The official Journal of Cardiological Society of India, Kerala Chapter

URL: http://keralaheartjournal.in/ojs/index.php/KHJ

Newborn in distress: Subject review

Approach to infants and children with

Cyanotic congenital heart disease
M Zulfikar Ahamed*, Z Sajan Ahmad**, T G Abhilash***
* Professor and HOD, Pediatric Cardiology, Government Medical College, Trivandrum
** Assistant Professor, Department of Cardiology, Pushpagiri Medical College, Thiruvalla
*** Assistant Professor, Department of Cardiology, Travancore Medicity Medical College, Kollam

Address for Correspondence: * Prof. M Zulfikar Ahamed, MBBS, MD, DM. Professor& Head,
Pediatric Cardiology, Government Medical College, Trivandrum. Email: zulfikarahamed@gmail.com

URL: http://keralaheartjournal.in/ojs/index.php/KHJ/article/view/103

Cyanosis is the bluish discoloration of skin and mu- SITUATION SITUATION

cus membranes of tongue, lips, buccal mucosa and con-
junctiva resulting from deoxygenation of capillary blood. Arterial desaturation < 95%
The term cyanosis has origin from a Greek word ‘Kauno- Hypoxemia < 90%
sis’ meaning blueness. Perhaps the first description of a Clinical cyanosis < 85%
cyanotic heart disease comes from an ancient Egyptian
papyrus, 3000 years old which describes a sick child who Central cyanosis in a heart disease is due to a right
died – “His lips are ruddy”. Cyanosis can be central or to left shunting either intracardiac or extra cardiac. To
peripheral. In central cyanosis there is definite blue col- put it in a different way, congenital cyanotic heart diseas-
or of tongue and oral mucosa along with skin coloration. es are anomalies in which some systemic venous return
Tongue is perhaps the best indicator of cyanosis as it is will inevitably reach the systemic circulation without
rich in vascular supply and is less likely to be pigmented. passing through lung.
Acrocyanosis, seen most often in neonates, is an evanes-
There are however many potential pitfalls in clinical rec-
cent blueness which lasts for a few hours. Any cyanosis
ognition of congenital cyanotic heart disease.
lasting for more than 6-8 hours in a neonate is almost al-
ways abnormal. Shock sometimes can cause cyanosis due v As discussed earlier, clinical assessment of cyanosis
to venous stasis. can be inaccurate depending on hemoglobin status.
Recognizable cyanosis is due to a reduced Hb con- v Congenital cyanotic heart disease with increased pul-
tent of more than 4-6 gm/dl in capillary blood. It can occur monary blood flow due to admixture physiology can
also due to high (> 1.5 gm/dl) content of methemoglobin or have saturations varying from 85% to 90% so that
very rarely high (>0.5 gm/dl) content of sulfhemoglobin. there is no clinically evident cyanosis.
Recognizable cyanosis depends on hemoglobin value also. v Some acyanotic congenital heart disease (CHD), es-
With a normal or high Hb content, desaturation will pro- pecially large left to right shunts can develop severe
duce a significant amount of reduced Hb to cause cyano- chest infection and CHF and cause central cyanosis.
sis, while in severely anemic infant, even in the presence
v Primary lung conditions sometimes can mimic cyanot-
of desaturation, reduced Hb will not reach the value to
ic heart disease.
cause clinical cyanosis.
These caveats may be remembered when one evalu-
Recognizing central cyanosis is an infant, especially
ates an infant or a child with suspected cyanotic CHD.
a neonate is quite tricky. Ambient light, wall paint, skin
color and examiner’s experience are some of the factors Cyanosis in a cyanotic CHD is often uniform and
determining accurate detection of cyanosis. In a fair constant. Occasionally differential cyanosis can occur – It
skinned child a saturation below 85% is required to pro- occurs when upper limbs are pink and lower limbs are
duce clinical cyanosis. If any baby is really blue its satu- blue or alternatively upper limbs blue and lower limbs
ration will be usually around 70 - 75 %. pink. Clinical differential cyanosis requires at least a dif-
ference of 10% saturation between upper limbs and lower

