Transcript Congenital Heart Disease Cyanotic

Congenital Heart Disease
Cyanotic
Leonardo A. Pramono MD
Cyanosis
• Bluish tinge to the skin
• Results from decreased oxygenation of the
blood
• At least 5 g/dL of reduced Hgb is present 
clinically apparent
• Thin epidermis places, minimalpigmentation
and abundant capillaries  tips of finger and
toes, under the nailbeds, bucal mucosa
Cyanosis Things to think
Causes
Findings
CNS depression
Perinatal asphyxia
Heavy metal disorder
Intrauterine fetal distress
Shallow iregullar respiration
Poor muscle tone
cyanosis disappears with O2
Pulmonary disease
HMD
Atelectasis
Pneumothorax, pericardial
effusison
CDH
Persistent PHN
Tachypnic, DOB with retraction
grunting
crackles, decreased breath
sound. Cyanosis relieved by O2
CARDIAC DISEASE
Cyanotic CHD R-L shunt
Tachypnic no retraction, no
crackles nor abnormal breath
sounds, unless CHF
+ murmur
CXR : cardiomegaly, increase
or decrease PVM, little or no
increase in paO2 with O2
administration
Cyanosis Things to do
• Confirm presence of cyanosis
– Pulse oximetry
– ABG
• Confirm cardiac pathology
– CXR
– ECG
– 2Decho
– Cardiac catheter and angiography
Cyanotic heart disease in connection
on pulmonary blood flow
Cyanotic
Defects
PBF
PBF
LVH/CVH
TA, SV,
TGA+VSD
RVH
TGA, TAPVC,
HLHS
LVH
TA w/HPA,
SV w/ PS
CVH
Tri-At, PA w/
HRV
RVH
TOF, DORV,
Ebstein
CHD
Cyanotic
• Increased
Pulmonary Blood Flow
• Right Ventricular
Hyperthrophy
• Transposition of the Great
Arteries
–
–
–
–
dTGA
dTGA w/ intact VS
TGA w/ VSD
L-TGA
• Total Anomalous
Pulmonary Venous Return
• Hypoplastic Left Heart
Syndrome
Transposition GA
• common cyanotic CHD
• accounts for ≈5% of all
CHD
• The aorta arises from the
right ventricle and the
pulmonary artery from
the left ventricle
• in d-TGA the aorta is
anterior (N = posterior)
and to the right of the
pulmonary artery
• Desaturated blood
returning from the body
to the right side of the
heart goes
inappropriately out the
aorta and back to the
body again
• oxygenated pulmonary
venous blood returning to
the left side of the heart
is returned directly to the
lungs
Transposition GA
• They should have a
shunt for a survival
– VSD
– PFO/ASD
– PDA
• Accompanied with PS
 decreased PBF
• common in IDM and in
males (3 : 1)
• d-TGA + pulmonic
stenosis or right aortic
arch deletion of
chromosome 22q11
( DiGeorge syndrome)
TGA
d-TGA
TGA
• Simple TGA  TGA with
no VSD PDA
dependent
• Pulse oximetry pre
ductal and post ductal
• PE : Tachypnea and
cyanosis on first hour of
life, murmurs +/- (VSD,
PDA, PS) , S2 single and
loud/split (ASD)
• Diagnostic :
– ECG : normal, right
sided-neonatal heart
– CXR : Egg shape,
increased PBF (decrease
if with PS)
– 2Decho
– Cardiac Catheter
TGA
• When TGA is suspected, an infusion of prostaglandin E1 should be
initiated immediately to maintain patency of PDA and improve
oxygenation (dose : 0.01-0.20 ug/kg/min)
• Because of the risk of apnea associated with prostaglandin infusion,
an individual skilled in neonatal endotracheal intubation should be
available.
• Hypothermia intensifies the metabolic acidosis resulting from
hypoxemia, and thus the patient should be kept warm.
• Prompt correction of acidosis and hypoglycemia is essential.
• Infants who remain severely hypoxic or acidotic despite
prostaglandin infusion should undergo Rashkind balloon atrial
septostomy
• Surgical management : arterial switch (Jatene) procedure , atrial
switch procedure (Mustard or Senning operation)
Total Anomalous Pulmonary Venous Return
(TAPVR)
• (TAPVR) is associated with
total mixing of systemic
venous and pulmonary
venous blood flow within
the heart and thus produces
cyanosis.
• The heart has no direct
pulmonary venous
connection into the left
atrium
Types
1. Supracardiac (most
common): Common
pulmonary vein into
SVC
2. Cardiac: Pulmonary vein
into coronary sinus or
RA
3. Subdiaphragmatic:
Common pulmonary vein
into IVC, portal vein,
ductus venosus, or hepatic
vein
4. Mixed type
Total Anomalous Pulmonary Venous Return
(TAPVR)
• The clinical manifestations of
TAPVR depend on the
presence or absence of
obstruction of the venous
channels
• If pulmonary venous return is
obstructed, severe pulmonary
congestion and pulmonary
hypertension develop; rapid
deterioration occurs without
surgical intervention.
