Cyanotic CHD

Welcome to Seminar

Dr. Maimuna SayeedDr. Md. Tariqul Islam

Case Scenario

History• 4 weeks old male • Gets bluish after feeding or crying • Previously well, full-term baby• The family history was negative

Case Scenario (Contd.)

Physical• Vigorous male, growing appropriately• HR= 135, RR= 30, normal BP, no fever• Lungs clear to auscultation b/l, no

wheezes, rhonchi, rales • Purplish lips, hands and feet• Grade III/VI systolic murmur loudest at

lower left sternal border• Liver was 1.5cm below right costal margin

and a normal spleen• Peripheral pulses equal in upper/lower

extremities, cap refill time < 3sec

Case Scenario (Contd.)

Workup• PaO2 of 38mm Hg and a hyperoxia test

showed increase to 48mm Hg• Electrocardiogram showed RVH

Case Scenario (Contd.)

Chest X-ray

What could be the diagnosis

Congenital Cyanotic Heart Disease(Tetralogy of Fallot)

Congenital Cyanotic Heart Disease

Overview

• Cyanosis in newborn• Approach to Cyanotic CHD

Cyanosis in Newborn

• It is the bluish colouration of skin and mucous membrane due to increased deoxygenated haemoglobin in blood.

• Cyanosis becomes visible when there is >3-5g/dl of deoxygenated haemoglobin.

- T. L . Gomella, 2013

Why Cyanosis Develops?

• The degree of cyanosis depends on both oxygen saturation and haemoglobin concentration.

• Cyanosis can be a sign of severe cardiac, respiratory or neurologic compromise.

• Cyanosis can also be caused by a reduced blood oxygen – carrying capacity secondary to an abnormal form of hemoglobin such as methemoglobinemia.

Causes of Cyanosis in Newborn

A. Respiratory Diseases:i. Parenchymal:

• Transient Tachypnea of Newborn (TTN)• Hyaline membrane Disease (HMD)• Aspiration - Meconium, blood, mucus or

milk• Pneumonia• Pulmonary

– Haemorrhage– Edema

Causes of Cyanosis in New-born (Contd.)

ii. Non-Parenchymal:• Airway obstruction

– mucous plug– choanal atresia

• External compression of the lungs– any air leaks– pleural effusion

• Congenital defects– congenital diaphragmatic hernia– hypoplastic lung– adenomatoid malformation– diaphragm abnormality

Causes of Cyanosis in Newborn (Contd.)B. Cardiac causes:

• Transposition of Great Arteries (TGA)• Tetralogy of Fallot (TOF)• Total Anomalous Pulmonary Venous

Return (TAPVR)• Truncus arteriosus • Tricuspid atresia• Ebstien’s anomaly• Single ventricle• Hypoplastic Left Heart• Double outlet right ventricle• Persistent Pul HTN of Newborn (PPHN)

Five

Ts

Causes of Cyanosis in New-born (Contd.)

C. CNS cause:• Hypoxic Ischemic Encephalopathy• Congenital Hydrocephalus• Seizure• Periventricular-intraventricular

hemorrhageD. Miscellaneous:

• Methemoglobinemia• Polycythemia• Hypothermia• Hypoglycemia• Sepsis• Metabolic acidosis

Making the diagnosis

Immediate Questions: • Does the infant have respiratory distress?• Does the infant have a murmur?• Was the infant cyanotic at birth?• Is the cyanosis continuous, intermittent,

cyclical, sudden in onset, or occurring only with feeding or crying?

Making the diagnosis (Contd.)

• Has the baby had the recommended pulse oximetry screening for CHD?

• Is there differential cyanosis?• What is the prenatal & delivery history?

Diagnosis

• After through history and physical examination, investigations according to suspicion.

• Treatment according to cause.

Approach For Congenital Heart Disease In Newborn

Epidemiology of Congenital Heart Diseases• Structural Congenital Heart Disease is 6-8 per 1000

live births• Major cause of death during 1st year of life after

prematurity (3/1000 live births)- John P. Cloherty, Manual of Neonatal Care: 7th Edition

• Congenital heart defects account for 27% of infant deaths worldwide.

- American Heart association Update, 2013

Estimated causes of neonatal mortality around the year 2010 in Bangladesh

Data source: Bangladesh-specific mortality estimates (Liu et al. 2012).

