Embryology of heart, Anatomy of heart, Physiology of heart, Fetal circulation, Neonatal circulation, Congenital cyanotic and acyanotic heart diseases of children.

2. Lecture-10
Prof. Dr. Sunil Natha Mhaske
Dean
Dr. Vithalrao Vikhe Patil Foundation’s Medical College and Hospital,
Ahmednagar (M.S.) India-414111
Mo- 7588024773
Mail-sunilmhaske1970@gmail.com
Congenital Heart Diseases

3. • In human embryos the heart begins to beat at about 22-23 days, with
blood flow beginning in the 4th week.
• The heart is therefore one of the earliest differentiating and functioning
organs.
• The heart begins very early in mesoderm within the trilaminar
embryonic disc.
• The heart forms initially in the embryonic disc as a simple paired tube
inside the forming pericardial cavity, which when the disc folds, gets
carried into the correct anatomical position in the chest cavity.
• The development of the heart begins with the formation of
the primitive heart tube following the folding of the embryo during
the end of the third week.
• Lateral folding creates the heart tube by bringing together two
precursor regions, then cephalocaudal folding positions the heart tube
in the future thorax. Initially, the heart tube is suspended within the
pericardial cavity by a membrane; this subsequently degenerates to
allow for further growth.
Embryology of Heart

4. From superior to inferior, the primitive heart tube is comprised of six
regions:
 Aortic roots (Arterial poles)
 Truncus arteriosus
 Bulbus cordis
 Ventricle
 Atrium
 Sinus venosus (Venous poles)

5. • At the fourth week, the sinus venosus is responsible for the inflow
of blood to the primitive heart, and empties into the primitive atrium.
• It receives venous blood from the right and left sinus horns.
• Over time, the venous return shifts to the right side of the heart,
causing the left sinus horn to recede and form the coronary sinus
(responsible for the drainage of venous blood from the heart itself).
• The enlarged right sinus horn is absorbed by the growing right
atrium and eventually forms part of the inferior vena cava in the
adult.
• In the left atrium, a similar process occurs with the pulmonary
veins.
• The four pulmonary veins are incorporated into the left atrium,
forming the smooth inflow portion of the left atrium and the oblique
pericardial sinus.
Atria

6. Aortic Arches
The early arterial system begins as a bilaterally symmetrical system of arched
vessels, which then undergo extensive remodeling to create the major arteries that
exit the heart.
1st arch Contributes to the maxillary, hyoid and stapedial arteries.
2nd arch Contributes to the maxillary, hyoid and stapedial arteries.
3rd arch Forms the common carotid artery and part of the proximal internal
carotid artery.
4th arch Right arch forms the right subclavian artery
Left arch forms part of the arch of the aorta
5th arch Either never forms, or forms incompletely and regresses
6th arch Right arch forms the right pulmonary artery
Left arch forms the left pulmonary artery and the ductus arteriosus.

7. Septation of the Heart
Atrial-
• The septation of the primitive atrium involves the formation of two septa and
three ‘holes’.
• Firstly, the septum primum forms and extends down towards the
fused endocardial cushions to split the atrium into two.
• The ostium primum is a hole present before the septum primum completes
fusion with endocardial cushions
• Before the ostrium primum is closed a second hole, the ostium secundum, appears
within the septum primum.
• Following this a second septum, the septum secundum, grows with a hole known
as the foramen ovale present.
• The presence of both the ostium secundum and foramen ovale allows
a right to left shunt to be present in the developing heart.
• This allows blood to be shunted to the left side of the heart, bypassing the non-
functional lungs.

8. Ventricular-
• The interventricular septum of the ventricles has two components; one
muscular and one membranous.
• The muscular portion forms much of the septum and grows up from the floor
of the ventricles towards the fused endocardial cushions, but a small gap,
the primary interventricular foramen, remains.
• This gap is filled by the membranous portion of the
interventricular septum, which is comprised of connective tissue derived from
endocardial cushions.

10. • The heart is a muscular organ that pumps blood around
the body by circulating it through the circulatory/vascular
system.
• It is wrapped in a two-layered serous sac called
the pericardium.
• The heart is shaped as a quadrangular pyramid, and its
apex is pointed toward the anterior thoracic wall.
• heart has four chambers:
1. The right atrium receives blood from the veins and
pumps it to the right ventricle.
2. The right ventricle receives blood from the right atrium
and pumps it to the lungs, where it is loaded with
oxygen.
3. The left atrium receives oxygenated blood from the lungs
and pumps it to the left ventricle.
4. The left ventricle (the strongest chamber) pumps oxygen-
rich blood to the rest of the body. The left ventricle’s
vigorous contractions create our blood pressure.
Anatomy of Heart

11. Right and left sides of the heart
• The right hand side of the heart
pumps blood needing oxygen to the
lungs.
• This blood goes to the lungs where it
is loaded up with oxygen and sent
back to the heart.
• The oxygen-rich blood enters the left
side of the heart which then pumps it
around the body to where it is needed.
• Blood which has delivered its oxygen
to the muscles and tissues then
returns back to the right-hand side of
the heart to start the cycle again.

