Congenital Heart Disease

Sharimilee Ratnam
Year 3
National Defence University Malaysia
Congenital Heart Disease
Usually manifests in childhood

May pass unrecognized and not
present until adult life.

Defects that are well tolerated such as
ASD may cause no symptoms until
adult life and may be detected
incidentally o routine examination or
CXR
CHD that were previously fatal in
childhood, now can be corrected. (or
at least, partially corrected).

Such patients remain well for many
years but subsequently re-present in
later life with related problems such
as arrthymia.
Aetiology
Maternal infection (e.g Rubella)
Maternal alcohol misuse
Maternal exposure to drugs
Genetic or chromosomal defect (e.g.
Downs syndrome, Marfans
Syndrome)

Presentation of Congenital Heart
Disease throughout life
Birth
Cyanosis, Heart failure
Infancy and
Childhood
Cyanosis, Heart failure, Arrhythmia, Murmur, FTT
Adolescence
and Adulthood
Heart Failure, Murmur, Arrhythmia, Cyanosis due to shunt
reversal (Eisermengers Syndrome), Hypertension (COA), Late
consequences of previous cardiac surgery (e.g. arrhythmia,
heart failure)
Abnormal Heart sounds
First clinical manifestation of heart
disease may be the discovery of an
abnormal sound upon auscultation.

So, what you need to identify about the sound is

Is the sound cardiac?
may be extracardiac sounds e.g. pleural rub or venous hum)

Is the sound pathological?
Some sounds may be physiological / pathological.
E.g. Third heart sound may be normal in young people and
pregnancy but it is also a feature of heart failure

What kind of sound is it?
S3/S4
Click
Murmur

Heart sounds
S1 Closure of mitral and tricuspid valve
S2 Closure of aortic and pulmonary valves.
Split with inhalation, single when expiration

S3 Heard in early diastole, due to rapid
ventricular filling (Ken.Tucky)
S4 Heard in late diastole just before S1, due
to decreased ventricular compliance
(tenne.ssy)
NORMAL
ABNORMAL
Clicks
A click implies valvular abnormality or dilated
great artery

May or may nor be associated with murmur

MIDSYSTOLIC CLICK mitral valve prolapse

EJECTION CLICK occurs in early systole

AORTIC CLICK louder at the apex, left
midsternal border
Murmurs
Murmurs are the product of
turbulent blood flow

Evaluated by;
Timing
Intensity
Location
Radiation
Quality

When does it occur?
Time the murmur using heart sounds, carotid pulse and
the apex beat. It is systolic or diastolic?
Does the murmur extend through the systole or
diastole ?
How loud is it? (intensity)
GRADE 1: Very soft (only audible in ideal conditions)
GRADE 2: Soft
GRADE 3: Moderate
GRADE 4: Loud with associated thrill
GRADE 5: very loud
GRADE 6: Heard without stethoscope
Where is it heard best? (Location)
Listen over the apex and the base of the heart,
including the aortic and pulmonary area
Where does it radiate?
Listen at the neck, axilla or back
What does it sound like? (pitch
and quality)
Pitch is determined by flow. High pitch; High velocity
flow.
Is the intensity constant or variable?
HOW TO ASSESSS A HEART MURMUR
Features of some common systolic murmurs
Condition Timing
and
duration
Quality Location and
Radiation
Associated Features
Aortic
sternosis
Mid
Systolic
Loud
Rasping
Base and left
sternal edge,
radiating to
suprasternal
notch and
carotids
Single second heart
sound
Ejection click
Slow rising pulse
Left ventricular
Hypertrophy
Mitral
regurgitation
Pansystoli
c
Blowing Apex, radiating to
axilla
Soft first heart sound
Third heart sound
Left Ventricular heart
sound
VSD Pansystol
ic
Harsh Lower left
sternal edge,
radiating to
whole
precordium
Thrill
Biventricular
Hypertrophy
Benign Mid-
systolic
Soft Left sternal edge,
no radiation
No other signs of
heart disease
Normal Physiological Murmurs a.k.a.
Innocent Murmurs
Common, occurs in at least 80% of normal infants and
children