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31 The official Journal of Cardiological Society of India, Kerala Chapter

limbs. Even though an interesting term, it is quite rare may be subject to misinterpretation in the presence of
clinically. 1. Coarctation which is proximal to Left subclavian
Differential cyanosis artery

Upper limbs pink: Lower limbs blue 2. Aberrant Right subclavian artery
3. TGA with Coarctation and PDA.
Occurs in PDA with Eisenmenger syndrome
It is also likely to be affected in severe lung pathol-
PPHN (Persistent Pulmonary Hypertension ogy where pulmonary vascular resistance is very high
in Neonate) which, in the presence of PDA can cause right to left
Critical Coarctation shunting and altered ABG in femoral artery sample.
Hypoplastic Left Heart Syndrome (HLHS)
HYPOXEMIC BABY
Interrupted Aortic Arch Syndrome (IAAS) [Sao2 < 90%]

Reversed Differential Cyanosis

Upper limbs blue; Lower limbs pink Oxygen by mask 100%
10 mts
Occurs in Transposition of Great Vessels (d TGA) with
large PDA and PAH with / without Coarctation.

Note: PDA Eisenmenger need not have differen- ABG

tial cyanosis if it has
Associated ASD or VSD. PO2 > 200 PO2 > 150 PO2 > 150
A. Congenital Cyanotic Heart Disease In Newborn
In a newborn with central cyanosis 70% will have
Non Cardiac Less likely Cardiac? Cardiac
congenital heart disease which are usually complex and
30% will have respiratory cause. Methemoglobinemia, Pitfalls can occur in hyperoxia test. It is more likely
though rare, can cause central cyanosis, but the baby has if one uses pulse Oximetry instead of ABG, as good sat-
no distress. It can be due to drug intake or Hb M disease. uration in a neonate can occur with much lower PO2 and
hence assessment of saturation alone is not advocated.
Clinical Condition P O2 SaO2 In severe HMD (Hyaline Membrane Disease) or PPHN,
Met Hemoglobinemia Normal Low PO2 may not reach 200 mmHg and may be thought of as a
Cyanotic CHD Low Low congenital cyanotic heart disease.
In TAPVC (Total Anomalous pulmonary venous
Central Cyanosis: Respiratory or Cardiac? drainage) 100% oxygen will reduce PVR and hence in-
Cardiac Respiratory crease tremendously, pulmonary blood flow thereby in-
Respiratory Rate 40-60 / mt Usually > 80/mt creasing both PO2 and saturation significantly and one
might even exclude a potentially lethal but correctable
Respiratory distress Absent often Present always
CHD.
Grunting / Flaring Absent Present
Once a potential congenital cyanotic heart disease is
Intensity of Cyanosis Deep Less Intense diagnosed baby should be referred for cardiac evaluation
Response to 100% Limited / No Good including echocardiography for final diagnosis.
oxygen
However certain clinical situations warrant emer-
Depth of breathing Deep Less deep gency echocardiography.
Pulses Could be Normal v PO2 in ABG < 50%
abnormal
Circulation Could be poor Mostly normal v Differential cyanosis
Murmur More likely Less likely v Murmur with cyanosis
v Cyanosis with no respiratory distress
Hyperoxia test, introduced by Jones in 1976 contin-
ues to be a very useful clinical screening test to differen- CYANOTIC NEONATE AND ABG
tiate between a cardiac cause and respiratory cause for PH PCO2 PO2 Response to Respiratory
cyanosis, particularly in a neonate where the clinical dif- Oxygen
ferentiation can be very difficult. The baby is given 100%
-↓ - ↓↓ -No- CCHD. ↓ PBF
oxygen by mask for 10 minutes following a right radial ar-
tery sample for ABG - both PO2 and SaO2. A repeat ABG -↓ - ↓ + CCHD. ↑ PBF
is done after oxygen. If PO2 rises above 200 mm Hg it is
(Admixture)
very unlikely to be cardiac and if PO2 fails to rise beyond ↓↓ ↑- ↓ -↑ Systemic
150 mmHg it is likely to be cardiac in origin. Between Hypoperfusion
150-200 mmHg, it is still less likely to be cardiac in cause. ↓ ↑↑ ↓ ↑ Alveolar
Right radial artery is preferred as it is the most proximal hypoventilation
peripheral artery and unlikely to be influenced by pres- -↓ ↑ ↓ ↑
Parenchymal
ence of Coarctation, PDA etc. Other arterial sampling lung condition