Congenital Heart Disease documentation By NNPD In Bangladesh, June 2014 – July, 2015

Etiology of CHDFactors associated with increased incidence:

High risk of CHD in children:

Prenatal factors: Genetic factors: • Maternal rubella• Radiation• Alcoholism• Age >40 yrs• Insulin dependent

diabetes• Fetal intra uterine

cardiac viral disease

• A sibling with a heart defect

• A parent with CHD• Chromosomal

aberration e.g. Down’s syndrome

• Born with other congenital anomalies

Common Presentations Of CHD• Cyanosis• CHF• Asymptomatic heart murmur• Arrhythmia

Relevant Clues From History For CHD

Family History:The presence of a congenital heart lesion in a first-degree relative can have considerable diagnostic relevance. The recurrence rate in a first-degree relative is 1% to 4%. If there are two affected first-degree relatives, the recurrence rate is 3% to 12%.E.g. ventricular septal defect, patent ductus arteriosus, atrial septal defect, and tetralogy of Fallot

- Arthur J Mos. 1992

History

Maternal & Perinatal History-• Maternal DM (Ventricular septal

hypertrophy) • Maternal Rubella (PDA)• Maternal exposure to alcohol or drugs

Physical Examination

• Dysmorphic face (Trisomies 13, 18, 21)• Colour- Pallor or cyanosis• Signs of respiratory distress like tachypnea, chest

indrawing• Poor perfusions• Pulse volume- bounding (PDA) or Diminished pulses

in the lower extremities (COA)• Blood pressure is ≥10 mmHg in arms than legs in COA

Physical Examination (Contd.)

• Abnormal heart rate (may be high or low than normal)

• Abnormal precordial activity (Dextrocardia, cardiac enlargement, ventricular impulse)

• Abnormal S2 splitting• A single S2 occurs-

– Aortic atresia– Pulmonary atresia (PA)– Truncus arteriosus (TAC) – Severe pulmonary stenosis (PS)

Physical Examination (Contd.)

• Abnormal extra heart sounds (gallop, pericardial friction rub)

• Pathologic murmurs (should be distinguished from innocent murmur)

• Hepatomegaly • Extracardiac abnormalities

Diagnostic Tools

• Chest X-ray• Electrocardiogram• Echocardiogram• Arterial Blood Gas• Hyperoxia test• Pulse oxymetry

Cyanotic heart disease↑ Pulmonary Flow ↓ Pulmonary Flow• TGA • TOF• Single Ventricle • Pulmonary Atresia• Truncus Arteriosus • Tricuspid Atresia• TAPVR w/o Obstruction • TAPVR With Obstruction• Single Ventricle • Double Outlet Right Ventricle• Hypoplastic Left Heart

Syndrome• Ebstein Anomaly (of Tricuspid

Valve)

Transposition of the Great Arteries

Complete Transposition of the Great Arteries

• 5% of all CHD • Male: Female = 3:1• Most common cyanotic condition that

requires hospitalization in the first two weeks of life

• Aorta arises from the right ventricle• Pulmonary artery arises from the left

ventricle• Defect to permit mixing of two

circulations- ASD, VSD, PDA.• VSD is present in 50% of cases, necessary

for survival

Clinical Symptoms

No mixing lesion and restrictive PFO• Profound hypoxia• Rapid deterioration • Death in first hours of life• Absent respiratory symptoms or limited to

tachypnea • Single second heart sound, no murmurs

Clinical Symptoms (Contd.)

Mixing lesion present (VSD or large PDA)• Large vigorous infant • Cyanotic• Little to no respiratory distress• Most likely to develop CHF in first 3-4

months of life

Diagnosis

CXR• Egg shaped cardiac silhouette• Narrow superior mediastinum

ECG• Normal or RVH

Echocardiography• Transposed ventricular & arterial

connection

Management

• Prostaglandin to establish patency of the ductus arteriosus

• Therapeutic balloon atrial septostomy (Rashkind Procedure) if surgery is not going to be performed immediately

• Improves mixing and pulmonary venous return at the atrial level

• Definitive Surgery:– Arterial switch operation (Jatene) - usually

within first 2 weeks – Mustard operation

Tricuspid Atresia

Tricuspid Atresia (Contd.)

• Represents about 2% of structural heart lesion

• Tricuspid valve fails to develop• Hypoplasia of right heart• Venous blood from right atrium depends

on open ASD or PFO, VSD, PDA

Tricuspid Atresia (Contd.)

Clinical Findings• Cyanosis at birth• Single S2• Systolic murmur along left lower sternal

borderDiagnosis

• Chest X-Ray: Oligemic lung fields

Tricuspid Atresia (Contd.)

