Approach to a patient with

Congenital Cyanotic Heart Disease

W.I.S (2nd May 2018)

 Cyanotic Heart Disease
• Cyanosis due to deoxygenated blood bypassing
the lungs and entering the systemic circulation.

• Can be caused by right-to-left or bidirectional

shunting, or malposition of the great arteries.
 Causes of cyanosis
• If CNS:
– Irregular respiration

– Poor muscle tone

– Improves with stimulation or mechanical ventilation

• If Pulmonary:
– Tachypnea
– Respiratory distress
– Crepitations
– Decreased breath sounds
– CXR findings

– Improvement with O2
• Cardiac Diseases:
– Tachypnea without retractions

– Lack of respiratory findings

– Little or no improvement with O2

– CXR abnormal cardiac silhouette
 Common Cyanotic Lesions
•Decreased Pulmonary Blood Flow
– Tetralogy of Fallot
– Tricuspid Atresia
– Pulmonary Atresia with intact Septum
– Double Outlet Right Ventricle with PS
– TGA with PS
– Ebstein Anomaly
•Increased Pulmonary Flow
– Transposition of the Great Arteries

– Total Anomalous Pulmonary Venous Return

– Hypoplastic Left Heart Syndrome

– Persistent Truncus Arteriosus
 History
• Development and weight gain
• Poor feeding
• Cyanosis and cyanotic spells
• Squatting
• Tachypnea, dyspnea
• Frequent respiratory infections
• Exercise intolerance
• Chest pain, syncope, palpitations
• Neurological Symptoms
 Antenatal and Family History
• Maternal Infections
– Rubella, CMV, Herpes, Coxsackie, HIV
• Maternal Medications, Alcohol and Smoking
– Amphetamines, Lithium, Valproate
• Maternal Conditions
– Diabetes, SLE
• Hereditary Disease
– Marfan, Long QT syndrome, Holt Oram Syndrome
 Physical Examination
• General appearance, weight and nutrition
• Association with chromosomal syndromes and
other systemic malformations
• Colour
• Vital Signs
– Pulse, BP, respiration and temperature
 Pulse and BP
• Examine pulse and BP in all four limbs

• Weak lower limb pulses suggestive of coarctation

• BP compared against age specific percentile curves

 Systemic Examination
• 1st and 2nd heart sounds
– Loud or muffled
– Split

•MURMUR
– Location
– Timing
– Signs of congestive cardiac failure(eg-hepatomegaly
etc)
 Association
Syndrome
s
Associations
Trisomy 21 (Down syndrome) Endocardial cushion defect, VSD, ASD
X0 (Turner Syndrome) Bicuspid Aortic Valve, Coarctation of
Aorta
Trisomy 18, Trisomy VSD, ASD, PDA, coarctation of
13 aorta,
bicuspid aortic or pulmonary valve
Fragile Mitral valve prolapse, aortic
X root
dilatation
Deletion 5p (cri du chat syndrome) VSD, PDA, ASD
CHARGE association VSD, ASD, PDA, TOF, endocardial
(coloboma, heart, cushion defect
atresia
choanae,retardation,
genital, and ear
anomalies)
 Association
Syndrom
sAssociation
e s
DiGeorge sequence, CATCH 22 (cardiac Aortic arch anomalies,
defects, abnormal facies, thymic conotruncal anomalies
aplasia, cleft palate, and
hypocalcemia)
Asplenia Complex cyanotic heart lesions
syndrome with decreased PBF, TGA, TAPVR
Polysplenia Acyanotic lesions with increased
syndrome PBF, PAPVR, dextrocardia, single
ventricle
Congenital rubella PDA, peripheral pulmonic
stenosis
Fetal hydantoin syndrome VSD, PDA, ASD
Fetal Alcohol Syndrome ASD,
VSD
Maternal Diabetes Hypertrophic Cardiomyopathy, VSD, TGA
 Investigations
• Chest Xray:
• Cardiac Size

• Cardiac chambers and great vessels

• Pulmonary vascular markings

• Differentiate with pulmonary disease

 Hyperoxia Test
• Infant on Room Air, get ABG

• Infant on 100% oxygen, get ABG

• PaO2 unchanged = fixed shunt = CCHD

• Max PaO2 <100 = CCHD

• Max PaO2 >200 = No CCHD

 Case
• A 2yr old boy presented with episodes of
becoming blue mostly in the morning.
• O/E-central cyanosis,clubbing.
• No pallor,oedema or respiratory distress.
• CVS-heart was of normal size,parasternal heave
• +ve, systolic thrill palpable over lt.middle sternal
border.S1-Normal,S2-only A2 is audible.
• Liver –not enlarged.
• CXR given below.
• ECG-Rt axis deviation. Dignosis????????
Xray chest
 Tetralogy Of Fallot
• High VSD
– Large enough to equalize pressure

• Pulmonic stenosis
– Usually infundibular, sometimes valvular

• Overriding of the aorta

• Right ventricular hypertrophy

 Associated Anomalies
• Right aortic arch

• Pulmonary atresia

• Left superior vena cava

• Complete AV septal defect

• Tricuspid valve anomalies

• Anomalous coronary arteries

• Anomalies of Pulmonary Artery and branches

 Next W.I.S
• Typical scenarios of Cyanotic heart diseases

• Examination (Long case of T.O.F)