Diagnostic approach to

cyanotic congenital heart disease

Indah Kartika Murni

Department of Pediatrics
DR Sardjito Hospital/Universitas Gadjah Mada
Yogyakarta, Indonesia
 Outlines
• Cyanosis
• Definition, requirement, and influence of hemoglobin level
• Approach to cyanosis in newborn
• Cardiac versus pulmonary origin
• Classification of cyanotic congenital heart diseases
• Increased or decreased pulmonary blood flow
• Common cyanotic congenital heart diseases
• Hemodynamics and diagnosis
 Cyanosis

• Definition: Bluish discoloration of skin & mucous membrane

• Requirement: Reduced Hemoglobin to 5g/100 mL in
cutaneous veins
• Normally, about 2 g/100 mL of reduced Hb is present in the venules
à an additional 3 g/100 mL of reduced Hb in arterial blood produces
clinical cyanosis
 The level of hemoglobin greatly influences
the occurrence of cyanosis
Hb x Desaturation = 3 à Desaturation = 3/Hb

In Hb of 15 g/100 mL:
• Desaturation = 3/15 = 20% à cyanosis appears at SaO2 80%
In Hb of 20 g/100 mL:
• Desaturation = 3/15 = 15% à cyanosis appears at SaO2 85%
In Hb of 6 g/100 mL:
• Desaturation = 3/6 = 50% à cyanosis appears at SaO2 50%
The level of hemoglobin influences the occurrence of cyanosis
 Classification of cyanosis
Central cyanosis Peripheral cyanosis
• The tongue or mucous membrane • Normal arterial oxygen saturation
• the color is not affected by race or • Increased extraction of oxygen by
ethnic background
peripheral tissue
• the circulation is not sluggish in the
• Causes: circulatory shock,
tongue
hypovolemia, vasoconstriction
• Associated with desaturation of
from cold
arterial blood
• Causes: cyanotic CHD, lung
disease, or CNS depression
Causes of
cyanosis
Causes of
cyanosis
Cyanosis of cardiac vs pulmonary origin
• Differentiation of pulmonary and cardiac cyanosis is crucially important for
proper management
• The hyperoxia test helps to differentiate cardiac and pulmonary cyanosis
• Tests the response of PaO2 to 100% oxygen*
• In pulmonary disease, PaO2 rises > 100 mmHg
• In cardiac disease, PaO2 rises 10 – 30 mmHg

*although some exceptions exist

 Cyanosis

Approach to cyanosis
Central cyanosis Peripheral cyanosis

Reduced SaO2 Normal SaO2

Hyperoxitest

Pulmonary origin Cardiac origin

 PaO2 >100mmHg  PaO2 < 30mmHg

The difference between

Differential
right arm and foot:
cyanosis PaO2 >15mmHg or SpO2 >3%

No Yes

Cyanotic CHD
Duct PPHN
dependent
systemic lesion
 Cyanosis

Approach to cyanosis
Central cyanosis Peripheral cyanosis

Reduced SaO2 Normal SaO2

Hyperoxitest

Pulmonary origin Cardiac origin

 PaO2 >100mmHg  PaO2 < 30mmHg

The difference between

Differential
right arm and foot:
cyanosis PaO2 >15mmHg or SpO2 >3%

No Yes

Cyanotic CHD
Duct PPHN
dependent
systemic lesion
 Guidelines to detect critical congenital heart disease in newborn
Child in well-infant nursery 24-48 h of age shortly before discharge if < 24 h of age

Pediatrics 2011;128;e1259
Screen

< 90% in RH or F 90% ̶ <95% in RH & F or ≥ 95% in RH or F and

>3% difference between RH & F ≤ 3% difference between RH & F

Repeat screen in 1 h

< 90% in RH or F 90% ̶ <95% in RH & F or ≥ 95% in RH or F and

>3% difference between RH & F ≤ 3% difference between RH & F

Repeat screen in 1 h

< 90% in RH or F 90% ̶ <95% in RH & F or ≥ 95% in RH or F and

>3% difference between RH & F ≤ 3% difference between RH & F

Positive screen Negative screen

Consult or refer to pediatric cardiologist
 Classification of cyanotic congenital heart disease

A. Pulmonary blood flow

• Decreased pulmonary blood flow
• Increased pulmonary blood flow
Flow diagram of cyanotic congenital heart defects
 Correlation of ECG and chest X-ray
in cyanotic CHD
CYANOSIS
+
RIGHT VENTRICULAR HYPERTROPHY (122/200=61%)
+
RIGHT AXIS DEVIATION

