1. Congenital Heart Disease Cyanotic
Leonardo A. Pramono MD

2. Cyanosis Bluish tinge to the skin
Results from decreased oxygenation of the blood
At least 5 g/dL of reduced Hgb is present  clinically apparent
Thin epidermis places, minimalpigmentation and abundant capillaries  tips of finger and toes, under the nailbeds, bucal mucosa

4. Cyanosis Things to think
Causes
Findings
CNS depression
Perinatal asphyxia
Heavy metal disorder
Intrauterine fetal distress
Shallow iregullar respiration
Poor muscle tone
cyanosis disappears with O2
Pulmonary disease
HMD
Atelectasis
Pneumothorax, pericardial effusison
CDH
Persistent PHN
Tachypnic, DOB with retraction grunting
crackles, decreased breath sound. Cyanosis relieved by O2
CARDIAC DISEASE
Cyanotic CHD R-L shunt
Tachypnic no retraction, no crackles nor abnormal breath sounds, unless CHF
+ murmur
CXR : cardiomegaly, increase or decrease PVM, little or no increase in paO2 with O2 administration

5. Cyanosis Things to do Confirm presence of cyanosis
Pulse oximetry
ABG
Confirm cardiac pathology
CXR
ECG
2Decho
Cardiac catheter and angiography

6. Cyanotic heart disease in connection on pulmonary blood flow
Cyanotic Defects
PBF
LVH/CVH
TA, SV, TGA+VSD
RVH
TGA, TAPVC, HLHS
LVH
TA w/HPA, SV w/ PS
CVH
Tri-At, PA w/ HRV
TOF, DORV, Ebstein

7. CHD Cyanotic Transposition of the Great Arteries Increased
dTGA
dTGA w/ intact VS
TGA w/ VSD
L-TGA
Total Anomalous Pulmonary Venous Return
Hypoplastic Left Heart Syndrome
Increased
Pulmonary Blood Flow
Right Ventricular Hyperthrophy

8. Transposition GA common cyanotic CHD accounts for ≈5% of all CHD
The aorta arises from the right ventricle and the pulmonary artery from the left ventricle
in d-TGA the aorta is anterior (N = posterior) and to the right of the pulmonary artery
Desaturated blood returning from the body to the right side of the heart goes inappropriately out the aorta and back to the body again
oxygenated pulmonary venous blood returning to the left side of the heart is returned directly to the lungs

9. Transposition GA They should have a shunt for a survival
VSD
PFO/ASD
PDA
Accompanied with PS  decreased PBF
common in IDM and in males (3 : 1)
d-TGA + pulmonic stenosis or right aortic arch deletion of chromosome 22q ( DiGeorge syndrome)

10. TGA

11. d-TGA

12. TGA Simple TGA  TGA with no VSD PDA dependent
Pulse oximetry pre ductal and post ductal
PE : Tachypnea and cyanosis on first hour of life, murmurs +/- (VSD, PDA, PS) , S2 single and loud/split (ASD)
Diagnostic :
ECG : normal, right sided-neonatal heart
CXR : Egg shape, increased PBF (decrease if with PS)
2Decho
Cardiac Catheter

13. TGA
When TGA is suspected, an infusion of prostaglandin E1 should be initiated immediately to maintain patency of PDA and improve oxygenation (dose :  ug/kg/min)
Because of the risk of apnea associated with prostaglandin infusion, an individual skilled in neonatal endotracheal intubation should be available.
Hypothermia intensifies the metabolic acidosis resulting from hypoxemia, and thus the patient should be kept warm.
Prompt correction of acidosis and hypoglycemia is essential.
Infants who remain severely hypoxic or acidotic despite prostaglandin infusion should undergo Rashkind balloon atrial septostomy
Surgical management : arterial switch (Jatene) procedure , atrial switch procedure (Mustard or Senning operation)

14. Total Anomalous Pulmonary Venous Return (TAPVR)
(TAPVR) is associated with total mixing of systemic venous and pulmonary venous blood flow within the heart and thus produces cyanosis.
The heart has no direct pulmonary venous connection into the left atrium
Types
Supracardiac (most common): Common pulmonary vein into SVC      
Cardiac: Pulmonary vein into coronary sinus or RA      
Subdiaphragmatic: Common pulmonary vein into IVC, portal vein, ductus venosus, or hepatic vein      
Mixed type