12. Superior and inferior vena cavae- These are the 2 large veins which enter the heart on the right
hand side and bring blood low in oxygen into the right atrium. The superior vena cava brings in
blood from the head and arms and upper body; the inferior vena cava brings in blood from the
trunk and legs- the lower body.
Pulmonary arteries- right and left pulmonary arteries branch off the main pulmonary trunk.
Blood that needs oxygen is pumped into them from the right ventricle and they take it to the
lungs for oxygenation.
Pulmonary veins-The right and left pulmonary veins bring the oxygen-rich blood back from the
lungs to the heart into the left atrium.
Aorta-The aorta is the largest artery in the body. Blood full of oxygen is pumped by the left
ventricle into the aorta, round the aortic arch and out into the upper body via the 3 main arteries
branching off the aortic arch and into the thorax, trunk and lower body via the descending aorta.
Valves- The right atrium and right ventricle are separated by the tricuspid valve. The tricuspid
valve lets blood pump from the right atrium into the right ventricle but prevents its flow back
again. Similarly, the mitral valve opens from the left atrium into the left ventricle. The pulmonary
valve and aortic valve are at the outlets of the right and left ventricles, respectively.
Coronary arteries-The right and left coronary arteries branch off the aorta — the large main
blood vessel which leaves the heart with oxygen-rich blood — so they are ensured of a good

13. Fetal Circulation-
During pregnancy, the fetal circulatory system works differently than after birth:
 The fetus is connected by the umbilical cord to the placenta.
 Through the blood vessels in the umbilical cord, the fetus gets all needed
nutrition and oxygen.
 The fetal circulatory system uses 3 shunts.
 The purpose of these shunts is to bypass the lungs and liver.
 The shunt that bypasses the lungs is called the foramen ovale. This shunt moves
blood from the right atrium of the heart to the left atrium.
 The ductus arteriosus moves blood from the pulmonary artery to the aorta.
 Oxygen and nutrients from the mother's blood are sent across the placenta to the
fetus.
 The enriched blood flows through the umbilical cord to the liver and splits into
3 branches.
 The blood then reaches the inferior vena cava.
 This is a major vein connected to the heart.
 Most of this blood is sent through the ductus venosus.
 This is also a shunt that lets highly oxygenated blood bypass the liver to the
inferior vena cava and then to the right atrium of the heart.
 A small amount of this blood goes straight to the liver to give it the oxygen and
nutrients it needs.

14. Inside the fetal heart-
 Blood enters the right atrium, most of it flows through the foramen ovale
into the left atrium.
 Blood then passes into the left ventricle.
 Blood then passes to the aorta.
 From the aorta, blood is sent to the heart muscle itself and to the brain and
arms.
 After circulating there, the blood returns to the right atrium of the heart
through the superior vena cava.
 This less oxygenated blood is pumped from the right ventricle into the
pulmonary artery.
 Most of this blood is shunted through the ductus arteriosus to the
descending aorta.
 This blood then enters the umbilical arteries and flows into the placenta.

16. Blood circulation after birth
• The closure of the Ductus Arteriosus, Ductus Venosus, and Foramen Ovale
completes the change of fetal circulation to newborn circulation.

17. At birth-
 the umbilical cord is clamped.
 baby no longer gets oxygen and nutrients from the mother.
 With the first breaths of life, the lungs start to expand.
 As the lungs expand, the alveoli in the lungs are cleared of fluid.
 An increase in the baby's blood pressure and a major reduction in the
pulmonary pressures reduce the need for the ductus arteriosus to shunt
blood.
 These changes help the shunt close.
 These changes raise the pressure in the left atrium of the heart.
 They also lower the pressure in the right atrium.
 The shift in pressure stimulates the foramen ovale to close.

20. Fetal shunt Adult remnant
Foramen ovale Fossa ovalis
Ductus arteriosus Ligamentum arteriosum
Ductus venosus Ligamentum venosum
Umbilical vein Ligamentum teres (hepatis)

21. Congenital Heart Diseases

22. NADAS’ Criteria
MAJOR-
1. Systolic murmur with
thrill
2. Any diastolic murmur
3. Cyanosis
4. Congestive cardiac failure
MINOR-
1. Systolic murmur without
thrill
2. Abnormal P2
3. Abnormal BP
4. Abnormal CXR
5. Abnormal ECG
1 Major or 2 Minor Criteria indicates Presence of
Congenital Heart Disease

23. Acyanotic Congenital Heart Diseases
A. Left to right shunts-
1. Ventricular Septal Defects (VSD)
2. Atrial Septal Defects (ASD)
3. Patent Ductus Arteriosus (PDA)
B. Obstructive Lesions-
1. Pulmonary Valvular Stenosis (PS)
2. Aortic Stenosis (AS)
3. Coarctation of Aorta (COA)

24. Atrial Septal Defect (ASD)
• a congenital heart defect in which blood flows between the atria of
the heart.
• 5% to 10%
• M:F::1:2
• 30-50% of children have ASD as part of cardiac defects.
Causes-
 Down syndrome
 Ebstein's anomaly
 Fetal alcohol syndrome
 Holt–Oram syndrome
 Lutembacher's syndrome
(congenital ASD along with acquired
mitral stenosis)

25. Types -
1. Ostium secundum
• most common type of atrial septal defect
• comprises 6–10% of all congenital heart diseases.
• usually arises from an enlarged foramen ovale, inadequate growth of
the septum secundum, or excessive absorption of the septum primum.
• 10 to 20% of individuals have mitral valve prolapse
• ostium secundum ASD accompanied by an acquired mitral valve
stenosis is called Lutembacher's syndrome.
• secundum ASD do not have significant symptoms through early
adulthood.
• Symptoms are decreased exercise tolerance, easy fatigability, palpitations,
and syncope.
• Complications- pulmonary hypertension, right-sided heart failure, atrial
fibrillation or flutter, stroke, and Eisenmenger's syndrome.