PLETHORA OLIGAEMIA
TGA TF
TPAVD PA
DORV PS + ASD&/OR VSD
PS + TGA/DORV/DOLV

TGA = Transposition of Great Arteries TOF = Tetralogy of Fallot

TAPVD = Total Anomalous Pulmonary PA = Pulmonary Atresia
Venous Drainage PS = Pulmonary Stenosis
DORV = Double Outlet Right Ventricle ASD = Atrial Septal Defect
DOLV = Double Outlet Left Ventricle VSD = Ventricular Septual Defect
 Correlation of ECG and chest X-ray
in cyanotic CHD
CYANOSIS
+ (18/200 = 9%)
NORMAL AXIS

BIVENTRICULAR
NO VENTRICULAR LEFT VENTRICULAR
HYPERTROPHY
HYPERTROPHY HYPERTROPHY
PLETHORA
PLETHORA OLIGAEMIA PLETHORA OLIGAEMIA
TGA
TGA PA DORV TA PA
DORV PTA PTA

TGA = Transposition of Great Arteries PA = Pulmonary Atresia

DORV = Double Outlet Right Ventricle TA = Tricuspid Atresia
PTA = Persistent Truncus Arteriosus
 Correlation of ECG and chest X-ray
in cyanotic CHD
CYANOSIS
+ (18/200 = 4%)
LEFT AXIS DEVIATION

RIGHT VENTRICULAR HYPERTROPHY LEFT VENTRICULAR HYPERTROPHY

PLETHORA PLETHORA OLIGAEMIA

ECD TA TA + PS
TGA TGA
DORV

ECD = Endocardial Cushion Defect TA = Tricuspid Atresia

TGA = Transposition of Great Arteries PS = Pulmonary Stenosis
DORV = Double Outlet Right Ventricle
An easy way to memorize the hexaxial reference system
QRS axis à use Lead I and aVF
QRS axis à use Lead I and aVF
QRS axis:
1. Normally QRS is positive in aVF
2. Negative QRS in aVF = AVSD / tricuspid atresia
3. Biphasic QRS in aVF may be normal
Evaluate RV & LV hyperthropy
1. Check for the standarization mark
2. RV hyperthropy (RVH)

Use lead V1
Three RVH criteria:
1. Upright T waves in V1 after 7 days of age
Normally inverted T waves in V1 after 7 days of age until adolescents
1. RSR’ pattern in V1, R’ is taller than R
2. Pure R in V1 after 6 months of age
RVH: upright T in V1
RVH: rsR pattern in V1
3. LV hyperthropy (LVH)

Use V6
One criteria: R wave in V6 > 4 big boxes
Reduced pulmonary blood
flow

• Small hilus
• Oligemic lung field
 Increased pulmonary blood flow

• Plethoric lung fields

specially at bases

• Pulmonary arteries reach

1/3 lateral hemithorax
 Other information in interpreting chest x-ray

1. Cardiac size: CTR

Cardiomegaly:
- Baby : CTR > 60%
- Child : CTR > 50%
Which chamber is enlarge?
Tetralogy of Fallot

Ferguson et al. RadioGraphics 2007;27:1323–34

Transposition of the great arteries

Ferguson et al. RadioGraphics

2007;27:1323–34
Total anomaly
pulmonary
venous
drainage

Ferguson et al. RadioGraphics

2007;27:1323–34
Ebstein’s anomaly – Box-shaped heart –

Ferguson et al. RadioGraphics

2007;27:1323–34
Classification of cyanotic CHD

B. Clinical presentation of cyanotic CHD

• Central cyanosis à severe hypoxia à cyanotic spell
• Heart failure
• Circulatory collapse
Classification of cyanotic CHD
C. Ages of cyanotic presentation
• Detected within 48 hours
1. TGA
2. Tricuspid atresia
3. Pulmonary Atresia (severe PS with or without VSD)
• Detected within the 1st week
1. Ebstein’s anomaly
• Detected after the 1st week
1. Tetralogy of Fallot
2. TAPVD
 Common cyanotic CHD
• Tetralogy of Fallot
• Transposition of the great arteries
• Tricuspid atresia
• Truncus arteriosus
• Total anomaly pulmonary venous drainage
• Pulmonary atresia
• Ebstein’s anomaly
 Tetralogy of Fallot
• Incidence: 5-8% from all CHD
• Anatomy
Cause: Left-anterior deviation of infundibular septum
• Abnormalities:
• Ventricular septal defect
• Pulmonary stenosis
• Overriding aorta
• Right ventricular hypertrophy
Left deviation à Malalignment VSD and overriding aorta
Anterior deviation à PS à RVH
VSD
Anterior Anterior
Hemodynamics of acyanotic and cyanotic TF
 Tetralogy Fallot
Single 2nd heart sound and ejection systolic murmur
Tetralogy of Fallot
Tetralogy of Fallot

Ferguson et al. RadioGraphics 2007;27:1323–34

ECG :
Tetralogy Fallot
Right axis deviation (RAD)
RVH
Echocardiography
Echocardiography
 Transposition of the great arteries
• Incidence
• 5% of all patients with CHD
• Occur sporadically, is not familial
• Male to female ratio is 2:1
• No racial predilection
• No specific etiologic agent has been identified
• Diabetic mothers, use of amphetamine, trimethadione, and sex
hormones
Anatomy
Hemodynamics of transposition of the great arteries
Classification

