Congenital Heart Disease Cyanotic Leonardo A. Pramono MD

Congenital Heart DiseaseCyanotic

Leonardo A. Pramono MD

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

Cyanosis Things to think Causes Findings

CNS depression Perinatal asphyxiaHeavy metal disorderIntrauterine fetal distress

Shallow iregullar respirationPoor muscle tonecyanosis disappears with O2

Pulmonary disease HMDAtelectasisPneumothorax, pericardial effusisonCDHPersistent PHN

Tachypnic, DOB with retraction gruntingcrackles, 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+ murmurCXR : cardiomegaly, increase or decrease PVM, little or no increase in paO2 with O2 administration

Cyanosis Things to do

• Confirm presence of cyanosis– Pulse oximetry– ABG

• Confirm cardiac pathology– CXR– ECG– 2Decho– Cardiac catheter and angiography

Cyanotic heart disease in connection on pulmonary blood flow

CHD Cyanotic

• Increased Pulmonary Blood Flow

• Right Ventricular Hyperthrophy

• Transposition of the Great Arteries– dTGA– dTGA w/ intact VS– TGA w/ VSD – L-TGA

• Total Anomalous Pulmonary Venous Return

• Hypoplastic Left Heart Syndrome

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

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 22q11 ( DiGeorge syndrome)

TGA

d-TGA

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

TGA• When TGA is suspected, an infusion of prostaglandin E1 should be

initiated immediately to maintain patency of PDA and improve oxygenation (dose : 0.01-0.20 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)

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

Types1. Supracardiac (most

common): Common pulmonary vein into SVC

2. Cardiac: Pulmonary vein into coronary sinus or RA

3. Subdiaphragmatic: Common pulmonary vein into IVC, portal vein, ductus venosus, or hepatic vein

4. Mixed type


• 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)



TAPVR Snowman


• 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.

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.

Hypoplastic Left Heart Syndrome (HLHS)

CHD Cyanotic

• Increased Pulmonary Blood Flow

• Left Ventricular Hyperthrophy or Combined Ventricular Hyperthrophy

• Truncus Arteriosus• Single Ventricle• TGA + VSD

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

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.

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

Truncus Arteriosus

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)

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.

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.

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.

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.

Single VentricleObstructed• 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

CHD Cyanotic

• Decreased Pulmonary Blood Flow

• Left Ventricular Hyperthrophy

• Tricuspid atresia• Pulmonary Atresia with

Hypoplastic Right Ventricle

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

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

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

Tricuspid AtresiaDiagnostic • 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 deviationis

Higly suggestive of tricuspid atresia

CHD Cyanotic


• Combined Ventricular Hyperthrophy

• Truncus Arteriosus w/ Hypoplastic Pulmonary Artery

• Single Ventricle with Pulmonic Stenosis

CHD Cyanotic


• Right Ventricular Hyperthrophy

• Tetralogy of Fallot• DORV• Ebstein anomaly

Tetralogy of FallotTetralogy 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).

The consequences of this deviation are the 4 Components :

Tetralogy of FallotPulmonary 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

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.

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”

Tetralogy of Fallot

Complication• Polycythemia +

dehydration = Cerebral tombosis

• Iron Deficiency anemia• Brain abcess ( >2 yo)• Bacterial endocarditis

Management • Surgical repair• Blalock Taussig Shunt

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


Depending on the frequency and severity of hypercyanotic attacks, one or more of the following procedures should be instituted in sequence: (1)placement of the infant on the abdomen in the knee-chest

position while making certain that the infant's clothing is not constrictive

(2)administration of oxygen (although increasing inspired oxygen will not reverse cyanosis caused by intracardiac shunting)

(3)(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.


• 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.

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



• 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.


• 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.


Cyanotic CHD with Decreased PBFDefect 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 Prostaglandin E1 Prostaglandin E1 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

Cyanotic CHD with Increased PBFDefect Simple TGA Truncus

ArteriosusTAPVC w/

obstructionHypoplastic 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 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

Thankyou

Documents

Congenital Heart Disease Cyanotic Leonardo A. Pramono MD