26. 2. Patent foramen ovale-
- is a remnant opening of the fetal foramen ovale, which normally
closes after a person's birth. In about 25% of people, the foramen
ovale fails to close properly, leaving them with a PFO
- classify as a "pro-PFO"- means PFO that is normally closed, but
can open under increased blood pressure.
- PFO is linked to stroke, sleep apnea, migraine with aura,
and decompression sickness.
- No cause is established for a foramen ovale to remain open instead
of closing naturally, but heredity and genetics may play a role.
- PFO is not treated in the absence of other symptoms.
- Treatment with anticoagulant and antiplatelet medications in this
group appear similar.

27. 3. Ostium primum-
- more commonly classified as an atrioventricular septal defect
- Ostium primum defects are less common than ostium secundum
defects
- usually associated with Down syndrome.
4. Sinus venosus-
- defect involves the venous inflow of either the superior vena cava or
the inferior vena cava.
- A sinus venosus ASD that involves the superior vena cava makes up
2 to 3% of all interatrial communication.
- It is located at the junction of the superior vena cava and the right
atrium.
- frequently associated with anomalous drainage of the right-
sided pulmonary veins into the right atrium .

28. 5. Common or single atrium-
- Common (or single) atrium is a failure of development of the
embryologic components that contribute to the atrial septal
complex.
- It is frequently associated with heterotaxy syndrome. (condition in
which the internal organs are abnormally arranged in the chest and
abdomen.)
6. Mixed-
- The interatrial septum can be divided into five septal zones.
- If the defect involves two or more of the septal zones, then the
defect is termed a mixed atrial septal defect.

29. Complications-
- cardiac arrhythmia
- Right-sided heart failure
- Pulmonary hypertension.
- Eisenmenger syndrome
- frequent respiratory infections.
- Decompression sickness-Due to venous blood carrying inert gases,
such as helium or nitrogen does not pass through the lungs
- Eisenmenger's syndrome-. Reversal of the shunt occurs due to
pulmonary hypertension, so blood flows in the opposite direction
through the ASD is called Eisenmenger's syndrome, a rare and late
complication of an ASD.
- Paradoxical embolus
- Migraine

30. Physical examination-
- a systolic ejection murmur - due to the increased flow of blood
through the pulmonic valve
- a fixed splitting of S2 occurs because the extra blood return during
inspiration gets equalized between the left and right atria due to the
communication that exists between the atria in individuals with
ASD.
Electrocardiogram-
- prolonged PR interval (a first-degree heart block).
- primum ASD have a left axis deviation of the QRS complex,
- secundum ASD have a right axis deviation of the QRS complex.
- venosus ASD exhibit a left axis deviation of the P wave.
- presence of incomplete right bundle branch block.

31. • X ray chest-chest X-ray- increase in pulmonary blood flow.
- Cardiomegaly with RA and RV enlargement is visible.
• Echocardiography
- Indirect signs of left to right shunts
- increased RV dimension & paradoxical motion of IVS - signals
of RV volume overload.
Natural History of ASD
• Spontaneous closure 87%.
• ASD <3mm by 18months 100% closure.
• ASD between 3-8mm by 18m. 80%closure.
• ASD > 8mm rarely closes spontaneously.
• If untreated CHF and PAH develops in adults
• SBE prophylaxis is not required unless associated defects present.

32. Ventricular Septal Defect (VSD)
• It is a defect in the ventricular septum, the wall dividing the left
and right ventricles of the heart.
• Most common congenital cardiac anomalies.
• 30-60% of all newborns with a congenital heart defect, or about
2-6 per 1000 births.
Types-
1. Membranous: apical- just under the aortic valve.
2. Muscular: inlet - beneath AV valves
3. Trabecular - central, apical, marginal.
4. Outlet (infundibular) - beneath aortic
valve e.g. TOF.

33. • During ventricular contraction, or systole, some of the
blood from the left ventricle leaks into the right ventricle,
passes through the lungs and reenters the left ventricle via
the pulmonary veins and left atrium.
• This has two net effects.
• First, the circuitous refluxing of blood causes volume
overload on the left ventricle.
• Second, because the left ventricle normally has a much
higher systolic pressure (~120 mm Hg) than the right
ventricle (~20 mm Hg), the leakage of blood into the right
ventricle therefore elevates right ventricular pressure and
volume, causing pulmonary hypertension with its
associated symptoms.

34. Type 1 - sub aortic
Type 2- perimembranous, paramembranous,
conoventricular, membranous septal defect, and subaortic. Most
common variety found in 70%
Type 3- inlet (or AV canal type), Commonly associated
with atrioventricular septal defect, found in about 5%
Type 4- muscular (trabecular)-Located in the muscular septum,
found in 20%. Can be sub classified again based on the location into
anterior, apical, posterior and mid
Type 5 Gerbode- left ventricular to right atrial communication, Due
to absence of Atrioventricular septum.

