approach to congenital cyanotic heart diseases

CHD Approach

1. Approach to a patient with
Congenital Cyanotic Heart Disease
-
Speakers:Dr. DebasisMaity
Dr.Md.SamimShikari
ChittaranjanSishuSadan,Kolkata

2. Nightmare:
•It’s 2A.M
•Posted in NICU
•Your 1st night therein
•You get a callbookfrom C.S OT
•You rush to the spot
•See a just delivered “Blue Baby”.
•Take all reversible measures to resuscitate
•Excluded all causes ,remaining only cardiac causes left
•Baby dies
•Postmortem done to find out the cause
•And yes you were right ,it was a case of TGA with Intact
septum.

3. Congenital Heart Disease
•Prevalence
•0.8% of live births
•3-4% of stillborns, 10-25% of spontaneous
abortuses
•2% of premature infants (Excluding PDA)
•Leading cause of death among children with
congenital malformations

4. Cyanotic Heart Disease
•Patient appears blue (cyanotic), due to
deoxygenatedbloodbypassing thelungsand
entering the systemic circulation.
•Can be caused byright-to-
leftorbidirectionalshunting, or malposition
of thegreat arteries.

5. Acyanoticor Cyanotic
•Normal saturations are 95%
•Visual diagnosis below 85%
•Pulse oximetry useful in cases with SpO
2
between 85% and 94%
•Important to measure pre and post ductal
saturations and po2

6. Common Cyanotic Lesions
Decreased Pulmonary Blood
Flow
Increased Pulmonary Blood
Flow
Tetralogyof Fallot
TricuspidAtresia
Pulmonary Atresiawith intact
Septum
Double Outlet Right Ventricle with
PS
TGA with PS
EbsteinAnomaly
Transpositionof the Great Arteries
TotalAnomalous Pulmonary
Venous Return
HypoplasticLeft Heart Syndrome
Persistent TruncusArteriosus

7. 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

8. 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 OramSyndrome

9. Physical Examination
•General appearance, weight and nutrition
•Association with chromosomal syndromesand
other systemic malformations
•Colour
•Vital Signs
–Pulse, BP, respiration and temperature

10. Associations
Syndrome Associations
Trisomy21 (Down syndrome) Endocardialcushion defect, VSD, ASD
X0(Turner Syndrome) Bicuspid Aortic Valve, Coarctationof Aorta
Trisomy18, Trisomy13 VSD, ASD, PDA, coarctationof aorta,
bicuspid aortic or pulmonary valve
Fragile X Mitral valve prolapse, aortic root
dilatation
Deletion5p (cri du chat syndrome)VSD, PDA, ASD
CHARGE association
(coloboma,heart,atresia
choanae,retardation,genital, andear
anomalies)
VSD, ASD, PDA, TOF, endocardialcushion
defect

11. Associations
Syndrome Associations
DiGeorgesequence, CATCH 22 (cardiac
defects,abnormal facies,thymic
aplasia,cleft palate, andhypocalcemia)
Aortic arch anomalies, conotruncal
anomalies
Aspleniasyndrome Complex cyanotic heart lesions with
decreased PBF, TGA, TAPVR
Polyspleniasyndrome Acyanoticlesions with increased PBF,
PAPVR, dextrocardia, single ventricle
Congenital rubella PDA, peripheral pulmonicstenosis
Fetalhydantoinsyndrome VSD, PDA, ASD
Fetal AlcoholSyndrome ASD, VSD
Maternal Diabetes Hypertrophic Cardiomyopathy, VSD, TGA

12. Cyanosis
•Cyanosis: Bluish discoloration of skin and mucous
membrane due to reduced Hbconcnmore than
5gm/1ooml in cutaneousveins
•Central Cyanosis
–Right to left shunts
–Respiratory or CNS Pathology
•Peripheral Cyanosis -Exposure to cold,
congestive heart failure, polycythemia, shock

13. •Differential Cyanosis-Hands RED ,feet BLUE-as
in PDA
•Reverse differential cyanosis-Hands BLUE,feet
RED-as in Transposition of the great vessels (TGA) +
PDA + Pulmonary hypertension
•Intermittent Cyanosis-Ebstain’sanomalies.
•Cyanosis is recognized at higher level of
spo2(80-85%)in polycythemiaand at a lower
level of spo2(45-50%) in severe anaemia.

