CYANOTIC CONGENITAL

HEART DISEASES

Sojishma M V
Sreelekshmi
 CYANOSIS
Bluish discoloration of skin and mucous membrane due to increased
amount of reduced hemoglobin more than 5g/dl in the capillary bed
 CYANOTIC HEART DISEASE

Reduced pulmonary blood flow Increased pulmonary blood flow

 Tetralogy of Fallot  Transposition of great arteries
 Tricuspid atresia
 Truncus arteriosus
 Ebstein anomaly
 Single ventricle
 Pulmonary atresia
 TAPVC
TETRALOGY OF
FALLOT
 INTRODUCTION
 In 1888,Fallot described Most common cyanotic CHD seen
beyond the age of 1 year

 The most common cardiac malformation responsible for

cyanosis after 1 year of age , constituting almost 75% of all
patients.
 PATHOLOGY
THE 4 COMPONENTS OF TOF ARE

Right ventricular outflow obstruction

Large VSD

Over riding of aorta

Right ventricular hypertrophy

Presence of ASD along with TOF is called pentology of Fallot

 FALLOT PHYSIOLOGY
VSD-PS PHYSIOLOGY
 Free communication leads to equalization of pressure
 Large communications at the ventricular level + varying degree of
pulmonary blood flow obstruction in the form of :
 Sub valvular
 Valvular
 Annular
 Supravalvular stenosis

 Severity of PS determine amount of blood flow through pulmonary

arteries
 HEMODYNAMICS
 Physiologically pulmonary stenosis  concentric right ventricular
hypertrophy without cardiac enlargement + increase in right
ventricular pressure.

 When the right ventricular pressure is high as the left ventricular

pressure  a right ventricular shunt appears

 Once the right ventricular pressure = left ventricular pressure ,

increasing severity of pulmonary stenosis reduces the flow of blood
into the pulmonary artery and increase the right to left shunt
 Loud ejection systolic murmur

 Severity of cyanosis severity of PS

 Severity of PS Intensity of murmur

PATHOPHYSIOLOGY
PULMONARY
STENOSIS

RIGHT VENTRICULAR
HYPERTROPHY

RIGHT VENTRICULAR PRESSURE>LEFT

VENTRICULAR OR AORTIC PRESSURE

RIGHT TO LEFT SHUNT

 CLINICAL FEATURES
 Cyanosis generally present any time after birth
 Clubbing
 Dyspnoea on exertion
 Neonates as well as infants may experience anoxic spells
 Patient assume a sitting posture-squatting as soon as they get
dyspnoeic
 Untreated  Growth and development is usually delayed
HEMODYNAMICS OF SQUATTING
Decreases venous return
Exert pressure on arteries peripheral vascular
resistance

Increased pulmonary blood flow

Decreased cyanosis
Squatting equivalent
Knee chest position
Child sitting with flexed limbs
Mother carrying the child with folded limb
 ANOXIC SPELL(PAROXYSMAL
ATTACKS OF DYSPNOEA)
Hyper cyanotic or Tet or cyanotic or hypoxic spell

MECHANISM: Secondary to infundibular spasm and /or

decreased pulmonary blood flow resulting in increased
right to left shunting at the VSD

 Peak incidence: 2-6months

 Usually occurs in morning after crying, feeding or defecation
 Severe spell may lead to limpness, convulsion, cerebrovascular accident or
even death
 ANOXIC SPELL-TREATEMENT

●Knee chest position or squatting-decreases systemic venous return

and increases systemic vascular resistance at femoral arteries
●Oxygen : 100% inhalation
●Morphine sulphate-0.2mg/kg subcutaneously or intramuscularly
suppresses the respiratory centre and abolishes hyper apnoea
●Propanolol
●Acidosis should be treated with sodium bicarbonate 1mEq/kg
administered intravenously.
KNEE CHEST POSITION
GENERAL EXAMINATION
Cyanosis

Clubbing

Polycythemia

Tachypnea

Tall stature(Marfan)

Mangoloid facies(Down)
CARDIOVASCULAR EXAMINATION
INSPECTION
VITALS Silent precordium
Pulse :normal Cyanosis, clubbing
BP: normal Prominent a wave in jugular
venous pulse

PALPATION
Mild left parasternal heave
Systolic thrill in upper and mid left
sternal border
 INVESTIGATIONS
HEMATOLOGY:

Polycythemia secondary to cyanosis (hematocrit > 65% )

Relative Anemia – due to relative iron deficiency

 CHEST X RAY boot- shaped heart

Reduced lung vasculature

Normal heart size with upturned apex - RVH

Concavity in the region of pulmonary artery ( pulmonary bay )

Pulmonary fields: Oligemic

 ECG

Right ventricular hypertrophy results in right axis deviation

T wave inverted

Early transition of predominant R wave in chest lead V1 to S wave

in V2

DOPPLER

Degree of pulmonary stenosis and VSD

ECHOCARDIOGRAM

Identify overriding of aorta and VSD

CARDIAC CATHETERIZATION .