35. • With small VSD patient is asymptomatic.
• With large VSD- delayed growth and development, repeated
pulmonary infections and CHF.
• With long standing pulmonary hypertension, a history of cyanosis and
a decreased activity.
• Pansystolic (Holosystolic) murmur (depending upon the size of the
defect) +/- palpable thrill (palpable turbulence of blood flow).
• Heart sounds are normal.
• Larger VSDs may cause a parasternal heave and a displaced apex beat
• ECG:
- Small VSD, ECG is normal.
- With moderate VSD, LVH and occasional LAH may be seen.
- Large defect, ECG shows combined ventricular hypertrophy.
X ray: Cardiomegaly (LA, LV increase).
Echocardiography-
- Determine size and site of VSD
- Rule out associated lesions
- Estimate right ventricular and pulmonary arterial pressure

36. Complications-
• Ventricular Septal Aneurysm
• Aortic Regurgitation ( common with outlet defects )
• Surgical closure is indicated in absence of large shunt to reduce
risk of progressive AV dysfunction
• Vegetation on RV side.
 Spontaneous closure in 30 to 40% with membraneous and
muscular VSD in first 6m.
 CHF develops in infants with large VSD not before 4-8 weeks
 With large VSD, for which Surgical closure or pulmonary artery
banding has to be done

37. • Treatment is either conservative or surgical.
• Smaller congenital VSDs often close on their own, as the heart
grows, and in such cases may be treated conservatively.
• most often before the baby is 1 year old, almost always before age
4 (75% by 2 years of age)
• Ventricular septum defect in infants is initially treated medically
with cardiac glycosides (e.g., digoxin 10-20mcg/kg per day), loop
diuretics (e.g., furosemide 1–3 mg/kg per day) and ACE inhibitors
(e.g., captopril 0.5–2 mg/kg per day).
• Even if a small VSD does not close spontaneously, surgical repair
is usually not recommended. However, long-term follow-up is
required.
• Two types of surgery available to correct a VSD: -the intracardiac
technique and the trans-catheter technique.
Treatment

38. A nitinol device for closing muscular VSDs, 4 mm diameter in the
centre. It is shown mounted on the catheter into which it will be
withdrawn during insertion.

39. Patent Ductus Arterious (PDA)
• Ductus arteriosus fails to close after birth
• this allows a portion of oxygenated blood from the left heart to flow
back to the lungs by flowing from the aorta, which has a higher
pressure, to the pulmonary artery.
 Dyspnea
 Continuous "machine-like" heart murmur
 Cardiomegaly
 Left subclavicular thrill
 Bounding pulse
 Widened pulse pressure
 Increased cardiac output
 Increased systolic pressure
 Poor growth
 Differential cyanosis, i.E. Cyanosis of the lower
extremities but not of the upper body.

40. Risk factors
 Preterm birth
 Congenital rubella syndrome
 Chromosomal abnormalities (e.g., Down syndrome)
 Genetic conditions such as Loeys–Dietz syndrome, Wiedemann–
Steiner syndrome, and CHARGE syndrome.
Diagnosis-
• Echocardiography
• Electrocardiography
• Chest X-ray - large PDA generally accompanies an enlarged cardiac
silhouette and increased blood flow to the lungs.
Treatment-
• Indomethacin or ibuprofen
• Surgery
Robert E. Gross, MD performed the first
successful ligation of a patent ductus
arteriosus on a seven-year-old girl
at Children's Hospital Boston in 1938

41. Pulmonary stenosis (PS)
• The pulmonary artery carries blood to the lungs where it is
oxygenated. It then returns the blood to the heart.
• Pulmonary stenosis (PS) is an obstruction of the blood flow from
the right ventricle to the pulmonary artery. It results from a
narrowing (stenosis) at several points on or near the pulmonary
valve.
• PS may be valvular, subvalvular (infundibular) or supravalvular.
• Mild PS children are asymptomatic
• Moderate PS, Dyspnea and easy fatigability.
• Severe PS Heart failure and exertional chest pain.

42. • When pulmonic stenosis (PS) is present, resistance to blood flow
causes right ventricular hypertrophy.
• If right ventricular failure develops, right atrial pressure will
increase, and this may result in a persistent opening of the foramen
ovale, shunting of unoxygenated blood from the right atrium into the
left atrium, and systemic cyanosis.
• If pulmonary stenosis is severe, congestive heart failure occurs, and
systemic venous engorgement will be noted. An associated defect
such as a patent ductus arteriosus partially compensates for the
obstruction by shunting blood from the left ventricle to the aorta then
back to the pulmonary artery (as a result of the higher pressure in the
left ventricle) and back into the lungs.
• Mild PS is not progressive.
• Moderate to severe PS is progressive.
• CHF may develop in severe stenosis
• SBE occasionally occurs
• Sudden death in severe stenosis.
• The treatment of choice is percutaneous balloon valvuloplasty.

43. Congenital Aortic Stenosis (AS)
• Narrowing of the exit of the left ventricle of the heart.
• It may occur at the aortic valve as well as above and below this
level.
• Mild AS asymptomatic.
• Severe AS heart failure in newborns, chest pain , syncope and
sudden death.
• Pressure gradient increases with growth.
• Worsening of AR may occur in subaortic stenosis.
• SBE is 4% in valvar AS.
• mild aortic stenosis rarely require treatment.
• Surgical valvotomy

44. Coarctation of Aorta (COA)
• Congenital condition whereby the aorta is narrow, usually in the
area where the ductus arteriosus (ligamentum arteriosum after
regression) inserts.
• 8- 10 % of all CHD.
• M:F = 2:1.
• 30% of Turners Syndrome.
• 85% of COA have bicuspid valve.
• Poor feeding, dyspnea, poor weight gain and acute circulatory
shock in first 6 weeks .
• 20-30% of COA develop CHF by 3 months

45. Types-
1. Preductal coarctation:
- The narrowing is proximal to the ductus arteriosus.
- Blood flow to the aorta that is distal to the narrowing is dependent on the
ductus arteriosus; therefore severe coarctation can be life-threatening.
- Preductal coarctation results when an intracardiac anomaly during fetal life
decreases blood flow through the left side of the heart, leading to
hypoplastic development of the aorta.
- This is the type seen in approximately 5% of infants with turner syndrome.
2. Ductal coarctation:
- The narrowing occurs at the insertion of the ductus arteriosus.
- This kind usually appears when the ductus arteriosus closes.
3. Postductal coarctation:
- The narrowing is distal to the insertion of the ductus arteriosus.
- Most common in adults.
- Associated with notching of the ribs, hypertension in the upper extremities,
and weak pulses in the lower extremities.