Also called benign, functional, vibratory and flow murmurs

Features (3S+CaR)
Soft
Mid-Systolic
Heard at Sternal edge
No other Cardiac abnormalities
No Radiation

Heart Failure
Symptoms Signs
Breathlessness
Sweating
Poor feeding
Recurrent chest infection

Poor weight gain
Tachypnea
Tachycardia
Heart murmur
Enlarged heart
Hepatomegaly
Cool peripheries
Ankle edema
Ascites

The Fetal Circulation
In a fetus, blood flow to the lungs is
very little. (lungs not developed yet, so
the job of gas exchange is done the
placenta)

Thus, the flow of blood in fetal heart
is different from that after birth

Oxygenated blood
comes through the
umbilical vein
where it enters the
inferior vena cava
via the ductus
venosus
Through open
foramen ovale
Oxygenated
blood in RA
Left
Atrium
Left
Ventricle
Aorta

Venous blood
from SVC
RV
Mixing of oxygenated and
deoxygenated blood!!!
Pulmonary
artery
Pulmonary
vasculature has a
high resistance
and so little
blood passes to
the lungs.
Most of the blood
passes through the
ductus arteriosus to
the descending aorta

Aortic
Isthmus
A constriction
in the aorta
that lies in
the aortic arch
before the
junction with
the ductus
arteriosus
WHY?

To ensure less
oxygen rich blood
is supplied to
organ systems that
take up their
function mainly
after birth
(e,g,the kidneys,
GI tract)
FUNCTION?

Limits flow oxygen
rich blood into the
aorta


1. Lungs expand with air and
pulmonary vascular resistance
falls, so blood flows to the lungs
and back to the LA increased
LA pressure flap of foramen
ovale closes

2. The umbilical arteries and the
ductus venosus close

3. In the next few days, the
ductus arteriosus closes under
the influence of hormonal
changes

4. Aortic isthmus expands
At
Birth
1
2
3
4

In newborn:
1
st
cry causes the vol of blood
flows to the lung increases by
6x.
This results in rise of LAP
As placenta removed,
blood vol comes back to RA
Change in pressure causes
FO closed
Ductus arteriosus closed few
hours/days after birth


Fetal passage that will disappear after
birth:
1. Umbilical vessels
2. Foramen ovale
3. Ductus arteriosum becomes ligamentum
arteriosum
4. Ductus venosus becomes ligamentum venosum

Congenital heart Defects
Left to Right Shunts
(Breathless or
asymptomatic)
Atrial Septal Defect
Ventricular Septal Defect
Persistant Ductus Arteriosus
Right to Left Shunts
(Blue)
Teratology of Fallot
Transposition of the great arteris
Common Mixing (Blue
and Breathless)
Atrioventricular Septal defect
Outflow Obstruction
Coarctation of Aorta
1. Patent Ductus Arteriosus
During fetal life,
before the lungs start
to function, most of
the blood passes
through the ductus
arteriosus into the
aorta.

Normally the duct
closes at birth but
sometimes fails to do
so.

Since pressure in the aorta is higher than in the pulmonary artery, there
will be a continuous ARTERIO VENTRICULAR SHUNT. (blood from aorta
that is supposed to reach the rest of the body re-enters the heart) This
results in increased work of the heart.

PDA clinical features
Small shunt; no symptoms for years

Large shunt; growth and development may be retarded

In infancy no disability but will eventually cause heart failure, with
dyspnea being the first symptom.