• ECG– Left axis deviation– Reveals left ventricular hypertrophy

• Echocardiography– Absence of tricuspid valve

Tricuspid Atresia: Tx

• PGE1 administration necessary • Rashkind Balloon atrial septostomy• Pulmonary artery banding• Glenn shunt

Superior and inferior vena cava are connected directly to the pulmonary arteries - Between 3-6 month

• Fontan procedureAnastomosis between Right atrium & pulmonary artery - Between 1.5 – 3 year of age

Truncus Arteriosus

Truncus Arteriosus (Contd.)

• Failure of primitive truncus arteriosus to divide into aorta and pulmonary Artery

• It constitute 1% of CHD• VSD almost always present• 4 types: According to arise of Pulmonary

Artery from common trunk

Truncus Arteriosus (Contd.)

Clinical Findings:• Minimal cyanosis at birth• Congestive Heart failure develops in 2-3 weeks • Bounding pulses, pulse pressure widened• Loud, single S2• Systolic murmur heard at left sternal border

Diagnosis:• ECG reveals biventricular hypertrophy• Echocardiography: • Demonstrates the large truncal artery overriding

the VSD and the pattern of origin of the branch pulmonary arteries

Truncus Arteriosus (Contd.)

CXR• Cardiomegaly• Increased pulmonary vascularity

Truncus Arteriosus: Tx

Surgical repair (Rastelli repair)• At 2 to 3 months of age• Closing VSD• Separation of pulmonary arteries from

truncus • Placing conduit between right ventricle

and pulmonary arteries

Tetralogy of Fallot

Tetralogy of Fallot (Contd.)

• Constitute 10% of CHD • Only 20% of TOF are cyanotic at neonatal

period• Variable Degree of Pulmonary stenosis and

size of VSD determine present degree of Cyanosis

Tetralogy of Fallot (Contd.)

Pathophysiology:Increased resistance by the pulmonary stenosis causes deoxygenated systemic venous return to be diverted from RV, through VSD to the overriding aorta and systemic circulation systemic hypoxemia and cyanosis

Tetralogy of Fallot (Contd.)

Symptoms:• Dyspnea on exertion or when crying• Tet spells: irritability, cyanosis,

hyperventilation and sometimes syncope or convulsions due to cerebral hypoxemia.

Tetralogy of Fallot (Contd.)

Patients learn to alleviate symptoms by squatting which increases systemic resistance and decreases the right-to-left shunt and directs more blood to the pulmonary circulation.

Tetralogy of Fallot (Contd.)

Physical exam:• Clubbing of the fingers and toes• Single S2• Systolic ejection murmur heard at the

upper left sternal borderLab Studies:

• CXR: prominent RV• ECG: RVH, right axis deviation• ECHO: displays and quantifies extent of RV

outflow tract obstruction

Tetralogy of Fallot (Contd.)

Complication:• Hyper cyanotic spell• Severe Polycythemia• Cerebral thrombosis• Cerebral abscess• Infective endocarditis• Heart failure• Delayed growth, development and

puberty

Tetralogy of Fallot (Contd.)

Management:• Correction of acidosis• IV infusion of Prostaglandin E1 followed by

palliative surgery• Correction of anemia by iron therapy • Correction of dehydration.• Treatment of cyanotic spell• Treatment of polycythemia: Blood may be

replaced by plasma, dextran or saline after phlebotomy.

• Prophylactic antibiotic

Cyanotic Spell - Treatment

• Knee chest position • Oxygen inhalation• Morphine: 50-100 µg/kg (sc, im, iv) • Propranolol: 20 µg/kg iv• Phenylephrine: 20 µg/kg iv • Heavy sedation/anesthesia• Assisted Ventilation

Definitive surgical Palliative shunt procedure

Modified Ballot-Taussing (Gore-Tex interposing)

shunt

Between the subclavian artery

and ipsilateral pulmonary artery

Complete surgical repair

Patch closure of the VSD

Widening of the RVOT

Pulmonary valvectomy

Total Anomalous Pulmonary Venous Return

Pathophysiology

• The pulmonary veins drain into the RA or its venous tributaries rather than the LA

• A interatrial communication (ASD or PFO) is necessary for survival

• Systemic and pulmonary venous blood are completely mixed thus produces cyanosis

Types of TAPVR

• Supracardiac (50%): Common pulmonary vein drains into the SVC via vertical vein

• Cardiac(25%): The common PV drains into the right atrium and/or the coronary sinus

• Infracardiac(20%): The common PV drains into the IVC or one of its major tributaries often via ductus venosus

• Mixed(5%)

Features

Unobstructed PVR• Mild to moderate desaturation, signs of

CHF • Systolic murmur heard at the LSB

Obstructed PVR• Severe cyanosis• Respiratory distress• Infants are severely ill• Fail to respond to mechanical ventilation

Diagnosis

Chest X-Ray:• Snowman or figure of 8 appearance• Cardiomegaly• Plethoric lung field

Diagnosis (Contd.)