46. Treatment
 For symptomatic neonates, prostaglandin E1 infusion
 For hypertension, beta-blockers
 Surgical correction or balloon angioplasty (stent placement)

47. Cyanotic Congenital Heart Disease
Increased Pulmonary Blood
Flow
Decreased Pulmonary Blood
Flow
Transposition of Great arteries Tetralogy of Fallot
Truncus Arteriosus Tricuspid Atersia
Single Ventricle Ebstein’s Anomaly
TAPVC Pulmonary Atersia

48. Tetralogy of Fallot
• The word Fallot is actually the name of French physician and
cardiologist name is Ettienne Louis Arthur Fallot (1850-1911)
• Incidence- 10 % of all forms of congenital heart disease
• The most common cardiac malformation responsible for
cyanosis after 1 year of age.
• Affecting boys more than girls.
• The four components of TOF are
- Ventricular septal defect
- Obstruction to right ventricular
outflow
- Overriding of the aorta
- Right ventricular hypertrophy

49. • Appearance of cyanosis -After neonatal period
• Hypoxemic Spells
• Low birth weight or development delay
• easy fatigability.
• Cyanosis
• Clubbing
• Polycythemia
• Tachypnea

50. • RV tap in left sternal border
• Systolic thrill in upper and mid left sternal borders
• Ejection click which originates from aorta
• S2 is single due to absent pulmonary component
• A loud ejection type systolic murmur heard at the mid and upper
left sternal border
• This murmur originates from the Pulmonary stenosis .
• Intensity of the murmur depends of the severity of pulmonary
stenosis or RVOT obstruction.
• More severe the obstruction, shorter and softer murmur will be
heard.
• In Pulmonary atresia, murmur is either absent or very soft

51. Variants in TOF
• Acyanotic or pink TOF – RVOT obstruction is mild, so clinical
picture resembles VSD
• Pentalogy of Fallot – TOF with ASD
• Tetralogy of Fallot with Pulmonary atresia
• Tetralogy of Fallot with Absent Pulmonary Valve
• Tetralogy of Fallot with absence of branch pulmonary artery
Syndromes associated with TOF
 Fetal hydantoin syndrome
 Fetal carbamazepine syndrome
 Fetal alcohol syndrome
 Maternal phenylketonuria (PKU) birth defects
 CATCH 22 – Cardiac defects, abnormal facies, thymic hypoplasia,
cleft palate, hypocalcemia

52. • Hematology
• Polycythemia secondary to cyanosis (hematocrit >65%)
• Anemia – due to relative iron deficiency
• Electrocardiography-Right axis deviation, Right ventricular
hypertrophy.
• X-ray-
- Normal size heart
- Pulmonary vascular markings are decreased
- Concave main pulmonary artery segment with an
upturned apex – BOOT shaped heart or
coeur en sabot
- Right atrial enlargement (25%)
- Right aortic arch (25%)
• Echocardiography
• Angiogram
Investigations

53. Hypoxemic spell
• Hyper cyanotic or Tet or cyanotic or hypoxic spell
• Mechanism - Secondary to infundibular spasm and/or decreased
SVR with increased right-to-left shunting at the VSD, resulting in
diminished pulmonary blood flow
• Peak incidence 2 - 4 months
• Usually occurs in morning after crying, feeding or defecation
• Severe spell may lead to limpness, convulsion, cerebrovascular
accident or even death.
• Sudden onset of cyanosis or deepening of cyanosis
• Sudden onset of dyspnea
• Alterations in consciousness, encompassing a spectrum from
irritability to syncope
• Decrease in intensity or even disappearance of systolic murmur

54. Hemodynamics of Spell-
 Increased activity
 Increased respiration
 Increased venous return
 Fixed pulmonary blood flow
 Increased (RV) to (LV) shunt
 Increased cyanosis
Hemodynamics of Squatting
 Decreased venous return
 Increased systemic vascular resistance
 Increased pulmonary blood flow
 Decreased cyanosis
Squatting Equivalent –
- Knee Chest position,
- child sitting with flexed limbs,
- mother carrying the child with folded limbs and others

55. Treatment- Hypoxemic spell
• Knee chest position or squatting – decreases systemic venous
return and increases systemic vascular resistance at femoral
arteries
• Morphine sulphate – 0.2mg/kg subcutaneously or intramuscularly,
suppresses the respiratory centre and abolishes hyperpnea
• Oxygen has little effect of arterial oxygen saturation
• Acidosis should be treated with sodium bicarbonate 1mEq/kg
administered intravenously.
• If Hypoxemic spell not fully respond-
- Vasoconstrictor: Phenylephrine 0.02 mg/kg IV
- Propranolol 0.01 to 0.25 mg/kg slow IV push, reduces the heart
rate and may reverse the spell.
- Ketamine 1 – 3 mg/kg over 60 secs, increases systemic vascular
resistance and sedates the patient.

