Common Cardiac
Diseases
MBBS 3
LEARNING OUTCOME
BY THE END OF THIS LECTURE STUDENTS SHOULD
BE ABLE TO:
1. List a differential diagnosis of cardiac conditions
presenting with a cyanosis/murmur in children
2. Review common CHD encountered in clinical practice
What congenital structural lesions
can you think of?
What congenital structural lesions
can you think of?
Septal defects ‘hole in the heart’- a gap between the 2 atria
(atrioseptal defect) or 2 ventricles (ventriculoseptal defect),
or at the endocardial cushion (where all 4 meet)
Vessel abnormalities eg. transposition of the great arteries,
coarctation of the aorta, pulmonary stenosis, patent ductus
arteriosus
Valve abnormalities eg. tricuspid atresia, aortic stenosis
Major structural abnormalities eg Fallot's tetralogy,
hypoplastic left heart
Failure of transition eg patent ductus arteriosus, persistent
foetal circulation
Which of the following lesions
will produce cyanosis?
Ventriculoseptal defect Tetralogy of Fallot (TOF)
(VSD)
Atrioseptal defect (ASD)
Transposition of the great
arteries (TGA) Critical pulmonary stenosis
Patent Ductus arteriosus Hypoplastic left heart
(PDA)
Coarctation of the aorta
(CoA)
Cyanotic congenital heart
disease
Transposition of the great arteries
Tetralogy of Fallot
Critical pulmonary stenosis
Other complex structural defects
What is meant by “duct-
dependant” heart disease?
Some structural abnormalities of the heart are
incompatible with life outside the womb once the
ductus arteriosus closes.
This event is often delayed compared to normal, but
inevitably the baby will collapse within the first 2-3
weeks of life. Giving oxygen may precipitate/
accelerate duct closure.
◦ transposition of the great arteries (cyanosed from birth)
◦ pre-ductal coarctation of the aorta (not cyanosed)
Evaluation of cyanosis
History: onset, duration, frequency, associated symptoms
SOB, sweating, pallor, fussiness, crying, spells: ppt factor
feeding, bathing..
Prenatal Hx, fetal ultrasound, drugs, toxins, maternal
health, stillbirth
Family Hx; previous child with CHD, sudden death
Physical: sx Resp. Dist. sx shock, Vitals: HR, RR, 4 BP,
pre/post sats.
Chest: rales, wheeze, grunting, murmur, heart failure sx
Investigations: CBC, CXR…..?, 12 lead ECG….? ECHO
HperOxyg. test
Classification
Cyanotic Acyanotic
1. Pul Outflow Obst: 1. L-R shunt:
● TOF ● VSD
● T. Atresia ● ASD
● others ● PDA
1. Pul.outflow++ ● AVSD
● TGA 1. Outflow Obst:
● TAPVR ● PS
● Trucus arteriosus ● AS
● others ● CoA
Case 1
A 2-year old boy is noted to have cyanosis. He is not
in respiratory distress, and has no fever. His mother
says he has “always looked that colour”, but has had
episodes in the past when he goes pale and quiet
during play, and has to sit himself down for a while.
What is the most likely cause?
Tetralogy of Fallot-
what are the 4 components?
Pulmonary Stenosis
Right ventricular hypertrophy
‘Perimembranous’ VSD
Overriding Aorta
Tetralogy of Fallot
• Usually presents in infancy/early childhood
• The child may be noted to be dusky from early life,
gradually increasing over time.
• Main physical signs are persistent cyanosis, and an ejection
systolic murmur corresponding to the pulmonary stenosis
• Polycythaemia occurs
• The child also suffers from hyper-cyanotic spells, which
may be the presenting feature
Tetralogy
of Fallot
CXR shows ‘boot shaped heart’
Tetralogy of Fallot
Definitive diagnosis is by echocardiogram
Definitive treatment is surgical
Medical management includes
◦ Antibiotic prophylaxis
◦ ?Anticoagulation
◦ Treatment of Cyanotic Spells
Hyper-Cyanotic Spells in ToF
• Right ventricular outflow obstruction tends to get
worse over time, and acute episodes of “pulmonary
infundibular spasm” occur.