15. Total Anomalous Pulmonary Venous Return (TAPVR)
The clinical manifestations of TAPVR depend on the presence or absence of obstruction of the venous channels
If pulmonary venous return is obstructed, severe pulmonary congestion and pulmonary hypertension develop; rapid deterioration occurs without surgical intervention.
Obstructed TAPVR is a pediatric cardiac surgical emergency because prostaglandin therapy is usually not effective.
SITE OF CONNECTION (% OF CASES)
% WITH SIGNIFICANT OBSTRUCTION
Supracardiac (50)
 Left superior vena cava (40) 40
 Right superior vena cava (10) 75
Cardiac (25)
 Coronary sinus (20) 10
 Right atrium (5) 5
Infracardiac (20)
95-100
Mixed (5)

16. Total Anomalous Pulmonary Venous Return (TAPVR)

17. Total Anomalous Pulmonary Venous Return (TAPVR)
Snowman

18. Total Anomalous Pulmonary Venous Return (TAPVR)
Two major clinical patterns of TAPVR are seen, depending on the presence or absence of obstruction.
If with severe obstruction to pulmonary venous return present with severe cyanosis and respiratory distress. Murmurs may not be present. These infants are severely ill and fail to respond to mechanical ventilation.
Rapid diagnosis and surgical correction are necessary for survival.
In contrast, those with mild or no obstruction to pulmonary venous return are usually characterized by the development of heart failure as the pulmonary vascular resistance falls, with mild to moderate degrees of desaturation.
Surgical correction of TAPVR is indicated during infancy
If surgery cannot be performed urgently, extracorporeal membrane oxygenation (ECMO) may be required to maintain oxygenation.

19. Hypoplastic Left Heart Syndrome (HLHS)
The term hypoplastic left heart is used to describe a related group of anomalies that include underdevelopment of the left side of the heart (atresia of the aortic or mitral orifice) and hypoplasia of the ascending aorta.
Pulmonary venous blood passes through an atrial septal defect or dilated foramen ovale from the left to the right side of the heart, where it mixes with systemic venous blood (total mixing lesion).
When the ventricular septum is intact, which is usually the case, all the right ventricular blood is ejected into the main pulmonary artery
The descending aorta is supplied via the ductus arteriosus, and flow from the ductus also fills the ascending aorta and coronary arteries in a retrograde fashion.

20. Hypoplastic Left Heart Syndrome (HLHS)

21. CHD Cyanotic Increased Pulmonary Blood Flow
Left Ventricular Hyperthrophy or Combined Ventricular Hyperthrophy
Truncus Arteriosus
Single Ventricle
TGA + VSD

22. Truncus Arteriosus
In truncus arteriosus, a single arterial trunk (truncus arteriosus) arises from the heart and supplies the systemic, pulmonary, and coronary circulations
A VSD is always present, with the truncus overriding the defect and receiving blood from both the right and left ventricles

23. Truncus Arteriosus
The pulmonary arteries can arise together from the posterior left side of the persistent truncus arteriosus and then divide into left and right pulmonary arteries (type I).
In types II and III truncus arteriosus, no main pulmonary artery is present, and the right and left pulmonary arteries arise from separate orifices on the posterior (type II) or lateral (type III) aspects of the truncus arteriosus.

24. Truncus Arteriosus
Type IV truncus is a term no longer used, since in this case there is no identifiable connection between the heart and pulmonary arteries, and pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCAs) arising from the transverse or descending aorta; this is essentially a form of pulmonary atresia

25. Truncus Arteriosus

26. Truncus Arteriosus
Both ventricles are at systemic pressure and both eject blood into the truncus.
When pulmonary vascular resistance is relatively high immediately after birth, pulmonary blood flow may be normal
If the lesion is left untreated, pulmonary resistance eventually increases, pulmonary blood flow decreases, and cyanosis becomes more prominent (Eisenmenger physiology)

27. Truncus Arteriosus
ECG : right, left, or combined ventricular hypertrophy.
The CXR shows considerable variation. Cardiac enlargement will develop over the 1st several weeks of life, and is due to prominence of both ventricles.
Echocardiography is diagnostic and demonstrates the large truncal artery overriding the VSD and the pattern of origin of the branch pulmonary arteries.
Cardiac catheterization shows a left-to-right shunt at the ventricular level, with right-to-left shunting into the truncus.
Angiography reveals the large truncus arteriosus and more defines the origin of the pulmonary arteries.