Kerala Heart Journal Volume - 5 Issue - 2

 The official Journal of Cardiological Society of India, Kerala Chapter 32
Significant cyanosis
ALGORITHM FOR CYANOTIC NEWBORN
No CHF
No Cardiomegaly
? Respiratory? Cardiac? PPHN Quiet precordium
Single S2 (Second sound)
Hyperoxia Test An outflow murmur of varying intensity

Precordium will be devoid of left parasternal heave

or hyperkinetic impulses, JVP is usually not elevated and
usually a single murmur is heard. Radiology of such chil-
dren will reveal normal cardiothoracic ratio, pulmonary
PO2 PO2 >200
< 150 oligemia, small sized pulmonary arteries and sometimes
right sided aortic arch. Electrocardiography will be vari-
Cardiac PPHN Respiratory able and is of greater use in differentiating between indi-
vidual CHD among this group.
Hyper ventilation The common lesions in this group are
Hyperoxia
1. Tetralogy of Fallot (TOF)
2. Pulmonary Atresia with VSD
3. Tricuspid Atresia *
PO2 PO2 does not
Improves Improves
4. DORV. VSD. PS
5. L - TGA. VSD. PS. (Corrected TGA)
6. D - TGA. VSD. PS
PPHN Cardiac
7. AV Septal Defect with PS.
B. Congenital Cyanotic Heart Disease In Infancy 8. Single Ventricle with PS.
And Childhood 9. Truncus Arteriosus with PS.
Majority of infants and children present with histo- Almost all of them share features like central cyanosis,
ry of cyanosis - on crying or at rest. A few infants present absent CHF, normal or near normal cardiac size, single
for the first time with cyanotic spells. Occasional child S2 and an outflow murmur. Some may have some devia-
will present with a cerebrovascular accident or brain ab- tion from the set pattern, which may help in reaching a
scess. more specific diagnosis.
Cyanotic children may be classified into those who
have decreased pulmonary blood flow (↓ PBF) or those Pulmonary Atresia with VSD
with increased pulmonary blood flow (PBF.) This is pri- There is no outflow murmur. Instead children will
marily answered by history, physical examination and have a high volume pulse, a murmur of either PDA or
ultimately by chest x-ray. Major Aorto pulmonary collateral arteries (MAPCA) or
CCHD with reduced PBF can be divided into two occasionally an ejection click due to dilated aorta.
major groups. Tricuspid Atresia
1. With pulmonic stenosis It is not a true TOF physiology as it often has a re-
2. With pulmonary hypertension strictive VSD. It will have a very early presentation with
Both effectively reducing blood flow across lungs deep cyanosis, absent right ventricular impulses, prom-
and causing central cyanosis. There is a right to left shunt inent ‘a’ wave in JVP and sometimes a left ventricular
at some level, Intracardiac. apical impulse.
Pulmonic stenosis most often occurs in association DORV. VSD. PS
with VSD (ventricular septal defect). Majority of CCHD Clinically indistinguishable from TOF.
with reduced PBF have an interventricular communi-
cation and some degree of PS. TOF (Tetralogy of Fallot) L-TGA.VSD.PS.
is the prototype of this group. In some, PS is associated More often associated with dextrocardia; shares
with intact IVS (inter ventricular septum) and right to all the clinical features of TOF but for a very loud single
left shunt occurs through a small ASD or PFO (Patent S2 at pulmonary area due to an L-posed anterior aorta.
Foramen Ovale). There could be an apical murmur- MR like, due to Left
AV valve (Tricuspid) regurgitation.
Group I (CCHD; ↓ PS; VSD)
This group will have history of progressive central D-TGA. VSD. PS
cyanosis from infancy, reasonably deep cyanosis, history Will have intense, early onset cyanosis – from new-
of spells in infancy and squatting in childhood. They do born days onwards and outflow murmur. There could be
not have recurring chest infections and do not exhibit mild cardiomegaly.
features of CHF (Congestive heart failure). The physical
AV Septal defect with PS
findings include;
Can have an LV impulse, an apical murmur due to