• Spells precipitated by activity (feeding, playing), and
may last minutes and then resolve, or progress
• Presents deepening cyanosis, agitation, tachypnoea,
and pallor, and ultimately floppiness and loss of
consciousness, with which brain damage may occur.
• Older children may squat to terminate the spell.
Why?
Treatment of Cyanotic Spells
◦ Put the child in a squatting or knee-chest position – to
increase systemic vascular resistance and promote
systemic venous return to the heart
◦ Give oxygen - to decrease peripheral pulmonary
vasoconstriction
◦ Analgesia (e.g. morphine)- to decrease release of
catecholamines thereby decrease heart rate (increasing
filling time) and relaxation of the infundibular spasm
◦ i.v. fluid bolus - to improve right ventricular preload
Case 2
Is a 7 year old girl who comes with a 1 week history of
progressive breathlessness and a cough.
On examination, she has signs of heart failure. She is not pale
or cyanosed.
What may be the congenital
causes of heart failure in this girl?
Congenital lesions which may
give cardiac failure
VSD
ASD
PDA
Coarctation of the aorta
Ventricular Septal Defect
(VSD)
oA connection between the 2 ventricles causing left to right
blood flow
oCommonest cause of heart failure in infancy
oThe bigger the hole, the quieter the murmur
oHarsh pansystolic murmur loudest at left lower sternal
edge
Hemodynamics L-R shunt:
1. pulmonary blood flow ++
2. PA blood pressure ++
3. pulmonary venous pressure +
4. LA / LV volume load ++
5. CO decrease
Based on size of defect (anatomical)
and (physiological) pressure gradient/
resistance RV-LV
VSD. Posteroanterior (A) and lateral (B). 2-month-old infant. Increased pulmonary
vascular markings and lung hyperinflation. The flattened hemidiaphragms are
predictive of associated pulmonary hypertension. Adapted from the Atlas of
Pediatric Diagnosis. Zitelli and Davis. Seventh Edition. 2018.
VSD
60% will close spontaneously
Some never close, and require surgery
Medical Treatment
◦ Treat heart failure
◦ Antibiotic prophylaxis
Atrial Septal Defect (ASD)
Connection between the 2 atria, causing left to right
blood flow, and an overloaded right side of the heart
Most children will be asymptomatic
Murmur is one of increased blood flow through the
pulmonary valve, i.e. ejection systolic murmur loudest in
pulmonary area
hemodynamics L-R shunt:
1. RA/RV blood flow ++
2. pulmonary blood flow ++
3. RV dilatation hyperdynamic
depends on size of defect,
compliance of RV/LV, resistance of
vascular circulations
No murmur across the shunt….why?
Syst. Eject. murmur on LUSB….?
Rumbling Diast. murmur on LLSB...?
S2 Wide Fixed Split
ASD
CXR – big heart, large pulmonary artery, pulmonary
plethora, small aorta
Treatment is surgical
Medical management
◦ Treat heart failure
◦ Antibiotic prophylaxis?
Patent Ductus Arteriosus
• Mostly premature infants
• Failure to close ductus arteriosus after birth
• ‘Reversed’ flow (compared to in utero) means
blood in aorta diverted to pulmonary circulation
• ‘Machinery’ murmur below (L) clavicle
Fetal Circulation
•
Coarctation of the Aorta
• A narrowing at a specific point in the aorta
• Usually before the point at which the ductus arteriosus
joins
• Therefore presents when the duct closes, with
‘collapsed baby’ and heart failure (infants),
Hypertension (older children)
• May have reduced or absent femoral pulses, 4 BP
• Systolic murmur
•Common associated syndrome??
Hemodynamics:
1. LV afterload ++
2. sys + diast LV pressure ++
3. LA pressure ++
● PFO L-R shunt OR
● pul ven. pressure/ PA ++
1. RV dilatation
Differential cyanosis
pink UL blue LL
Reversed diff. cyanosis..lesions?
