion of aorta.
• Valve replacement indicated in symptomatic AS.
29. PULMONIC STENOSIS
• Produces obstruction to RV outflow in 90% cases –
rest being supra/subvalvular.
• Supravalvular PS – often coexists with other
congenital cardiac anomalies (ASD, VSD, PDA, TOF)
and William’s syndrome (infantile hypercalcemia and
mental retardation).
• Subvalvular PS – usually in conjunction with VSD.
• Valvular PS – typically isolated lesion, but can occur
with VSD
30. PULMONIC STENOSIS
• Severe PS – transvalvular pressure >80mm Hg or
RV systolic pressure >100 mm Hg.
• Echo and doppler to asses the flow and severity.
• Treatment by percutaneous balloon
valvuloplasty.
31. SIGNS AND SYMPTOMS
• Loud ESM best heard in the 2nd Left ICS –
intensity and duration depends on the severity.
• Dyspnea on exertion progressing to RVF with
peripheral edema and ascites.
• If patent foramen ovale – R-L shunt – cyanosis
and clubbing.
32. COARCTATION OF AORTA
• Typically consists of a diaphragm like ridge extending
into the lumen and is described by its relationship to
the ductus arteriosus (pre/juxta/post ductal).
• Postductal – extends just distal to the left subclavian
artery at the site of aortic ductal attachment
(ligamentum arteriosum) – manifests in young
adults).
• Preductal – less common – coarctation is just
proximal to the left subclavian artery.
• More common in males – occurs specifically in
turner’s syndrome, aneurysm of circle of willis.
33. SIGNS AND SYMPTOMS
• Systemic hypertension in arms in association
with diminished or absent femoral arterial
pulses.
• SBP more in arms, DBP almost similar – wide
pulse pressure in arms (no difference in
preductal coarctation)
• Harsh ESM – along the left sternal border and
back.
34. SIGNS AND SYMPTOMS
• ECG – LVH
• CXR – notching of ribs – due to collaterals, LVH,
reversed E or 3 sign.
• Echo and doppler to assess the transcoarctation
pressure gradient.
• Symptoms include – dizziness, headache,
epistaxis and palpitation, claudication.
• Women with coarctation – increased risk of
dissection during pregnancy.
35. SIGNS AND SYMPTOMS
• Complications include – systemic HTN, LVF,
aortic dissection, premature IHD, IE, CVA (d/t
rupture of cerebral aneurysms).
• Require IE prophylaxis.
• Treatment by – surgical resection (pr gradient
>30 mm Hg)
37. CYANOTIC HEART DISEASES
• R-L intracardiac shunt
• Arterial hypoxemia – secondary erythrocytosis –
increased risk of thromboembolism (esp when
hct >70%), coagulation disorders (def of vit K
dependent coagulation factors and defective
platelet aggregation.
• Increased risk of cerebral abscess – mimics
stroke
38. CYANOTIC HEART DISEASES
• Usually described with 5 Ts:
– TOF
– TGA
– Tricuspid atresia
– TAPVC
– Truncus arteriosus
39. TOF
• Most common congenital
cyanotic heart disease.
• Characterised by single large
VSD, overriding of aorta,
obstruction to RV outflow
(subvavular, valvular,
supravalvular, pulmonary
arterial branches) and RVH.
• Other coexisting anomalies –
right aortic arch, ASD
(pentology of fallot) and
coronary arterial anomalies.
40. TOF
• R-L shunting occurs due to increased resistance
to RV outflow – severity of which determines the
magnitude of shunt – resistance relatively fixed
– changes in SVR can affect the shunt.
• Decrease in SVR – increases the shunt –
increased arterial hypoxemia.
• Diagnosis by echocardiography and doppler.
41. SIGNS AND SYMPTOMS
• Typically the neonate is pink – develops
cyanosis between 2nd and 6th month of age.
• ESM – along the left sternal border – murmur
becomes shorter and less intense with increasing
severity – disappears or becomes soft in a
hypercyanotic spell.
• Holosystolic murmur of VSD – in some cases.
• CCF rarely develops – VSD equlibrates the
intraventricular pressure and the cardiac
workload.
42. SIGNS AND SYMPTOMS
• CXR – decreased lung vascularity, boot shaped
heart with upturned right ventricular apex and a
concave main pulmonary arterial segment.
• ECG – right axis deviation and RVH.
• Central cyanosis usually present.
• Squatting – commonly seen in these children –
increases SVR – increases the L-R shunt –
increasing pulmonary blood flow – improving
arterial oxygenation.
43. HYPERCYANOTIC ATTACKS
• Sudden spells of arterial hypoxemia with
worsening of cyanosis, increased rate and depth
of respiration, and in some cases – LOC,
seizures, CVA and even death.
• Usually associated with crying, defecation,
feeding or exercise.
• Peak incidence between 2-3 months.
• Mechanism – not clearly known – but suggested
to be spasm of infundibular cardiac muscle or
decreasd SVR.