Kerala Heart Journal Volume - 5 Issue - 2

33 The official Journal of Cardiological Society of India, Kerala Chapter

Left AV valve regurgitation (Mitral) in addition to RVOT ECG in Group II

murmur. ECG will show severe RVH with strain pattern.
Single Ventricle with PS This is in contrast to TOF situation where there is no RV
strain pattern as RV is used to systemic pressures from
Will be almost be like TOF; there could be an LV
outset. RV pressure in this group can be suprasystemic
apical impulse, mild cardiomegaly and a long systolic
causing a qR in V1 or V3 R.
murmur in spite of significant cyanosis.
ECG Findings
Chest X-ray in group I
Both TOF and PA with VSD will have right aortic NSR. RAD
arch in 25-30% of cases, Tricuspid atresia will have no up- RVH. qR in V1 / V3 R
turned apex but will have prominent right atrium. L-TGA RV strain – ST – T changes in V1-V6
will have an L-posed Aorta forming upper part of cardiac
border. D-TGA will have prominent RA enlargement and
Group III
narrow pedicle.
CCHD; increased PBF with PAH
ECG in Group I
Just as PS causes impedance to right ventricular
Include RAD. RVH with out strain. TOF will have
blood flow to lungs, severe PAH due to Pulmonary Vas-
early transition in precordial leads. RAE is not a feature
cular Occlusive Disease (PVOD) will cause considerable
in this group. The individual lesions will have certain
impedance to blood flow to lungs causing reduced pulmo-
characteristic ECG abnormalities.
nary flow. A communication between chambers at any
CCHD; PBF; VSD with PS - ECG Findings level will set up a right to left shunt causing central cy-
anosis. The classical condition, Eisenmenger syndrome,
P Wave PR QRS RVH LVH BVH which is defined as a condition in which a left to right
Interval Axis shunt develops severe PVOD so that bidirectional or right
TOF N N RAD ++ - - to left shunt occur causing central cyanosis.
PA/VSD N N RAD ++ - - Eisenmenger reaction can occur in ASD, VSD, PDA,
TA RAE N LAD 0 ++ AVSD and AP window. Except ASD all Eisenmenger
DORV N Prolonged RAD- conditions behave similarly clinically. They will start as
-
extreme ++ + significant left to right shunt in infancy and develop cy-
L-TGA N Prolonged LAD ++ - - anosis in the 2nd or 3rd decade, will have mild - moder-
D-TGA RAE N LAD - - ate cyanosis, minimal or no cardiomegaly, no CHF and
++
clinical findings of severe PAH which include parasternal
AVSD RAE Prolonged LAD + - +
heave, palpable P2, load and single S2, ejection murmur
SV N N LAD? + - + and early diastolic murmur from pulmonary area and no
Truncus N N RAD + - + murmur from shunt lesion.

Group II Late onset cyanosis

Severe PS; Intact IVS (Inter ventricular septum) → JVP normal or ‘a’ wave
Severe valvar PS in the long run can progress and No CHF / Cardiomegaly
cause raised filling pressures in right ventricle, which is Left Parasternal heave
transmitted to right atrium. If there is a PFO or ASD, Palpable and loud P2. Ejection click at PA.
right to left shunt occurs through it and causes central cy- No shunt murmur (S)
anosis later Right ventricle dilates and develops dysfunc- Ejection murmur / Early diastolic murmur of PR
tion causing considerable cardiac enlargement. The clin-
ical presentation is unique among CCHD with decreased
ASD will have slightly differing clinical presentation –
PBF.
prominent JVP, cardiomegaly, hyperdynamic precordium
and in a majority, split S2 with loud P2.
Central Cyanosis
Elevated JVP with prominent a wave and v waves Chest X-ray in group III
Cardiomegaly. There will be no cardiomegaly (except in ASD). Sig-
Hyperdynamic precordium nificant dilation of PA s, and oligemia with peripheral
Significant parasternal heave pruning of lung vessels are characteristic..
Single S2 / wide split with delayed soft P2 ECG in Group III
S3 (RV) ECG in all conditions will show right axis deviation,
Murmurs due to tricuspid regurgitation (TR) and PS. right ventricular hypertrophy without strain pattern. qR
TR murmur may be more prominent in V1 or V3 is unlikely as RV pressure seldom crosses
systemic levels.
Chest X-ray in group II
Cyanotic heart disease with increased pulmonary flow
Chest X ray will significant cardiomegaly, RV apex, will have a characteristic combination of mild cyanosis
RAE, post stenotic dilatation of PA and pulmonary oli- and severe CHF. This group is again divided into 2 sub
gemia. groups.