56. Complications of TOF  Erythrocytosis
 Brain abscess
 Acute gouty arthritis
 Infective endocarditis
 Cerebrovascular thrombosis
 Delayed puberty
Treatment of TOF – Medical
• Prevention of Hypoxemic spell.
• Relative iron deficiency anemia should be detected and treated
since anemic children are more susceptible to cerebrovascular
complications
• Balloon dilatation of right ventricular outflow tract and pulmonary
valve – not widely practiced
• Maintenance of good dental hygiene and infective endocarditis
prophylaxis.
• Hematocrit has to maintained <65%, Phlebotomy may be needed
to manage polycythemia

57. Systemic – Pulmonary Shunt
1. Blalock-Taussig Shunt: anastomosed between the subclavian artery
and ipsilateral PA.
2. Gore-Tex Interposition shunt: Placed between the subclavian and
ipsilateral PA,.
3. Waterston Shunt: anastomosed between ascending aorta right PA
4. Potts Shunt: anastomosed between descending aorta and left PA.

58. Dr. Blalock operating on TOF patient at Hopkin

59. Eileen Saxon
• The first operation for blue
babies called Tetralogy of Fallot
was done on November 29, 1944
at Johns Hopkins Hospital in
Baltimore, Maryland.
• The first patient was a girl
named Eileen Saxon.

60. Tricuspid Atresia
• Uncommon form of congenital heart disease.
• It affects about 5 in every 100,000 live births.
• The tricuspid heart valve is missing or abnormally developed.
• The defect blocks blood flow from the right atrium to the right
ventricle.
• If the tricuspid valve does not open, the blood cannot flow from
the right atrium to the right ventricle => blood ultimately cannot
enter the lungs.
• Instead, the blood passes through a hole between the right and left
atrium.
• In the left atrium, it mixes with oxygen-rich blood returning from
the lungs.
• This mix of oxygen-rich and oxygen-poor blood is then pumped
out into the body from the left ventricle.
• This causes the oxygen level in the blood to be lower than normal.

61. Risk factors
 A mother who had German measles (rubella)
 A parent who has a congenital heart defect
 Older parental age at conception
 Mother's obesity
 Drinking alcohol during pregnancy
 Smoking before or during pregnancy
 A mother who has poorly controlled diabetes
 Use of medications during pregnancy-isotretinoin (Claravis,
Amnesteem)
 Down syndrome

62.  Fatigue
 Poor growth
• Marked Cyanosis present from birth
• ECG with left axis deviation, right atrial
enlargement and LVH.
• CXR : decreased pulmonary blood flow
and oligemic lung field.
Complications
 arrhythmias
 Chronic diarrhea ( protein-losing enteropathy)
 Heart failure
 Ascites
 pleural effusion
 Blockage of the artificial shunt
 Strokes and other nervous system complications
 Sudden death

63. Treatment
• Prostaglandin E1 may be used to keep the ductus arteriosis open
so that blood can circulate to the lungs.
• Glenn shunt or hemi-Fontan procedure. This procedure connects
half of the veins carrying oxygen-poor blood from the upper half
of the body directly to the pulmonary artery. The surgery is most
often done when the child is between 4 to 6 months old.
• Final step is the fontan procedure.
Prognosis-surgery will improve the condition.

64. Ebstein’s Anomaly
• Accounting for <1% of all congenital heart defects presenting in ≈1
per 200,000 live births.
• A congenital heart defect in which the septal and posterior leaflets
of the tricuspid valve are displaced towards the apex of the right
ventricle of the heart.
• 50% of individuals with Ebstein's anomaly have an associated shunt
between the right and left atria, either an atrial septal defect or
a patent foramen ovale.

66. • Intermittent Cyanosis
• Multiple Clicks
• Right atrium is huge - Atrialisation of Right Ventricle
• S3 heart sound
• S4 heart sound
• Triple or quadruple gallop
• Systolic murmur of tricuspid regurgitation = Holosystolic or early
systolic murmur.
• Right atrial hypertrophy
• Right ventricular conduction defects
• Wolff-Parkinson-White syndrome often accompanies
Signs and symptoms
Risk factors
- women taking lithium during the first trimester of pregnancy
- in those with Wolff-parkinson-white Syndrome.

67. Chest Radiography
• The cardiac silhouette -globe-shaped heart with a narrow waist
similar to that seen with pericardial effusion Vascularity of the
pulmonary fields is either normal or decreased.
• A cardiothoracic ratio >0.65 carries a poor prognosis.

68. ECG -
• Signs of right atrial enlargement or tall and broad 'himalayan' P
waves.
• First degree atrioventricular block manifesting as a prolonged pr-
interval.
• Low amplitude QRS complexes in the right precordial leads
• Atypical right bundle branch block.
• T wave inversion in V1-V4 and Q waves in V1-V4 and II, III and
avf.

69. Treatment
1. Medications- procainamide
2. Surgery-Every effort is to preserve the
native tricuspid valve
 Ebstein's anomaly was named after Wilhelm
Ebstein, who in 1866 described the heart of
the 19-year-old Joseph Prescher.
Complications
 Heart failure
 Sudden cardiac arrest
 Stroke

70. Pulmonary Atersia
• Pulmonary atresia is a critical congenital heart defect.
• a birth defect of the pulmonary valve, which controls blood flow
from the right ventricle to the main pulmonary artery.
• In babies with pulmonary atresia, unable to get directly from the
right ventricle to the lungs.
• The foramen ovale, often remains open to allow blood flow to the
lungs.
Types of Pulmonary Atresia
 Pulmonary atresia with an intact
ventricular septum
 Pulmonary atresia with a
ventricular septal defect

71. • Cyanosis
• Respiratory difficulty
• Problems breathing
• Poor feeding
• Extreme sleepiness
• Pulse oximetry
• Chest X-ray.
• Electrocardiogram (ECG
• Cardiac catheterization

72. Complications-
• Delayed growth and development
 Seizures
 Stroke
 Infectious endocarditis
 Heart failure
 Death
Treatment
• Prostaglandin E1-used for treatment of pulmonary atresia, as it
stops the ductus arteriosus from closing, allowing mixing of the
pulmonary and systemic circulations
• A shunt can be created between the aorta and the pulmonary artery
to help increase blood flow to the lungs.
• Fontan procedure.