14. Causes of cyanosis
CNS Depression Irregularrespiration, poor muscle tone
Improves with stimulation or mechanical
ventilation
Pulmonary DiseaseTachypnea,respiratory distress
Crepitations, decreased breath sounds,
CXR findings, Improvement with O
2
Cardiacdisease Tachypnea withoutretractions
Lack of respiratory findings
Little or no improvement with O
2
CXR abnormal cardiac silhouette

15. 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

16. Systemic Examination
system wise but mainly-
•First and second heart sounds
•Loud or muffled heart sounds
•Splitting
MURMUR
•Location
•Timing
Signs of congestive cardiac failure(eg-hepatomegalyetc)
Presence of murmur not necessarily pathological BUT Absence of
murmur does not rule out cardiac lesions

17. Chest Radiography
•Cardiac size(CTRto be measured) and
silhouette
•Cardiac chambers and great vessels
•Pulmonary vascular markings
•Differentiate with pulmonary disease

18. Normal Cardiac Silhouette

19. HyperoxiaTest
Appreciable specificity, sensitivity when
matched clinically.
•Measurements to be obtained by TCOM or by
arterial po2.
•If arterial Po2>250 torr:PASSED:excludes
critical structural heart disease.
•<100:FAILED: diagnostic of cyanotic heart
disease(in absence of obvious lung disease)
•100-250: may be intracardiacmixing….

20. •We can also check preductal(rtradial art) and
post ductal(umbilical art/post.tibialartery)
arterial difference in po2.Difference of more
than 20 torris to be taken as
significant.(remember differential
cyanosis/reverse differential cyanosis)

21. Arterial Blood Gas
•Confirm or reject cyanosis
•Elevated pCO
2suggests respiratory pathology
•Low pH in sepsis, shock or severe hypoxemia
•Pre and post ductal (umbilical artery or lower
limb) useful to confirm differential saturations

22. Echocardiogram
•Definitive diagnositicmodality for structural
heart disease
•M-mode, 2D Echo and Doppler
•Windows commonly used –Apical 4 Chamber,
Parasternallong and short axis, Suprasternal,
Subclavicularand Subcostal

23. CHD –Age of Presentation

24. Common Congenital Cyanotic Heart
Diseases

25. Case scenario 01:
•A 2yr old boy presented with episodes of
becoming blue mostly in the morning.
•O/E-central cyanosis,clubbing.
•No pallor,oedemaor respiratory distress.
•CVS-heart was of normal size,parasternalheave
+ve, systolic thrill palpable over lt.middlesternal
border.S1-Normal,S2-only A2 is audible.
•Liver –not enlarged.
•CXR given below.
•ECG-Rtaxis deviation. Dignosis????????

26. Xraychest

27. TetralogyOf Fallot
•High VSD
–Large enough to equalize
pressure
•Pulmonicstenosis
–Usually infundibular,
sometimes valvular
•Overriding of the aorta
•Right ventricular
hypertrophy

28. TOF –Other Anomalies
•Right aortic arch –25%
•Pulmonary atresia–15 –20%
•Left superior vena cava
•Complete AV septaldefect –2%
•Tricuspid valve anomalies
•Anomalous coronary arteries –Ant descending
artery from RCA; passes across RVOT –5%
•Anomalies of Pulmonary Artery and branches

29. TOF –Critical component
Degree of pulmonary stenosis
–Determines degree of R L shunt(proportional
relation)
–Determines duration and grade of murmur(inverse
relation)

30. TOF -Clinical Features
•Dyspnea/Dyspneaon exersion
•Cyanosis with tachypneaand clubbing
•Failure to thrive
•Severity of PS determines age of presentation
•Cyanotic spells /“tetspells”.