Kerala Heart Journal Volume - 5 Issue - 2

 The official Journal of Cardiological Society of India, Kerala Chapter 34
Group IV: CCHD. Increased PBF: Parallel circula- reveal cardiomegaly, pulmonary oligemia and right atri-
tion al enlargement. PAVF is a curious clinical entity which
Transposition of great arteries (TGA) is the unique presents as cyanotic infant or child with minimal or no
CHD belonging to this group. It will present with severe cardiac findings. CXR and ECG are most often normal.
cyanosis and mild CHF - especially TGA with intact IVS. Echocardiographic anatomy of heart is also normal. A
Clinical findings will be intense early cyanosis, mild car- contrast echocardiography and later a pulmonary angiog-
diomegaly, mild CHF and minimal or no murmur. Mur- raphy are needed to clinch the diagnosis.
mur in this group will be due to associated PS, small VSD TOF like clinical picture with
or PDA. Chest X-ray will show mild-moderate cardio-
megaly, right atrial enlargement, RV contour, increased A High volume pulse : TOF with PDA / collaterals
pulmonary vascular with narrow base. PA with VSD with MAPCA
ECG will show monotonous findings, right ventricu- Truncus arteriosus with PS
lar hypertrophy with RAD. TOF with BT shunt
D-TGA with large VSD will behave with more CHF, TOF with AR.
severe PAH and less intense cyanosis. Similar clinical B. Prominent JVP : Tricuspid Atresia
picture can occur in DORV. Sub pulmonic VSD and PAH AVSD with PS
(Taussig - Bing anomaly). TOF with prolapsed TV into
Group V: CCHD. Increased PBF: Admixture VSD
If there is a complete mixing of systemic and pul- C. Left ventricular apex : Tricuspid Atresia
monary venous return due to a common mixing chamber, Single ventricle, Truncus Ar-
admixture lesions result. Single atrium, single ventricle teriosus (+)
and Truncus arteriosus are the classical lesions. Total D. Apical murmur : L-TGA, VSD, PS.
anomalous pulmonary venous connection (TAPVC) and AVSD with PS with MR.
DORV. VSD. PAH also belong to this group.
Single ventricle + HLHS -
Presentation include Obstr. TAPVC
CHF in infancy CONGENITAL CYANOTIC HEART DISEASE
Mild cyanosis. CXR / ECG correlation
Cardiomegaly with hyperdynamic heart
1. CCHD. ↓ PBF: PAH; RAD. RVH
Evidence of PAH Eisenmenger syndrome
Abundant murmurs - systolic and diastolic TGA with PVOD
Growth failure. TAPVC with PVOD
Taussig - Bing Anomaly
Clinically they will behave similar to a large Left to right
2. CCHD; ↓ PBF; PAH; LAD; RVH
shunt with mild cyanosis.
AVSD with PVOD
ASD Like Presentation; Single Atrium with PVOD
CHF; Cyanosis - TAPVC. Single Atrium DORV. VSD. PAH / PVOD
(Sub aortic)
VSD like presentation:
CHF; cyanosis - Single ventricle. DORV 3. CCHD; ↓ PBF; PAH: LV Dominance
Truncus with PVOD
PDA like presentation: Single ventricle of LV type
CHF; Cyanosis - Truncus 4. CCHD; ↓ PBF; PS; RAD; RVH
TOF
X ray: All these lesions will cause cardiomegaly and
PA with VSD
plethora of lung fields. TAPVC and single Atrium (pre tri-
PS with IVS
cuspid lesions) will have significant right atrial enlarge-
PA with IVS
ment. Post tricuspid lesions - Single ventricle, DORV and
TGA. VSD. PS
Truncus will have LA enlargement or bi atrial enlarge-
(Sub pulm ) DORV. VSD. PS.
ment. Truncus will have a right sided aortic arch in 40-
50% of cases. 5. CCD; ↓ PBF; PS; LAD: RVH
DORV. (Sub aortic) PS
ECG in pre tricuspid admixture lesions will have right
axis deviation, right ventricular hypertrophy and fre- AVSD with PS
quently RSR pattern in V1 or V3R. In post tricuspid le- 6. CCHD; ↓ PBF; PS: LV Dominance
sions RAD, BVH are common. Tricuspid Atresia
Some congenital heart diseases defy categorization PA with intact IVS. Hypoplastic RV.
in to any of the above groups. They include Ebstein anom- Single ventricle PS (LV)
aly, pulmonary AV fistula (PAVF). Ebstein anomaly will TOF with Hypoplastic RV
have early cyanosis, cardiomegaly, prominent JVP, split 7. CCD; ↑ PBF; RAD: RVH
S1 and S2, S3 and S4 and murmurs. In ECG, Ebstein TGA
will show RAD, VSR or splintered QRS in V1-V2, occa- DORV. VSD. PAH
sionally WPW syndrome. RVH is an exception. CXR will TAPVC