28. Truncus Arteriosus
In the 1st few weeks of life, many of these infants can be managed with anticongestive medications; as pulmonary vascular resistance falls, heart failure symptoms worsen and surgery is indicated, usually within the 1st few months.
Delay of surgery much beyond this time period may increase the likelihood of pulmonary vascular disease
Many centers now perform routine neonatal repair at the time of diagnosis.
Surgical management :
the VSD is closed
the pulmonary arteries are separated from the truncus
continuity is established between the right ventricle and the pulmonary arteries with a homograft conduit.

29. Single Ventricle
With a single ventricle, both atria empty through a common atrioventricular valve or via 2 separate valves into a single ventricular chamber, with total mixing of systemic and pulmonary venous return.

30. Single Ventricle
The clinical picture is variable and depends on the associated intracardiac anomalies.
If pulmonary outflow is obstructed, the findings are usually similar to those of tetralogy of Fallot: marked cyanosis without heart failure.
If pulmonary outflow is unobstructed, the findings are similar to those of transposition with VSD: minimal cyanosis with increasing heart failure.

31. Single Ventricle Obstructed With pulmonary stenosis
Cyanosis is present in early infancy
Cardiomegaly is mild or moderate
Left parasternal lift is palpable, and a systolic thrill is common.
The systolic ejection murmur is usually loud
An ejection click may be audible, and the 2nd heart sound is single and loud
unobstructed
present with tachypnea, dyspnea, failure to thrive, and recurrent pulmonary infections.
Cyanosis is only mild or moderate.
Cardiomegaly is generally marked
Left parasternal lift is palpable.
A systolic ejection murmur is present but is not usually loud or harsh
2nd heart sound is loud and closely split.
A 3rd heart sound is common and may be followed by a short mid-diastolic rumbling murmur caused by increased flow through the atrioventricular valves.
The eventual development of pulmonary vascular disease reduces pulmonary blood flow so that the cyanosis increases and signs of cardiac failure appear to improve

32. CHD Cyanotic Decreased Pulmonary Blood Flow Tricuspid atresia
Left Ventricular Hyperthrophy
Tricuspid atresia
Pulmonary Atresia with Hypoplastic Right Ventricle

33. Tricuspid Atresia
No outlet from the right atrium to the right ventricle is present; the entire systemic venous return leaves the right atrium and enters the left side of the heart by means of the foramen ovale or, most often, through an atrial septal defect

34. Tricuspid Atresia
The physiology of the circulation and the clinical presentation will depend on the presence of other congenital heart defects, most notably on whether the great vessels are normally related or are transposed
In patients with normally related great vessels, left ventricular blood supplies the systemic circulation via the aorta.
Blood also usually flows into the right ventricle via a VSD
If the ventricular septum is intact, the right ventricle will be completely hypoplastic and pulmonary atresia will be present

35. Tricuspid Atresia
Pulmonary blood flow (and thus the degree of cyanosis) depends on the size of the VSD and the presence and severity of any associated pulmonic stenosis.
Pulmonary blood flow may be augmented by or be totally dependent on a PDA. The inflow portion of the right ventricle is always missing in these patients, but the outflow portion is of variable size

36. Tricuspid Atresia Diagnostic
ECG: Left axis deviation and left ventricular hypertrophy are generally noted on the electrocardiogram (except in those patients with transposition of the great arteries),
CXR
2Decho, cardiac catheterization if still needed.
Cyanotic heart disease + Left axis deviation is Higly suggestive of tricuspid atresia

37. CHD Cyanotic Decreased Pulmonary Blood Flow
Combined Ventricular Hyperthrophy
Truncus Arteriosus w/ Hypoplastic Pulmonary Artery
Single Ventricle with Pulmonic Stenosis

38. CHD Cyanotic Decreased Pulmonary Blood Flow Tetralogy of Fallot DORV
Right Ventricular Hyperthrophy
Tetralogy of Fallot
DORV
Ebstein anomaly

39. Tetralogy of Fallot
The consequences of this deviation are the 4 Components :
Tetralogy of Fallot is one of the conotruncal family of heart lesions in which the primary defect is an anterior deviation of the infundibular septum (the muscular septum that separates the aortic and pulmonary outflows).