31. TOF -Investigations
•ECG
–Right axis deviation and
RVH
•CXR
–Decreased pulmonary
vasculature
–Concave PA segment
–Right aortic arch, right
atrial enlargement

32. Echocardiography
Parasternallong axis view Parasternalshort axis view

33. TOF –Cyanotic spells
•Hyperpneaand cyanosis, progressing to
limpness and syncope, might terminate in
convulsions or even CVA
•Right ventricular infundibularspasm and
decreased systemic vascular resistance
–Increased catecholamines
–Increased respiratory rate

34. Cyanotic spells -Pathophysiology

35. •The highly accepted theory justifying
pathophysiologyof TOF with cyanotic spells:
•kothariet al: suggests role of
mechanoreceptors in right ventricular
infundibulum(spasm of RVOT) due to
increased catecholamine,decreasedRV size
and hyperpnoea which ultimately precipitates
a tetspell.
•Associated reduction in SVR is also postulated.

36. Cyanotic spells –Treatment
•Always check ABC,vitalsas and when
necessary.
•A) Knee chest position-To increase systemic
vascular resistance
•B) Oxygen-Oxygen to improve oxygenation.
•C) Morphine-Depresses respiratory center→
abolish hyperpnoea. While giving this,
facilities for ventilation should be
available.dose-0.2mg/kg sc/im

37. •E) Propanolol-0.01-0.25 mg/kg intravenously
over 5 min. Reduces dynamic RV outflow
obstruction.
•Slows HR (↓ R→ L Shunting). Slight ↑ in SVR.
Blocks hyperpnearesponse.
•F) Ketamine-1-3mg/kg. IV over 1min→ has dual
benefit causes sedation and ↑ SVR
•G) PhenylephrineHydrochloride-0.01 mg/kg IV
(slowly) or 0.1 mg/kg SC or IM (↑ SVR –dose to
be titrated to BP response).

38. •H) Methoxamine-0.10mg/kg IV over 5-10
min. Leads to ↑ SVR.
•I) IV fluids-preferably initially as bolus of 10-
20cc/kg which may be increased to 60cc/kg.
Bolus fluid should be isotonic saline or colloid.
Extra volume can be given in cyanotic spell as
the physiology is not inductive to CCF and also
because of a restrictive RV physiology.

39. •J) InjNaHCO3-(1-2 meq/kg intravenously slowly)
with 1:1 dilution with 5%D. To correct metabolic
acidosis.
•K) Transfuse PRBC’s-5-10 ml / kg IV over 5 hrs.
•L) Correct Tachyarrhythmia-Improve diastolic
filling and cardiac output.
•M) RSI and mechanical ventillationas and when
necessary.Somepeople recommend availability
of atleasttemporary pacing faciltybefore
instituting beta blockers.

40. TOF –Surgical Management
•Complete surgical repair
–As early as 3 –4 months of age
•Palliative surgery
–TOF with pulmonary atresia/hypoplasticPA
–Unfavourablecoronary artery anatomy
–Young infants with severe cyanotic spells

41. Palliative surgeries in TOF
•Waterston’s shunt: between ascending aorta
& right pulmonary artery.
•Blalock-Taussigshunt: between subclavian
artery & pulmonary artery.
•Pott’sshunt: descending aorta and left
pulmonary artery.

42. Surgery -TOF

43. CASE SCENARIO 02:
•A 2month old INFANT OF DIABETIC MOTHER(full
term delivery) presented to ER with marked
respiratory distress.o/e –central cyanosis+,b/l-
creps,HR-180/min,RR-58/min,Liverpalpable-
5.5cm.H/O-repeated episodes of
cough,resp.distress,feversince birth.CVS-gr3 ESM @
lt.parasternalarea,CXR-cardiomegalywith narrow
base and plethoric lung fields.Alsothere is a H/O
exacerbation of cyanosis during cry.Diagnosis??????

44. CXR of that infant

45. Dignosed:
•TGA with VSD in Cngestivefailure

46. Transposition of Great Vessels
•Aorta arises from right
ventricle, pulmonary
artery from left
ventricle(d-TGA)
•Systemic and
pulmonary circulations
exist as parallel
circulations
•PDA and PFO enable
survival; 30 -40% have
VSD

47. Transposition of Great Vessels
•Also known as D-TGA
•Normal relation –Aorta
posterior and to the right
of pulmonary artery
•In TGA aorta is anterior
•Presents with cyanosis
and tachypnea within first
few hours or days of life
•Severity inversely
proportional to presence
of shunts

48. TGA -Variants
•TGA with intact
Interventricularseptum
•TGA with VSD
•TGA with VSD and LVOT
obstruction (Pulmonary
stenosis)

49. TGA -Diagnosis
•ECG usually normal –
Right dominant
•CXR shows mild
cardiomegaly, narrow
mediastinum, and
normal to increased
pulmonary blood flow,rt
upper field shows
maximum plethora.
•Egg on end appearance.