• TGA with intact IVS or TGA – IVS (simple TGA)

• TGA – VSD
• TGA – VSD with PS (complex TGA)
Physiology and hemodynamics
Physiology and hemodynamics
• TGA – IVS
• Foramen ovale or ASD and/or PDA
• Intense cyanosis in the early neonatal period
• TGA and a significant-sized VSD
• Mildly cyanosis in the early neonatal period
• Congestive heart failure at the first month of life
• TGA, VSD and PS
• Depends on the degree of pulmonary stenosis
• Similar to tetralogy of Fallot
Clinical features
• Cyanosis
• Prominent parasternal impulse
• Second heart sound can be single
• TGA – IVS
• No murmur or systolic ejection murmur I-II/VI at ULSB
• TGA – VSD
• Pansystolic murmur at LLSB
• TGA – VSD and PS
• Systolic ejection murmur at ULSB with inverse relationship intensity to the
degree of PS
ECG
Transposition of the great arteries

Ferguson et al. RadioGraphics

2007;27:1323–34
 Echocardiography
Parasternal long axis view

RV

LV

PA arises from LV and AO arises from RV

 Parasternal short-axis view

AO to be anterior and to the right of the PA

 Tricuspid atresia

• Congenital absence or agenesis of

the tricuspid valve
• no direct communication
between the right atrium and
right ventricle
• Incidence: 0.06 per 1000 live births
• Prevalence: in clinical series of
congenital heart disease is 1 – 2.4%
Tricuspid atresia
• Absent communication from RA to RV
• Obligate R to L shunt at atrial level
• Great arteries normally related (70%)
• Great arteries transposed (30%)
• Pulmonary valve may be normal, stenotic
or atretic
• Degree of cyanosis proportional to degree
of pulmonary stenosis
Classification

Most frequent
Auscultation
• First heart sound is single
• Second usually single
• TA with normally related great arteries, prominent systolic murmur
originates at the site of restrictive VSD – holosystolic, maximal at the
lower left sternal border
ECG
QRS axis: Left axis deviation or superior
Echocardiography
Truncus arteriosus
• Aorta, pulmonary arteries, and
coronary arteries arise from single
vessel
• Truncus sits over large ventricular
septal defect
• Failure of septation of embryonic
truncus
• Uncommon (1.4% of CHD)
 Total anomalous pulmonary venous drainage
(TAPVD)

supracardiac cardiac infracardiac

Supracardiac: Cardiac: Infracardiac:

Ascending vertical vein RA or coronary sinus Descending vein to
most common portal system
Clinical manifestation of TAPVD

Obstructed Unobstructed

• Severe pulmonary edema, • Mild to moderate congestive heart

cyanosis, shock failure and cyanosis
• Surgical emergency • Surgery in first 6 months
Supracardiac TAPVD - CXR

“Snowman” appearance
secondary to dilated vertical
vein, innominate vein and
right superior vena cava
draining all the pulmonary
venous blood
Total anomaly
pulmonary
venous
drainage

Ferguson et al. RadioGraphics

2007;27:1323–34
TAPVD - Infracardiac

Lungs heart

Descending vertical vein

Liver
TAPVD - CXR
Infracardiac = Obstructed = Surgical Emergency
Pulmonary atresia

• Atretic
pulmonary valve
• Pulmonary
arteries often
normal in size
• Hypoplastic RV,
RVH, TV
Pulmonary atresia

• Ductal-dependent lesion
• Requires PGE1 to maintain oxygenation
• Therapy directed at opening atretic valve in cath lab or surgery
• Prognosis depends upon size and compliance of hypoplastic RV
Ebstein’s malformation of tricuspid valve

• TV leaflets attach to RV wall,

rather than TV annulus
• Tethered leaflets create 2
chambers w/in RV: large
“atrialized” RV, small
noncompliant functional RV
• Severe tricuspid regurgitation
Ebstein’s malformation of TV

• Massive RA dilation due to severe

tricuspid regurgitation
• R to L shunt at atrial level causes
cyanosis
• Degree of cyanosis related to size
and compliance of functional RV
• Cyanosis usually decreases as PVR
falls shortly after birth
 Ebstein’s anomaly

Ferguson et al. RadioGraphics

2007;27:1323–34
 Conclusion
• The level of hemoglobin greatly influences the occurrence of cyanosis
• Differentiation of pulmonary and cardiac cyanosis is crucial for proper
management
• Chest x-ray and ECG may be helpful in determining cyanotic CHD
• Clinical presentation of cyanotic CHD could be severe hypoxia or congestive
heart failure depending on the magnitude of pulmonary blood flow
• Understanding the hemodynamics of cyanotic CHD is of the most importance
Thank you