Continuous, machine like murmur beneath left clavicle

Accompanied by thrill

Pulses increases in volume

Enlarged pulmonary artery (detected radiologically)

ECG usually NORMAL


PDA Management
Closure is recommended to avoid risk of
bacterial endocarditis and of pulmonary
occlusion disease

Closure is with a coil or occlusion device
introduced via a catheter at about 1 year of
age

Occasionally, surgical ligation is required.
2. Atrial Septal Defect
2 types
Secundum ASD
80%
Defect in the CENTER of the atrial septum
Partial AVSD (pASD)
Intraatrial communication between the BOTTOM end of
the artrial septum and the atrioventricular valves

Both present with similar sign and symptoms,
but their anatomy is quite different.


Symptoms Physical Signs
None (commonly) Ejection systolic murmur best heard at
upper left sternal edge
Recurrent chest infection Fixed and widely split second heart sound
Arrhythmias (fourth decade onwards) Apical pan systolic murmur
I
n
v
e
s
t
i
g
a
t
i
o
n
s

Chest radiograph
Cardiomegaly
Enlarged pulmonary arteries
Increased pulmonary markings
ECG
Secundum ASD right axis deviation due to right ventricular enlargement

Partial AVSD superior QRS axis

Management
For secundum ASDs, treatment of insertion of an occlusion
device

For pAVSD, surgical correction is required
3. Ventricular Septal Defect
Common, accounts
for 30% of all cases
of congenital heart
disease

Defect ANYWHERE
in the ventricular
septum.



Small VSD Large VSD
Smaller than the aortic valve in
diameter, perhaps up to 3 mm
Defect are the same size or bigger than the aortic valve
Clinical features
Symptoms asymptomatic
Physical signs loud pan systolic
murmur at lower left sternal
edge
Clinical features
Symptoms
heart failure with breathlessness
FTT

Physical signs
Tachypnoea, tachycardia, enlarged liver from heart failure
Soft pan systolic murmur or no murmur (implying large defect)
Apical mid-diatolic murmur

Investigation
Chest radiograph NORMAL!!!
ECG NORMAL!!!
Echocardiography
demonstrated the precise
anatomy of the defect. It is
possible to assess the
hemodynamic effects using
Doppler echo
Investigation
Chest radiograph cardiomegaly, enlarged pulmonary arteries,
increased pulmonary vascular markings, pulmonary edema
ECG Biventricular hypertrophy by 2 months of age
Echocardiography demonstrated the precise anatomy of the defect,
hemodynamic effects and pulmonary hypertension
Management
Lesion will close spontaneously.
Ascertain by disappearance of
murmur with normal ECG on
follow up.
Management
Heart failure diuretics + captopril
Surgery at 3-6 months to manage heart failure and FTT, prevent
permanent lung damage from pulmonary hypertension and high blood
flow.

4. Teratology of Fallot
Most common cause of cyanotic congenital heart
disease
4 cardinal anatomical features

Present at birth
1. Large VSD

2. Overiding of aorta with respect to the ventricular
septum\

Later on

4. Pulmonary stenosis causing right ventricular outflow
tract obstruction (fxn is to protect pulmonary vasculature
from pressure overload)

5. Right ventricular hypertrophy as a result


Most are diagnosed;
Antenatally, or,
Following identification of murmur at 2 months of life.

Symptoms Signs
Cyanosis Clubbing of the fingers and toes (in
older children)
Hypercyanotic spells and squatting
on exercise (Tet spells)
Loud harsh systolic murmur at left
sternal edge form day one
TET
spells
Babies with tetralogy of Fallot will suddenly develop deep
blue skin, nails and lips after crying, feeding, having a bowel
movement, or kicking his or her legs upon awakening.

Caused by a rapid drop in the amount of oxygen in the blood.

Toddlers or older children may instinctively squat when
they are short of breath.

Squatting increases blood flow to the lungs.