50. TGA -Echo

51. TGA -Treatment
•PGE
1(start with 0.05-0.1mcg/kg/min,oncethe
desired effect is achieved the dose is gradually
reduced to 0.01mics/kg/min)) to maintain PDA
•Rashkindballoon atrial septostomyin severely
hypoxic or acidoticinfants
•Arterial switch procedure (Jatene) performed as
early as first 2 weeks of life
•Rastellioperation another alternative
•Previously, atrial switch operations were done by
creating atrial baffles

52. Case scenario 03:
•A 1month old boy,presentedwith-
•Bluish discoloration of extremiteisand tounge
•h/o-dusky appearance since birth,poor
feeding,rapidrespiration since birth.
•o/e-poor weight gain,LVtype of apical impulse
+ve,prominentlarge “a” wave in JVP, holosystolic
murmur of grade 3/6 at ltlower sternalborder, s1
normal S2 single.Liver-enlarged .
•ECG-LAD+LVH. Dignosis?????

53. Tricuspid Atresia
•Circulation through
Foramen Ovale/ASD
•Associated VSD or PDA
•Presentation depends
on relation between
great arteries and
presence or absence of
PS
•Commonest –Type 1b
(No TGA, small VSD, PS)

54. Tricuspid Atresia-Presentation
•50% present on D1,
80% by 1
st
month
•Infants with
pulmonary oligemia
present early with
cyanosis, hyperpnea,
acidosis
•Infants with
pulmonary plethora
present with CHF
51%
18%

55. Diagnosis
•CXR depends on pulmonary blood flow
•ECG –Right atrialenlargement, left axis
deviation, LVH
•Echo –
–Absence of Tricuspid valve
–Relation of great arteries
–RVOT
–VSD, PDA

56. Management
•Corrective surgery –Fontanprocedure, usually
after 2 years of age
•Palliation –
•BT shunt for oligemia
•Manage CHF in infants with pulmonary plethora
•Consider PA banding if medical measures fail,
remember VSD might close spontaneously in Type 1
•Palliative measures meant to try to attain
normal LV function, adequate PBF at low PA
pressure

57. Case scenario 04
•A 2.5months old MALE infant, presented with mild
cyanosis since birth,
•o/e-Now underweight, mild central Cyanosis.tachypnea
,tachycardia, precordialbulge+ve,hyperactivert
ventricular impulse,cardiacimpulse is highest at
xiphoidprocess and lower ltsternalborder.
•S1-normal,S2-wide split and fixed,P2 accentuated,mid-
diastolic rumble +ntat lower ltsternalborder
•Hepatomegaly+nt
•ECG-RVH pattern(rsR´IN v1)
•Cxr-given below

58. Dignosis?

59. Total Anomalous Pulmonary Venous
Return
•Pulmonary veins drain
anomalously into RA or
systemic venous
tributaries
–Supracardiac–50%
–Cardiac –20%
–Infracardiac-20%

60. TAPVR
•Presentation and
severity depends on
pulmonary venous
obstruction
•ASD or PFO essential for
survival

61. TAPVR -Management
•Treat CHF with diuretics, digitalis
•Correction of metabolic acidosis, pulmonary
edema
•Corrective surgery –earlier in obstructed
TAPVR
•Aim to return blood to LA and close ASD
•Obstructed TAPVR –symptoms exacerbated or
precipitated by PGE
1

62. CHD –Ductusdependent lesions
DuctusDependent Systemic
Circulation
•HypoplasticLeft Heart
Syndrome
•CricticalAS
•“Shone” complex variants
•Coarctationof aorta
•Interrupted Aortic Arch
DuctusDependent Pulmonary
Circulation
•TOF with PA
•Pulmonary Atresiawith intact
interventricularseptum
•Critical PS
•Tricuspid Atresiawith PS/PA
•Single ventricle with PS/PA
•Severe Ebsteinanomaly
•Complete TGA with intact IVS