40. Tetralogy of Fallot Pulmonary stenosis
Obstruction to pulmonary arterial blood flow is usually at both the right ventricular infundibulum (subpulmonic area) and the pulmonary valve.
The main pulmonary artery may be small, and various degrees of branch pulmonary artery stenosis may be present.
The degree of pulmonary outflow obstruction determines the degree of the patient's cyanosis and the age of first presentation.
Ventricular septal defect
The VSD is usually nonrestrictive and large, is located just below the aortic valve, and is related to the posterior and right aortic cusps
the aortic root is usually large and overrides the VSD to varying degrees
When the aorta overrides the VSD by more than 50% and if there is a subaortic conus, this defect is classified as a form of double-outlet right ventricle

41. Tetralogy of Fallot
Systemic venous return to the right atrium and right ventricle is normal.
When the right ventricle contracts in the presence of marked pulmonary stenosis, blood is shunted across the VSD into the aorta.
Persistent arterial desaturation and cyanosis result, the degree dependent on the severity of the pulmonary obstruction.

42. Tetralogy of Fallot
The electrocardiogram demonstrates right axis deviation and evidence of right ventricular hypertrophy
CXR : The cardiac silhouette has been likened to that of a boot or wooden shoe (“coeur en sabot”

43. Tetralogy of Fallot Complication
Polycythemia + dehydration = Cerebral tombosis
Iron Deficiency anemia
Brain abcess ( >2 yo)
Bacterial endocarditis
Management
Surgical repair
Blalock Taussig Shunt

44. Paroxysmal hypercyanotic attacks (hypoxic, “blue,” or “tet” spells)
are a particular problem during the 1st 2 yr of life.
The infant becomes hyperpneic and restless, cyanosis increases, gasping respirations ensue, and syncope may follow.
The spells occur most frequently in the morning on initially awakening or after episodes of vigorous crying.
Temporary disappearance or a decrease in intensity of the systolic murmur is usual as flow across the right ventricular outflow tract diminishes.
The spells may last from a few minutes to a few hours. Short episodes are followed by generalized weakness and sleep.
Severe spells may progress to unconsciousness and, occasionally, to convulsions or hemiparesis
The onset is usually spontaneous and unpredictable

45. Paroxysmal hypercyanotic attacks (hypoxic, “blue,” or “tet” spells)
Depending on the frequency and severity of hypercyanotic
attacks, one or more of the following procedures should be
instituted in sequence:
placement of the infant on the abdomen in the knee-chest position while making certain that the infant's clothing is not constrictive
administration of oxygen (although increasing inspired oxygen will not reverse cyanosis caused by intracardiac shunting)
(3) injection of morphine subcutaneously in a dose not in excess of 0.2 mg/kg.
Calming and holding the infant in a knee-chest position may
abort progression of an early spell.

46. Paroxysmal hypercyanotic attacks (hypoxic, “blue,” or “tet” spells)
Correct ion of metabolic acidosis with intravenous administration of sodium bicarbonate is necessary if the spell is unusually severe and the child shows a lack of response to the foregoing therapy.
Repeated blood pH measurements may be necessary because rapid recurrence of acidosis may ensue.
For spells that are resistant to this therapy, intubation and sedation are often sufficient to break the spell.
Drugs that increase systemic vascular resistance, such as intravenous phenylephrine, can improve right ventricular outflow, decrease the right-to-left shunt, and improve the symptoms.
β-Adrenergic blockade by the intravenous administration of propranolol (0.1 mg/kg given slowly to a maximum of 0.2 mg/kg) has also been used.