44. TREATMENT
• Depends on the cause.
• Knee chest position.
• Spasm of the infundibular cardiac muscle – β2
adrenergic antagonists like esmolo, propranolol.
• If due to decreased SVR – IV fluids and/or
phenylephrine.
• Recurrent attacks – long course of oral propranolol
and surgical correction.
• donot occur with adolescents and adults –
decreased exercise tolerance and cyanosis may b the
symptoms.
45. OTHER COMPLICATIONS
• CVA – common in children with severe TOF –
due to thrombosis (aggravated by dehydration
and polycythemia) or hypoxemia.
• CEREBRAL ABSCESS – abrupt onset of
headache, fever, lethargy, persistent vomiting
and seizures.
• IE – high mortality rate.
46. EISSENMENGER’S SYNDROME
• Increased PVR – reversal of L-R shunt to a level
that equals or exceeds the SVR.
• Shunt reversal occurs in approx 50% of
untreated VSD and approx 10% in untreated
ASD.
• Progressive narrowing of pulmonary vasculature
due to increased blood flow and pressure.
• Murmur due to the underlying cardiac defect
disappears when this develops.
47. SIGNS AND SYMPTOMS
• Cyanosis and decreased exercise tolerance.
• Palpitations due to Afib or Afl.
• Hyperviscosity – visual disturbances, headache,
dizziness and parasthesias.
• Hemoptysis – due to pulmonary infarction or
dilataion of pulmonary arteries, arterioles or
collateral vessels.
• Sudden death can occur.
• ECG - RVH
48. EBSTEIN’S ANOMALY
• Posterior and septal leafelets of tricuspid valve
are malformed or displaced downwards into the
RV.
• The valve is usually regurgitant but can be
stenotic also.
• There is usually an interatrial connection through
which there is R-L shunting of blood and
associated pulmonary atresia or VSD.
• Very rare
49. SIGNS AND SYMPTOMS
• Can vary from being asymptomatic to CCF.
• Neonates may manifest with cyanosis and CCF
that worsens after ductus arteriosus closes –
donot survive without surgical intervention.
• Those with interatrial connections are at risk of
paradoxical embolism, brain abscess, CCF and
sudden death.
• In older children this may be an incidental
finding.
50. SIGNS AND SYMPTOMS
• Systolic murmur due to TR may be present.
• Hepatomegaly due to increased RS pressures.
• ECG- tall and broad P waves and first degree AV
block.
• PSVT may b seen and they are also likely to have
accessory conduction pathways.
• PIH in these patients can cause CCF.
51. TRICUSPID ATRESIA
• Defined as congenital absence or agenesis of
morphologic tricuspid valve – arterial hypoxemia,
small RV, large LV, markedly reduced pulmonary
flow.
– Type 1 – normally related great arteries.
– Type 2 – dextro transposition of great arteries.
– Type 3 – transposition other than dextro
transposition
– Type 4 – truncus arteriosus.
52. TRICUSPID ATRESIA
• They usually have an underlying ASD or VSD and
outflow obstruction.
• Hence there can be one or more subgroups :
• Cases with pulmonary atresia
• Cases with pulmonary stenosis or hypoplasia
• Cases with normal pulmonary arteries and no
stenosis.
53. SIGNS AND SYMPTOMS
• 50% develop symptoms on the first day.
• Children with reduced pulmonary flow – central
cyanosis, clubbing, tachypnea, normal pulses,
prominent a wave in JVP.
• Holosystolic murmur of VSD or a continuous
murmur of PDA.
• Difficulty in feeding, failure to thrive, diaphoresis
and recurrent respiratory infections may be
seen.
54. SIGNS AND SYMPTOMS
• ECG – RA enlargement, left axis deviation and
LVH.
• Echo and doppler to assess the severity
55. TGA
• Results from failure of
truncus arteriosus to
spiral so that aorta
arises from the anterior
portion of RV and
pulmonary arteries from
LV.
• Survival is possible only
when there is
communication between
the circulations in the
form of ASD, VSD or
PDA.
56. SIGNS AND SYMPTOMS
• TGA with intact IV septum – cyanosis in 1st week,
non specific systolic murmur may be heard.
• TGA with VSD – signs of CCF (tachypnea,
tachycardia, sweating and poor feeding) within
4-8 wks with relatively minimal cyanosis, with a
high grade holosystolic rumbling murmur.
• TGA with VSD and pulmonary stenosis –
depends on the severity of stenosis.
57. SIGNS AND SYMPTOMS
• ECG – right axis deviation and RVH.
• CXR – egg shaped cardiac silhouette with a
narrow stalk.
• Echo – useful in assessment of severity.
58. TRUNCUS ARTERIOSUS
• Presence of a single arterial
trunk which serves as origin for
both aorta and pulmonary
artery.
• Associated with very high
mortality.
• There is L-R shunting and
pulmonary circulatory overload.