Done in patients whom operative treatment is

contemplated.
 COMPLICATIONS
 Anoxic spell is potentially fatal

 Anemia ( due to decreased oxygen carrying capacity )

 More prone for infective endocarditis

 Anoxic infarction in CNS can result in hemiplegia

 Intravascular thrombosis and thrombotic strokes can occur

 Brain abscess formation ( irritability, headache, convulsions, vomiting, fever,

neurological deficit)

 Congested retina and papilledema ( polycythemia)

 TREATMENT
MEDICAL MANAGEMENT :
 to reduce complications and to correct anaemia

● PREVENTION OF HYPOXEMIC SPELLS

Oral Propranolol therapy (0.5 - 1.5 mg/kg/dose)
 Iron supplementation
 Antibiotic prophylaxis for endocarditis
 Hematocrit has to be maintained<65%, phlebotomy may be needed to manage
polycythemia.
SURGICAL MANAGEMENT:
1. Definitive: Within 3 months of birth
2. Palliative: SHUNT SURGERIES
• Classic Blalock Taussig shunt ( Subclavian artery to pulmonary artery)
• Gorotex/ Modified B T shunt ( most common)
EBSTEIN ANOMALY
 EBSTEIN ANOMALY

Obstructive lesion

Abnormality of tricuspid valve  diminished pulmonary blood flow

Downward displacement/prolapse of tricuspid valve  part of right ventricular

volume now become part of atrium : atrialization of right ventricle
 HEMODYNAMICS
Tricuspid valve anomaly + atrialization of right ventricle

Obstruction to forward flow of blood + regurgitation of blood from right ventricle

into the right atrium

Progressive dilation of right atrium to accommodate extra volume

Right to left shunt

cyanosis
 CLINICAL FEATURES

history of cyanosis, effort intolerance & fatigue

paroxysmal attacks of tachycardia

Cyanosis  slight to severe

clubbing is present

JVP dominant 'V' wave ;usually no venous engorgement (capacious right atrium)

Precordium quiet with left ventricular apical impulse

Systolic thrill  may be palpable at the left sternal border

Pansystolic murmur: due to tricuspid regurgitation

Quadruple rhythm: irregular blood flow in right heart, right ventricular outflow
tract obstruction & tricuspid regurgitation  multiple added sounds and ejection
clicks heard
ECG
• Prominent p wave
• right Bundle branch block
• 'R' wave in V1 doesn't exceed 7 mm
• Lead v6: Tall R wave & broad s wave
• Wolff Parkinson White type of
conduction abnormality may be
seen
X - ray
• cardiac enlargement  RA and RV
enlargement.
• RA enlarged due to regurgitation from RV
and atrialization of RV
• RA forms right heart border which
displaced laterally--> appear like a box can
fit in : box shaped heart
• Main pulmonary artery segment is
prominent and the aortic knuckle is small
• Pulmonary vasculature diminished
ECHO
• Two dimension
echocardiogram is
diagnostic as it outlines the
displaced tricuspid valve
• Echo also indicates severity
TREATMENT
•PGE1 infusion :
 temporary

some blood flow from increase in pulmonary

Ducts patent
aorta to pulmonary artery blood flow

•Surgical
 obliterating the atrialized portion of the right ventricle and repairing the tricuspid valve.
TRANSPOSITION OF
GREAT VESSELS
 TRANSPOSITION OF GREAT
VESSELS
 TGA is defined as aorta arising from the right ventricle and pulmonary artery
from the left ventricle
 Change in position of aorta and pulmonary artery
 In TGA,
 aorta  lies anterior and to the right of the pulmonary artery. For this reason,
this is also referred to as D-TGA
Since the systemic and pulmonary circulations are separate, survival depends
upon the presence of atrial , ventricular pr aortopulmonary communications
 With intact
ventricular  intense cyanosis at birth
septum / or soon after birth
pure TGA

TGA TGA

 With pulmonary stenosis

With VSD  Without pulmonary
stenosis
 CLINICAL FEATURES
• Patients of complete TGA with intact ventricular septum  cyanosed
at birth

Inter atrial communication

Poor mixing

Neonates present with rapid breathing and congestive

failure within the 1st week of life
 ON EXAMINATION

Severe cyanosis

Congestive failure

Normal 1st sound , single 2nd sound

Insignificant grade 1 – 2 ejection systolic murmur

 X -RAY ECG
egg on string appearance right axis deviation and right
ventricular hypertrophy
Instead of pulmonary artery & aorta being
positioned side to side, they appear
positioned on top of each other in AP View

this appears narrower than normal on

Xray like a string attached to an egg
 Treatment
Pure TGA  emergency intervention needed (since
neonates with intense cyanosis)

Prostaglandin E1-->reduce cyanosis by keeping PDA open

Surgery :
atrial septostomy – RASHKIND procedure
An atrial septostomy is created at the inter atrial septum
causing shunt from LA to RA --> decreases cyanosis
 TGA WITH VSD

treatment can be delayed as compared to pure

TGA

within 3 months after birth

Jatene's arterial switch procedure can be done

CORRECTED TGA
 CORRECTED TGA
In corrected TGA the right atrium is connected to the left ventricle and vice-
versa.