73. Transposition of Great Arteries
 Aorta is connected to the right ventricle, and the pulmonary artery
is connected to the left ventricle.
 This is the reverse of a normal heart.
 The aorta should normally be connected to the left ventricle.
 The pulmonary artery should normally be connected to the right
ventricle.
 This means that:
- Oxygen-poor blood is sent to the body
instead of to the lungs.
- Oxygen-rich blood returns to the lungs
instead of going to the body.

75. Complications of untreated TGA include:
o Heart valve problems
o Abnormal heart rhythm
o Heart failure
o Lung problems
o Death
Symptoms-
• Cyanosis in the first hours of birth
• Tachypnea
• Tachycardia
• Poor feeding

76. Other defects associated with transposition of the great arteries-
- Atrial septal defect (ASD)
- Ventricular septal defect (VSD)
- Patent ductus arteriosus (PDA)
Risk factors-
• A history of German measles (rubella) or another viral illness in
the mother during pregnancy
 Drinking alcohol during pregnancy
 Smoking during pregnancy
 A mother who has poorly controlled diabetes

77. • In this rare type of transposition of the great arteries.
• congenitally corrected transposition.
• two ventricles are switched so that the left ventricle is on the
heart's right side and receives blood from the right atrium, and the
right ventricle is on the heart's left side and receives blood from
the left atrium.
• Because the circulation is congenitally corrected, some people
with this rare condition may not experience symptoms for many
years and go undiagnosed until adulthood.
Levo-transposition of the great arteries

78. dextro-Transposition of the Great Arteries (d-TGA)
• two main arteries carrying blood out of the heart – the main
pulmonary artery and the aorta – are switched in position, or
“transposed.”
• In babies with d-TGA, oxygen-poor blood from the body enters the
right side of the heart.
• But, instead of going to the lungs, the blood is pumped directly
back out to the rest of the body through the aorta.
• Oxygen-rich blood from the lungs entering the heart is pumped
straight back to the lungs through the main pulmonary artery.
• Often, babies with d-TGA have other heart defects- ventricular
septal defect or atrial septal defect that allow blood to mix so that
some oxygen-rich blood can be pumped to the rest of the body.
• The patent ductus arteriosus also allows some oxygen-rich blood
to be pumped to the rest of the body.

79. Investigations-
• Pulse oximetry
• Chest X-ray
• Electrocardiogram (ECG)
• Echocardiogram (echo)
• Cardiac catheterization
Treatment-
• Prostaglandin E1.-to keep the
ductus arteriosus open.
• balloon atrial septostomy
• arterial switch surgery

80. Truncus Arteriosus
• a rare form of congenital heart disease that
presents at birth.
• Prevalence- less than 1%
• truncus arteriosus fails to properly divide into
the pulmonary trunk and aorta.
• single blood vessel (truncus arteriosus) comes
out of the right and left ventricles, instead of the
normal 2 vessels (pulmonary artery and aorta).
• This results in one arterial trunk arising from the
heart and providing mixed blood to the coronary
arteries, pulmonary arteries, and systemic
circulation.
• associated with chromosome 22q11 deletions
(DiGeorge Syndrome).

81. Anatomical changes associated with this disorder –
• single artery arising from the two ventricles which gives rise to both
the aortic and pulmonary vessels
 abnormal truncal valve
 right sided aortic arch in about 30% of cases (not shown)
 large ventricular septal defect
 pulmonary hypertension
 complete mixing occurring at level of the great vessel
 right-to-left shunting of blood.
Syndromes associated with truncus arteriosus –
- 22q11 deletion syndrome
- DiGeorge syndrome
- velocardialfacial syndrome
- conotruncal anomaly face syndrome

82. Classification-
Type I: truncus -one pulmonary artery - two lateral pulmonary arteries
Type II: truncus -> two posterior/posterolateral pulmonary arteries
Type III: truncus -> two lateral pulmonary arteries
Mechanism-
 In truncus arteriosus, oxygen-poor blood and oxygen-rich blood are
mixed together as blood flows to the lungs and the rest of the body.
 much blood goes to the lungs and the heart works harder to pump
blood to the rest of the body.
 Also, instead of having both an aortic valve and a pulmonary valve,
babies with truncus arteriosus have a single common valve (truncal
valve) controlling blood flow out of the heart.
 The truncal valve is often abnormal.