Tet spells are more common in young infants, around 2 to 4
months old.
INVESTIGATIONS
Chest Radiograph Show a relatively small heart with uptilted apex (BOOT-SHAPED
HEART) due to right ventricle hypertrophy

Right side aortic arch

Pulmonary artery bay (concavity on left heart border)

Decreased pulmonary vascular markings (marks reduced pulmonary blood
flow) Oligiemic Lung field
ECG Normal at birth, right ventricular hypertrophy when older
Echocardiogram Will demonstrate the cardinal features, but cardiac catheterization may be
required to show the detailed anatomy of the coronary arteries

Management of TOF
Initial; Medication

Around 6 months; Surgery to close VSD And relieve right
ventricular outpath obstruction

Infants who are very cyanosed in the neonatal period may
require a shunt to increase pulmonary blood flow. (Blalock-
Taussig Shunt)
Blalock Taussig Shunt
Surgical insertion of a
tube between the
subclavian artery and
pulmonary artery to
increased pulmonary
blood flow
Hypercyanotic spells
Usually self-limiting and followed by aperiod of sleep. If prolonged
(beyond 15 min), they require prompt treatment with
Sedation and pain relieve
IV Propanolol ( adrenoceptor agonist) which works as a peripheral
vasoconstrictor
IV volume administration
Bicarbonate to correct acidosis
Muscle paralysis and artificial ventilation in order to reduce metabolic
oxygen demand
5. Transposition of the great arteries
In a normal heart,
right ventricle Pulmonary artery
Left ventricle Aorta

But in TGA,
right ventricle Aorta
Left ventricle Pulmonary artery


So deoxygenated blood remains circulating in the systemic circulation,
while oxygenated blood keeps circulating in the pulmonary
circulation. They become two separate circulation that do not mix.
So how does the baby survive?
The only way this condition is compatible with
life is if there is naturally occurring associated
abnormalities like VSD or ASD that allows
mixing of blood.

Also, if there is therapeutic intervention that
can achieve this mixing in short term

Clinical features of TGA
Symptoms Physical Signs
Cyanosis is the predominant symptom.

Presentation is usually on the day 2
of life when ductal closure leads to a
marked reduction in mixing of blood

Cyanosis will be less severe if there is
additional mixing of blood from
associated anomalies like VSD

Cyanosis; ALWAYS PRESENT

Second heard sound often loud and
single

Usually no murmur, but may be a
systolic murmur from increased flow or
stenosis within the left ventricular
outflow tract.

Investigation of TGA
Chest Radiograph Narrow upper mediastinum with an egg on side
appearance of the cardiac shadow

Increased pulmonary vascular markings due to increased
pulmonary blood flow.
ECG Usually normal
Echocardiography Demonstrates the abnormal arterial connections and
associated abnormalities
Management of TGA
Sick cyanosed child; improve mixing!!!

Maintain patency of ductus arteriosus with
prostaglandin infusion

Balloon arterial septostomy involves tearing of
the atrial septum to render the flap of the
foramen ovale incompetent to allow mixing of
blood

Surgery; in first few days of life, the pulmonary
artery and aorta are transected and switched over

Eisenmenger Syndrome
Key word here; Blue Teenager

Left Right shunt that is not treated in early stage becomes reversed to Right Left
shunt.

Due to compensation where when there is increased blood in the right side, the
pulmonary arteries become thick walled with increased resistance to reduce blood flow
to the lungs.

Shunt reverses at 10-15 years, and the teenager becomes blue.

Progressive condition, adult will die of heart failure in the fourth of fifth decade of life.

Coarctation of the Aorta
An outflow obstruction due to
arterial tissue duct encircling the
aorta just at the point of insertion
of the duct.

When the duct closes, aorta also
constricts, causing severe
obstruction to the left ventricular
outflow.

This is the commonest cause of
collapse in outflow obstruction.
Clinical Features
Examination on the first two days are normal.
Neonates usually present with acute circulatory collapse due to left
outflow obstruction.
Physical Signs Investigations
Sick baby with severe
heart failure
Chest
radiograph

Cardiomegaly
from heart
failure and
shock
ECG

Normal
Absent femoral pulse
Severe metabolic acidosis
Management
Surgical repair is
done soon after
diagnosis