The left ventricle gives rise to the pulmonary artery and right ventricle to the
aorta.

The aorta lies anterior and to the left of the pulmonary artery (hence the
term L-TGA)

• a VSD with or without pulmonic stenosis

• left sided Ebstein anomaly of the tricuspid valve
associated anomalies: • atrioventricular conduction abnormalities including complete
atrioventricular block
 TRICUSPID ATRESIA
DEFINITION
Congenital absence of the tricuspid valve.
• Hypoplastic right ventricle
• No inflow to right ventricle
 TRICUSPID ATRESIA

●Congenital absence of tricuspid valve, with no direct communication between

RA and RV

●Decreased pulmonary blood flow cyanosis

●Associated defects; patent foramen ovale/ASD

●Mixing of blood from right to left side of heart low O 2 saturation

 PATHOPHYSIOLOGY
NORMALLY RELATED GREAT ARTERIES
Systemic blood flow reaching the right atria through superior and inferior vena cava

Reaches left atria through foramen ovale

Mixing of blood

Blood reaches the left ventricle aorta arises from left ventricle

A muscular ventricular septal defect is the only route of blood reaching right
ventricle
 CLINICAL FEATURES
●Clinical presentation depends upon the amount of pulmonary blood
flow
●90% has decreased pulmonary flow
●Features:
●Cyanosed at birth
●Anoxic spells and squatting may be present
 Left ventricular type of apical impulse
●Large “a” wave in JVP
●Enlarged liver with presystolic pulsation
●Electrocardiogram : left axis deviation and LVH
TREATMENT
●Should be started as early as possible

●Medical management PGE1 infusion ; keeps the ductus patent (allows

blood from aorta to flow into pulmonary artery)

●Definitive treatment ;surgery

●Modified Blalock taussing shunt

●Fontans shunt ; IVC connected directly to pulmonary
artery
TOTAL ANOMALOUS PULMONARY

VENOUS CONNECTION (TAPVC)

TOTAL ANOMALOUS PULMONARY
VENOUS CONNECTION (TAPVC)
• Pulmonary veins are connected anomalously such that total pulmonary venous
blood reaching RIGHT ATRIUM instead of joining left atrium.
• Anatomical classification into ;
• SUPRACARDIAC(most common)
• CARDIAC
• INFRACARDIAC
• MIXED
SUPRACARDIAC ; pulmonary veins left innominate
vein/right superior vena cava

CARDIAC; pulmonary veins joins the coronary sinus or enter right atrium
directly

INFRACARDIAC ; pulmonary veins portal vein/inferior

vena cava
HEMODYNAMICS
• Pulmonary venous blood Right atrium(also receives systemic venous
blood)
• Results in almost complete mixing of two venous returns

PATENT FORAMEN OVALE/ASD

• Right atrium left atrium (right-to-left shunt)
• Oxygen saturation of blood in pulmonary artery is often identical with aorta
because of mixing of blood in Right atrium.
• Physiologically two types
i. Patients with pulmonary venous obstruction (Infracardiac type)
ii. Patients without pulmonary venous obstruction (Common)
Pulmonary venous obstruction results pulmonary arterial hypertension,
restriction to pulmonary blood flow
In the absence of obstruction , pulmonary blood flow is large and results in
early onset cardiac failure.
 CLINICAL FEATURES
• NON-OBSTRUCTIVE TAPVC
• Patient presents with cyanosis and congestive failure
• Onset 4-10weeks of age
• Occasionally with large pulmonary blood flow cyanosis is mild or
clinically not recognizable
• Patients are irritable , failure to thrive
• Cardiomegaly , hyperkinetic precordium, normal or attenuated S1
• Widely split and fixed S2
• Ejection systolic murmur , tricuspid flow murmur
• OBSTRUCTIVE TAVPC
• Marked cyanosis and congestive failure
• Within first 1-2 weeks of life
• Physical findings; normal sized heart with parasternal heave
• Normal S1
• Attenuated pulmonic component of S2 , insignificant murmurs
• Tricuspid regurgitation can occur ,results in cardiomegaly
• ECG ; TAPVC with or without obstruction shows Right axis deviation and
Left ventricular hypertrophy LVH

• Chest X ray ; characteristic snowman or figure of 8 configuration in

supracardiac TAPVC (seen only after 2yrs)

• Obstructive TAPVC ; normal sized heart with severe pulmonary venous

HTN resulting in ground glass appearance of lungs
• SNOWMAN’S SIGN OR FIGURE OF 8
• GROUND GLASS APPEARANCE
MANAGEMENT
• Surgery is indicated as early as possible since 80% of infants die within
first 3months of life.
• PROGNOSIS: good after surgery
• Chances of development of pulmonary hypertensive crisis postop.
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