Coarctation of the Aorta
Treatment is surgical
But many survive into adult life without knowing they
have a coarctation
Medical Management
◦ Treat heart failure
◦ Antibiotic prophylaxis
A cardiac echo reveals no
evidence of a congenital lesion.
What may be the acquired
causes of heart failure in this
girl?
Consider:
Rheumatic heart disease
Cardiomyopathy
Myocarditis
Bacterial Endocarditis
Rheumatic Heart Disease (RHD)
Cause: Episode (or episodes) of acute rheumatic fever
leading to endocardium inflammation. Mainly affects the
mitral and aortic valves
Inflammation settles with scarring, fibrosis and deformity
of the valve, which may lead to heart failure over time
RHD- mitral regurgitation:
the commonest lesion
• During systole, blood goes ‘backwards’ through the
incompetent valve from the left ventricle to the left
atrium and pulmonary veins
• This reduces cardiac output and eventually leads to
pulmonary oedema
• The left ventricle hypertrophies to compensate
RHD- mitral regurgitation
• Symptoms may take a long time to develop
• Patient is easily fatigued and breathless as heart
failure develops
Cardiomyopathy and
myocarditis
Cardiomyopathy- weakened heart muscle, commonly
with dilatation. May be idiopathic or related to
underlying metabolic or connective tissue disorders.
Myocarditis- inflammatory process of heart muscle,
commonly following viral illness.
Cardiomyopathy and
myocarditis
• Difficult to distinguish
• Characterised by a poorly-contracting, large ‘flabby’
heart with heart failure
• Present at any age with heart failure, poor perfusion,
and often a mitral regurgitation murmur
Bacterial Endocarditis
• Occurs in children with congenital or acquired heart
defects which cause turbulent blood flow e.g. across a valve
•Bacterial ‘vegetations’ form on damaged endothelium and
shed infective emboli
• It is part of the differential of fever in a child with cardiac
signs
Bacterial endocarditis
Onset is sometimes acute, with fever, prostration and
heart failure
However, usually onset is insidious, with fever,
fatigue, loss of appetite, joint pains
On examination: variable heart murmur, petechial
rash, splinter haemorrhages, Oslers nodes, clubbing,
subconjunctival haemorrhages, splenomegaly,
neurology
Antibiotic Prophylaxis
Used to prevent infective endocarditis.
The risk is highest in those lesions producing a high velocity
turbulent blood flow
Antibiotics should be given to children with unrepaired
cyanotic heart lesions, repaired with residual defect,
prosthetic device prior to surgery/minor op/ dental procedure
How will you treat the 7 year old
girl with heart failure?
Treatment of Heart Failure- 1
Reduce the amount of blood that the heart has to pump:
Diuretics:
Frusemide (1-3mg/kg/day)
Spironolactone (1-3mg/kg.day)
Reduce amount of work:
Vasodilators:
eg. captopril
Treatment of Heart Failure 2
Make the heart pump harder:
Digoxin: (10-30ug/kg/day)
Inotropes: noradrenaline and
adrenaline given on ICU/HDU
Treatment of Heart Failure 3
Supportive Therapy
1. Feeding
• Tube feeding is helpful in babies if there are feeding
difficulties
• Dietary advice e.g. low salt
2. Nursing
• Nurse in a sitting position
And finally…..
Why might children with
untreated VSD’s or ASD’s
eventually turn blue?
Eisenmenger’s Syndrome
Untreated ASD/ VSD/AVSD cause a chronic increase in pulmonary
blood flow.
Irreversible damage to the pulmonary vasculature occurs causing
pulmonary hypertension
Eventually, flow across the VSD/ASD/AVSD reverses (R-L), the child
becomes cyanosed, polycythaemic etc etc.
◦ It is now too late to fix the septal defect!
Don’t forget to look for….
Finger clubbing
resulting from
reversal shunt in
PDA.
Adapted from the
Atlas of Pediatric
Diagnosis. Zitelli
and Davis.
Seventh Edition.
2018.