ECG:• RVH

Echo:• RVH• Identify pattern of abnormal pulmonary

venous connection

Treatment

• Digitalis and diuretics to treat heart failure• Corrective surgery

Hypoplastic Left Heart

Hypoplastic Left Heart

• 2-3% of all CHD• Presents first week of life, as PDA closes

symptoms develop• Ductal dependant systemic blood flow

Clinical Feature

• Cyanosis• Poor perfusion• Absent or weak pulse• Right parasternal heave• Systolic murmur

Diagnosis

• Chest X-Ray– Cardiomegaly– Plethoric

• ECG– RVH

• ECHO– Absence or hypoplasia of mitral valve & aortic

root– small left atrium & left ventricle

Treatment of Hypoplastic Left Heart

• Correction of acidosis & hypoglycemia• PGE1• Balloon dilatation of atrial septum• Norwood procedure• Sano procedure

Single Ventricle

Clinical Feature

• Cyanosis • Poor peripheral perfusion • The first heart sound is normal• The second heart sound is single & loud • A systolic ejection murmur

Diagnosis (Contd.)

Chest radiography:• With pulmonary stenosis, the cardiac

silhouette is normal to mildly enlarged. Pulmonary vascularity is not increased.

• With arch obstruction, the cardiac silhouette is usually at least mildly enlarged. Pulmonary vascularity usually is increased.

Diagnosis

ECG:Ventricular hypertrophy

Echocardiography:Two-dimensional echocardiography and Doppler analysis is diagnostic for single ventricle.

Treatment

Surgery:• If pulmonary stenosis is severe, a Blalock-

Taussing aortopulmonary shunt• If pulmonary blood flow is unrestricted,

pulmonary arterial banding• The bidirectional Glenn shunt followed by

a modified Fontan operation • If sub-aortic stenosis anastomosing the

proximal pulmonary artery to the side of the ascending aorta (Damus-Stansel Kaye operation).

Double Outlet Right Ventricle

Pathophysiology• Both great arteries arise from the right

ventricle in association with a nonrestrictive VSD.

• Left-to-right shunting across the VSD results in pulmonary over circulation, pulmonary hypertension, and congestive heart failure.

• Pulmonary stenosis results in right-to-left shunting and cyanosis.

Symptoms

• Baby tires easily, especially when feeding• Cyanosis• Congestive heart failure• Single S2• Systolic murmur

Diagnosis

Chest X-Ray• DORV without PS

– Cardiomegaly– plethora

• DORV with PS– Heart is normal– pulmonary vascular is oligemic

Diagnosis (Contd.)

ECGRight axis deviation with Right, Left or bi ventricular hypertrophy

EchoThe location and size of VSD The position of aorta and pulmonary artery out from ventricle

Treatment

• Pulmonary arterial banding followed by surgical correction

• Intraventricular tunnel repair• Switch repair ( arterial, atrial ) Taussing-

Bing heart• Rastelli operation

Ebstein Anomaly

Pathophysiology

• Downward displacement of an abnormal tricuspid valve into the right ventricle

• Right ventricle divided into 2 parts - Arterialized part & normal ventricular myocardium

• Functional pulmonary atresia

Clinical Features

• Cyanosis• Cardiac dysrhythmia• Gallop rhythm• Hollo systolic murmur

Diagnosis

• CXR: Cardiomegaly with huge RA • ECG: Right bundle branch block, tall p

wave, prolonged PR interval• ECHO: Displacement of tricuspid valve,

dilated Right atrium, Right ventricular outflow tract obstruction

Treatment

• Neonate with severe hypoxemia: PGE1 • Starness procedure : Surgical patch closure

of tricuspid valve, atrial septectomy, placement of a aortopulmonary shunt

• Glenn shunt• Fontan operation

Take Home Message

Cyanotic Congenital heart disease in the newborn is a unique and complex problem faced by both neonatologists and cardiologists as it requires skilful handling and balancing of both neonatal issues as well as cardiac physiology. So rapid diagnosis and appropriate management is the key to reduce mortality and morbidity in this delicate newborn population.

Thank You