• Cyanosis, arterial hypoxemia,
failure to thrive and CCF,
accentuated peripheral pulses
(d/t diastolic run off f blood
59. PARTIAL ANOMALOUS PULMONARY
VENOUS RETURN
• Presence of left or right pulmonary veins that
empty into the right circulation (not left atrium),
and in some cases into the SVC – L-R shunting
at the atrial level, RV and RA dilatation.
• Symptoms depend on the shunt. Fatigue and
exertional dyspnea in early adulthood.
• Cyanosis and CCF – if >50% of pulmonary
venous flow entering the right circulation.
• Angiography is the most useful diagnostic
modality
60. TOTAL ANOMALOUS PULMONARY
VENOUS RETURN
• Drainage of all 4 pulmonary veins into the systemic
venous system.
• Supracardiac type –most common – all 4 pulmonary
veins drain into the left innominate vein in
association with left SVC.
• Oxygenated blood reaches atria via an ASD, PDA
present in approx 1/3 of the patient.
• Intracardiac TAPVC – when pulmonary veins return
and enter a common confluence and then empties to
coronary sinus – all the venous return (coronary,
pulmonary, systemic) drain into the right atrium – left
atrium.
61. TOTAL ANOMALOUS PULMONARY
VENOUS RETURN
• Infracardiac TAPVC – pulmonary venous
confluence drains inferiorly to the ductus
venosus – IVC and connects to portal vein
system – right atrium receives mixed systemic
and pulmonary venous blood - left atrium via
ASD.
62. SIGNS AND SYMPTOMS
• Presents as CCF in 50% by one month of age
and in 90% by one year.
• Severly cyanotic, respiratory distress, tachypnea,
grunting and retractions of rib cage muscles – in
obstructed flow.
• Unobstructed flow – asymptomatic with mild
cyanosis.
• Murmur of ASD may be present
63. SIGNS AND SYMPTOMS
• ECG – RA and RV enlargement.
• CXR – cardiomegaly and pulmonary edema.
• Angiography – definitive diagnosis.
• Mortality is approx 80% by 1 yr of age unless
TAPVC is surgically corrected.
64. HYPOPLASTIC LEFT HEART
SYNDROME
• LV hypoplasia, mitral valve hypoplasia, aortic
valve atresia and hypoplasia of ascending aorta.
• Not usually accompanied by extra cardiac
congenital anomalies.
• Complete mixing of pulmonary and systemic
venous blood in a single ventricle – connected in
parallel with both pulmonary and systemic
circulations.
• Systemic flow is dependent on PDA.
65. HYPOPLASTIC LEFT HEART
SYNDROME
• Abrupt decrease in PVR results in increased
pulmonary blood flow at the expense of systemic
blood flow (pulmonary steel) – inadequate
coronary and systemic blood flow – metabolic
acidosis, high output cardiac failure, VF.
• Increased PVR – decreases pulmonary blood
flow – worsening arterial hypoxemia – metabolic
acidosis and circulatory collapse.
66. SIGNS AND SYMPTOMS
• CVS collapse and shock at birth – initial
presentation.
• Weak peripheral pulsations, without major difference
between femoral and brachial pulses.
• Mild to moderate cyanosis, but no differential
cyanosis.
• CXR – cardiomegaly and plethoric lung fields.
• ECG – RVH and reduced RV forces.
• Suspected cases – PG infusion – maintain patency of
ductus – prevents further cardiovascular collapse,
acidosis and death.
67.
68. SHUNTS
• Classified into :
– Simple shunts (no obstructive lesions)
– Complex shunts (shunt and obstructive lesion)
69. SIMPLE SHUNTS
RESTRICTIVE SHUNTS
(SMALL
COMMUNICATIONS)
NON RESTRICTIVE
SHUNTS
(LARGE
COMMUNICATIONS)
COMMON CHAMBERS
(COMPLETE MIXING)
Large pressure gradient Small pressure gradient No pressure gradient
Direction and magnitude
more independent of
PVR/SVR
Direction and magnitude
more dependent on
PVR/SVR
Bidirectional shunting
Less subject to control More subject to control Net pulmonary/systemic
blood flow depends on
PVR/SVR
Eg: small VSD, amll PDA,
blalock shunts,
Small ASD
Eg: large VSD, large PDA,
large aortopulmonary
shunts
Eg: single
ventricle,truncus
arteriosus, singkle atrium
70. COMPLEX SHUNTS
PARTIAL OUTFLOW OBSTRUCTION TOTAL OUTFLOW OBSTRUCTION
Shunt magnitude and direction largely
fixed by obstructions
Shunt magnitude and direction totally
fixed
Shunts depends less on PVR/SVR All flow go through the shunt
Orifice and obstruction determine
pressure gradient
Pressure gradient depends on orifice
Eg: TOF, VSD with pulmonic stenosis,
VSD with coarctation
Eg: tricuspid atresia, mitral atresia,
aortic atresia.