Kerala Heart Journal Volume - 5 Issue - 2

35 The official Journal of Cardiological Society of India, Kerala Chapter

8. CCHD; ↑ PBF; LVD Dominance M. Zulfikar Ahamed Pediatric Cardiology Division,

Single Ventricle. PAH Trivandrum, Kerala.
Truncus 5. D.F. Duff, D.G. McNamara. History and physical
9. CCHD; ↑ PBF; LVD: RVH Examination of the Cardiovascular System
Single Atrium In The Science and Practice of Pediatric Cardiology
AVSD with PAH 2nd / Edn. Ed. A Garson, JT Bricker, DJ Fisher, SR
10. CCHD: Normal ECG Nesh William and Wilkins, 1997.
PAVF 6. R. Tandon Bed side Approach to in the diagnosis,
Unroofed Coronary Sinus. congenital Heart Disease. B.I Churchill Livingston
Lt. SVC to LA Straddling SVC with sinus venous Pvt. Ltd. 1998.
ASD. 7. AF Rossi Cardiac diagnostic Evaluation PP 37. In
Suggested Reading Pediatric Cardiac Intensive Care
1. RM Freedom, LN Benson, JF Smallhorn. Neonatal Ed: AC Chang, FL Hanley, A Wernovisky, DL Wes-
Heart Disease 1992. Springer – Verlag New York. sel.
2. RD Rowe, RM Freedom, A Mehrizi. The Neonate 8. M. Tynan Clinical Presentation of Heart Disease
with Congenital Heart Disease 1981. W.B. Saunders in Infant and Children. in Pediatric Cardiology pp.
- Philadelphia pp. 137-165. 275 Ed: RH Anderson, FJ Macorhney, EJ Baker, M
Tynan, ML Risby,
3. WF Friedman, N. Silverman. Congenital Heart
Disease in infancy and Childhood in Heart Disease 9. EA Shinebourne Churchill Livingston London 2002.
6th Edn. 2001 pp. 1505-1592. Ed. E Braunwald, DP 10. M. Zulfikar Ahamed Clinical Approach to Infants
Zipes, P. Libby. W.W. Saunders Company, Philadel- and Children with Congenital Heart Disease
phia. In PG Textbook of Pediatrics volume 2 pp 1850 Ed;
4. JA Tharakan Clinical Approach to children with Cy- Piyush Gupta, PSN Menon, S Ramji, R Lodha Jay-
anotic Heart Disease in Progress in Pediatric Cardi- pee Brothers New Delhi 2015.
ology Vol. 1 No.2, 200 Congenital Heart Disease Ed

Please cite this article as: Zulfikar A, et al., Approach to infants and children with Cyanotic Congenital Heart Disease.
Kerala Heart J 2015; 5 (2):30-35.

Kerala Heart Journal Volume - 5 Issue - 2