47. Ebstein’s Anomaly of the Tricuspid Valve
Ebstein anomaly consists of downward displacement of an abnormal tricuspid valve into the right ventricle
The defect arises from failure of the normal process by which the tricuspid valve is separated from the right ventricular myocardium

48. Ebstein’s Anomaly of the Tricuspid Valve

49. Ebstein’s Anomaly of the Tricuspid Valve
The severity of symptoms and the degree of cyanosis are highly variable and depend on the extent of displacement of the tricuspid valve and the severity of right ventricular outflow tract obstruction.
In many patients, symptoms are mild and may be delayed until the teenage years or young adult life
The atrial right-to-left shunt is responsible for cyanosis and polycythemia.
A holosystolic murmur caused by tricuspid regurgitation is audible over most of the anterior left side of the chest.
A gallop rhythm is common and often associated with multiple clicks at the lower left sternal border.
A scratchy diastolic murmur may also be heard at the left sternal border. This murmur may mimic a pericardial friction rub.

50. Ebstein’s Anomaly of the Tricuspid Valve
The electrocardiogram usually shows
RBBB without increased right precordial voltage,
normal or tall and broad P waves
normal or prolonged P-R interval.
Wolff-Parkinson-White syndrome may be present and these patients may have episodes of supraventricular tachycardia.
On roentgenographic examination, heart size varies from slightly enlarged to massive box-shaped cardiomegaly caused by enlargement of the right atrium.
In newborns with severe Ebstein anomaly, the heart may totally obscure the pulmonary fields.

51. Ebstein’s Anomaly of the Tricuspid Valve

52. Cyanotic CHD with Decreased PBF
Defect
TOF
Critical PS
Pulmonary Atresia w/ intact IVS
Tricuspid Atresia
Ebstein’s Anomaly
Anatomy
RVOT obstruction, overriding aorta, VSD, RVH
Thick doming of pulmonary valve and PFO
Atresia of pulmonary valve, intact Intraventricular septal
Atresia of tricuspid orifice, with PFO/true ASD
Displaced tricuspid valve, forms atrium like chamber in right heart, TR, +/- ASD PE
Harsh HSM S2 often single
Long SEM, single S2
Single S2, non specific murmur
+/- single S2, possible HSM of VSD
HSM, gallop rythm with multiple clicks
ECG
Possible RVH and RAD, QRS axis +90 to +180
Possible RVH and RAD
Possible RAE and LVH, QRS axis 0 to +90
Possible LADand LVH, may be pathognomonic QRS axis 0 to +90
Possible RAE, RBBB, 20% WBW
CXR
Boot shaped (absent PA segment) : 25% R sided aortic arch, cardiomegaly
Prominent Pulmonary artery segment, cardiomegaly
Car diomegaly
Cardiomegaly
Massive cardiomegaly due to RAE
Medical Tx
Prostaglandin E1
Tx to decrease PVR
Surgical Tx
TOF repair or shunt, BPV
BPV, if fails valve resection
RCFA, RV outflow reconstruction, BTS
BAS shunt – Glenn Fontan procedure
Tricuspid valve repair in older patient

53. Cyanotic CHD with Increased PBF
Defect
Simple TGA
Truncus Arteriosus
TAPVC w/ obstruction
Hypoplastic Left Heart Syndrome
Anatomy
Aorta to RV, PA to LV
Single arterial trunk exists from the heart + VSD
Pulmonary veins not incorporated in left atrium, drain in systemic veins and obstructed
Underdeveloped aortic root, aortic valve, LV and Mitral valve PE
Ussualy single S2, no specific murmur, RV heave
Ejection click, diastolic murmur from truncal regurgitation
Loud P2, RV heave, gallop
Weak or absent peripheral pulses , shocky, SEM, diffuse rales, loud single S2
ECG
RVH and RAD
BVH
RVH and RAD, 1/3 of of time decreased LV forces
CXR
“Egg on a String” appearance (narrowed mediastinal shadow, and cardiomegaly
Right aortic arch 25% of time, cardiomegaly
Normal heart size with pulmonary edema, mimics beta strep pneumonia
Cardiomegaly and pulmonary edema
Medical Tx
Prostaglandin E1 +/- BAS (palliative)
Inotropes and diuretics
Intubate +/- PGE1
Prostaglandin E1, avoid supplemental O2
Surgical Tx
Arterial switch (Jatene procedure)
Rastelli procedure
Early surgery to direct pulmonary venous return into the left atrium
Norwood procedure, then Glenn and Fontan or transplantation

54. Thankyou