83. Symptoms-
 Cyanosis
 growth failure
 Fatigue
 Lethargy
 Poor feeding
 tachypnea
 dyspnea
 clubbing
Complications
 Heart failure
 pulmonary hypertension

84. Diagnosis-
 Cyanosis presents at birth
 Heart failure may occur within weeks
 Systolic ejection murmur is heard at the left sternal border
 Widened pulse pressure
 Bounding arterial pulses
 Loud second heart sound
 Biventricular hypertrophy
 Cardiomegaly
 Increased pulmonary vascularity
 Hypocalcemia (if associated with DiGeorge syndrome)
 Pulse oximetry
• Electrocardiogram
• Echocardiogram
• Chest X-ray
• Cardiac MRI
• Cardiac catheterization

85. Treatment for truncus arteriosus-
Open heart surgery

86. Hypoplastic Left Heart Syndrome
• a rare congenital heart defect in which the left side of the heart is
severely underdeveloped.
• 2-3% of all cases of congenital heart disease.
• It may affect the left ventricle, aorta, aortic valve, or mitral valve.
• Often have an atrial septal defect.
• Closing of the ductus arteriosus in a heart that is severely
underdeveloped on the left results in cyanosis and respiratory distress
which can progress to
cardiogenic shock and death.
• The first symptoms are cyanosis that
does not respond to oxygen administration
or poor feeding.
• Peripheral pulses may be weak and
extremities cool to the touch.

87. • Left side of the heart cannot pump oxygen-rich blood to the body
properly.
• During the first few days of life for a baby with hypoplastic left
heart syndrome, the oxygen-rich blood bypasses the poorly
functioning left side of the heart through the patent ductus
arteriosus and the patent foramen ovale.
• The right side of the heart then pumps blood to both the lungs and
the rest of the body.
• However, among babies with hypoplastic left heart syndrome, when
these openings close, it becomes hard for oxygen-rich blood to get
to the rest of the body.

88. • Often with low birth weight and premature birth.
• These neonates quickly decompensate and develop acidosis and
cyanosis.
• Rapid, difficult breathing
• Poor feeding
• Cold hands and feet
• Being unusually drowsy or inactive
• ECG- right axis deviation and right ventricular hypertrophy are
common.
• Chest x-ray may show a large heart or increased pulmonary
vasculature.
• Neonates with HLHS do not typically have a heart murmur, but in
some cases, a pulmonary flow murmur or tricuspid
regurgitation murmur may be audible.
• Co-occurring tricuspid regurgitation or right ventricular dysfunction
can cause hepatomegaly to develop.

89. Surgery- multiple surgeries help to restore heart function.
1. Norwood Procedure
This surgery usually is done within the first 2 weeks of a baby’s life.
2. Bi-directional Glenn Shunt Procedure
This usually is performed when an infant is 4 to 6 months of age.
3. Fontan Procedure
This procedure usually is done sometime during the period when an
infant is 18 months to 3 years of age.
Treatments

90. It is associated with genetic syndromes-
- trisomy 13 (Patau syndrome)
- trisomy 18 (Edwards syndrome)
- partial trisomy 9
- Turner's syndrome (XO)
- Jacobsen syndrome (11q deletion syndrome)
- Holt-Oram syndrome
- Smith-Lemli-Opitz syndrome
Presence of a cystic hygroma increases the risk of HLHS in a fetus
Prognosis-
• 95% of untreated infants with HLHS die in the first weeks of life.
• Early survival has improved since the introduction of the
Norwood procedure.
• Prognosis is dependent upon the health of the child.

91. Single Ventricle
• Occurs in five of every 100,000 live births.
• one ventricle is severely underdeveloped, or ventricular septal wall
did not form.
• mixing of oxygenated and deoxygenated blood
Forms of single ventricle defect include:
- Tricuspid atresia
- Hypoplastic left heart syndrome
- Mitral valve atresia
- Double-inlet left ventricle
- Double-outlet right ventricle
- Cardiac heterotaxy defects (isomerism)
Surgical intervention - Fontan procedure,

92. Complications
 Arrhythmias
 Esophageal varices
 Heart failure with thrombus formation
 Increased risk for decompensation with anesthesia
 Long-term cyanosis
 Protein-losing enteropathy
 Recurrent laryngeal nerve injury
 Reduced height and somatic development
 Renal dysfunction
 Systemic venous-to-pulmonary venous and systemic artery-to-
pulmonary artery collateral

93. Total Anomalous Pulmonary Venous Connection
• total anomalous pulmonary venous return
• a rare cyanotic congenital heart defect
• all four pulmonary veins are malpositioned and make
anomalous connections to the systemic venous circulation.
• Normally, pulmonary veins return oxygenated blood from the
lungs to the left atrium where it can then be pumped to the rest
of the body
• A patent foramen ovale, patent ductus arteriosus or an atrial
septal defect must be present, or else the condition is fatal.

94. • Variants:-
1. Supracardiac (50%): blood drains to one of the innominate
veins (brachiocephalic veins) or the superior vena cava;
2. Cardiac (20%)- blood drains into coronary sinus or directly into
right atrium.
3. Infradiaphragmatic (20%)- blood drains into portal or hepatic
veins; and a mixed (10%) variant.
• TAPVC can occur with obstruction, which occurs when the
anomalous vein enters a vessel at an acute angle and can cause
pulmonary venous hypertension and cyanosis because blood
cannot enter the new vein as easily.

95. Signs and symptoms-
• right ventricular heave
 Loud S1
 fixed split S2
 S3 gallop
 systolic ejection murmur at left upper sternal border
 cardiomegaly
 right axis deviation on ECG
 Snowman sign or `figure of 8 configuration` on chest radiograph
 right ventricular hypertrophy
 cyanosis, tachypnea, dyspnea since the overloaded pulmonary
circuit can cause pulmonary edema
 Cottage-loaf sign, that is, chest X-ray appearance similar to a
cottage loaf, also known as the ‘snow man’ sign or ‘figure of 8’
sign.

96. Treatment
 oxygen
 Prostaglandin therapy.
 ECMO (extracorporeal membrane oxygenation).

97. Thanks a lot