63. Case scenario 05:
•A 2yr old child presented to OPD with-
•h/o-effort intolerance,easyfatiguability,withnew onset
bluish discolarationof body and toungewhich is gradually
increasing
•Mother has manic depressive psychosis*7yrs.father puts
forward a h/o of rapid heart beats of the child occasionally
which he has noticed.
•Significant history??-One child died after similar type of
presentation and had sudden death.(coincidental?)
•o/e-moderate central cyanosis,dominant“v” wave in
jvp,S1-normal,S2-wide split but variable,TR
murmur(systolic) +nt.
•ECG-RBBB+RAH pattern and has a characteristic clinch

64. Dignosis?

65. Diagnosis?
•EBSTEIN’S anomaly with
•WPW syndrome

66. CHD –Management Summary
Ductusdependent Pulmonary Circulation
•TOF and PA/PS represent central cyanosis
•Cyanosis aggravated with closure of ductus
•Aim to keep ductusopen till palliative shunt
surgery; Eg. BT shunt
•PGE
1infusion indicated

67. DuctusDependent Systemic Circulation
•Signs of poor perfusion, acidosis, mimics sepsis
•Maintain ductuspatency with PGE
1
•Ventilatorystrategies to increase pulmonary
vascular resistance, avoid pulmonary over
circulation
•Ideal systemic:pulmonaryflow 1:1
•Adjust PEEP, insp. Rate, Tidal Volume
•Avoid too much O
2, pO
2around 80%
•Decrease SVR –Phenoxybenzamine, Milrinone

68. Medical Management
•When a congenital cyanotic heart defect or
duct dependent lesion is suspected –
–Start PGE
1infusion (0.05 –0.1 mcg/kg/min)
–Maintenance dose of 0.01 mcg/kg/min
–May cause apnea (12%), fever (10%) and flushing.
–Less commonly brady/tachyarrythmia, shock,
cardiac arrest

69. Antenatal Diagnosis
•Fetal echo –usually done around 18 –24
weeks, as early as 12 weeks
•High risk approach –
–Sibling/Family history of CHD
–Maternal infection, autoimmune, metabolic
conditions, drug intake
–Fetal chromosomal anomaly, arrythmia
–Abnormal 4 Chamber view on USG

70. Fetal Echo
•May be done by
transabdominalor
transvaginalapproach
•4 chamber, 5 chamber
and 3 vessel views

71. Practical Approach to a cyanotic
patient
•Rule out acrocyanosis,cyanosisd/t extracardiac
causes and treat accordingly to revert .
•Crying,freeflow of 100% o2,warming,Rx of
circulatory compromise revert those situations
CYANOSIS
•Conduct HYPEROXIA TESTaccordingly(po2 less
than 100torr)
•Measure pre+postductalpo2 difference ,if
any(significant)
CAYNOYSIS
PERSISTS!!!!!
•Cardiologicalevaluation
•CXR
•ECHOCARDIOGRAPHY
•ECG
Po2<100 torr: FAILED
HYPEROXIA TEST

72. Contd.
•By Echocardiography
•Maintain ductusdependent flow with PGE1 infusion to buy
time for corrective surgeries if compatible with life
RULE OUT
DUCTUS
DEPENDENT FLOW
•By Echocardiography
•Conservative management+correctivecardiac surgeries as
recommended if any + antifailuremeasures if needed
DUCTUS
INDEPENDENT
LESION
•For opinion from cardiologists & cardiothoracic surgeons
•We must not hesitate to call help from others
REFERRAL AS
AND WHEN
NECESSARY

73. A BREIF DISCUSSION

74. Take home messages
•Maintain a high index of suspicion in neonates
and infants with respiratory or feeding
difficulties, and failure to thrive and cyanosis
•Basic investigations that are regularly done give a
good idea about the presence as well as type of
CHD even before an Echo is available
•One should not ignore the role of
ECHOCARDIOGRAPHY because pure clinics may
not be enough to definitely reach at proper
diagnosis.

75. •Early institution of treatment to prevent long
term morbidity and mortality
•Seek opinion from cardiologists and
cardiothoracic surgeons without hesitation
•Maintain nutrition,hydration,prevent
infection,anemia.
•Train and demonstrate “knee-chest” position
to mother/attendentsto abolish cyanotic
spells.

76. Knee chest positions

77. Thank You