• Obstructed TAPVR is a
pediatric cardiac surgical
emergency because
prostaglandin therapy is
usually not effective.
SITE OF
CONNECTION (% OF
CASES)
% WITH
SIGNIFICANT
OBSTRUCTION
Supracardiac (50)
Left superior vena
cava (40)
40
Right superior vena
cava (10)
75
Cardiac (25)
Coronary sinus (20)
10
Right atrium (5)
5
Infracardiac (20)
95-100
Mixed (5)
Total Anomalous Pulmonary Venous
Return (TAPVR)
Total Anomalous Pulmonary Venous Return
(TAPVR)
TAPVR
Snowman
Total Anomalous Pulmonary Venous
Return (TAPVR)
• Two major clinical patterns of
TAPVR are seen, depending on
the presence or absence of
obstruction.
• If with severe obstruction to
pulmonary venous return present
with severe cyanosis and
respiratory distress. Murmurs
may not be present. These infants
are severely ill and fail to respond
to mechanical ventilation.
• Rapid diagnosis and surgical
correction are necessary for
survival.
• In contrast, those with mild or no
obstruction to pulmonary venous
return are usually characterized
by the development of heart
failure as the pulmonary vascular
resistance falls, with mild to
moderate degrees of
desaturation.
• Surgical correction of TAPVR is
indicated during infancy
• If surgery cannot be performed
urgently, extracorporeal
membrane oxygenation (ECMO)
may be required to maintain
oxygenation.
Hypoplastic Left Heart Syndrome
(HLHS)
• The term hypoplastic left heart
is used to describe a related
group of anomalies that
include underdevelopment of
the left side of the heart
(atresia of the aortic or mitral
orifice) and hypoplasia of the
ascending aorta.
• Pulmonary venous blood
passes through an atrial septal
defect or dilated foramen
ovale from the left to the right
side of the heart, where it
mixes with systemic venous
blood (total mixing lesion).
• When the ventricular septum
is intact, which is usually the
case, all the right ventricular
blood is ejected into the main
pulmonary artery
• The descending aorta is
supplied via the ductus
arteriosus, and flow from the
ductus also fills the ascending
aorta and coronary arteries in
a retrograde fashion.
Hypoplastic Left Heart Syndrome
(HLHS)
CHD
Cyanotic
• Increased
Pulmonary Blood Flow
• Left Ventricular
Hyperthrophy or
Combined Ventricular
Hyperthrophy
• Truncus Arteriosus
• Single Ventricle
• TGA + VSD
Truncus Arteriosus
• In truncus arteriosus, a
single arterial trunk
(truncus arteriosus) arises
from the heart and
supplies the systemic,
pulmonary, and coronary
circulations
• A VSD is always present,
with the truncus
overriding the defect and
receiving blood from both
the right and left
ventricles
Truncus Arteriosus
• The pulmonary arteries can arise together from the posterior
left side of the persistent truncus arteriosus and then divide into
left and right pulmonary arteries (type I).
• In types II and III truncus arteriosus, no main pulmonary artery
is present, and the right and left pulmonary arteries arise from
separate orifices on the posterior (type II) or lateral (type III)
aspects of the truncus arteriosus.
Truncus Arteriosus
• Type IV truncus is a term no
longer used, since in this
case there is no identifiable
connection between the
heart and pulmonary
arteries, and pulmonary
blood flow is derived from
major aortopulmonary
collateral arteries (MAPCAs)
arising from the transverse
or descending aorta; this is
essentially a form of
pulmonary atresia
Truncus Arteriosus
Truncus Arteriosus
• Both ventricles are at
systemic pressure and
both eject blood into
the truncus.
• When pulmonary
vascular resistance is
relatively high
immediately after birth,
pulmonary blood flow
may be normal
• If the lesion is left
untreated, pulmonary
resistance eventually
increases, pulmonary
blood flow decreases,
and cyanosis becomes
more prominent
(Eisenmenger
physiology)
Truncus Arteriosus
• ECG : right, left, or combined ventricular hypertrophy.
• The CXR shows considerable variation. Cardiac
enlargement will develop over the 1st several weeks of
life, and is due to prominence of both ventricles.
• Echocardiography is diagnostic and demonstrates the
large truncal artery overriding the VSD and the pattern
of origin of the branch pulmonary arteries.
• Cardiac catheterization shows a left-to-right shunt at
the ventricular level, with right-to-left shunting into the
truncus.
• Angiography reveals the large truncus arteriosus and
more defines the origin of the pulmonary arteries.
Truncus Arteriosus
• In the 1st few weeks of life, many of these infants can be
managed with anticongestive medications; as pulmonary
vascular resistance falls, heart failure symptoms worsen
and surgery is indicated, usually within the 1st few months.
• Delay of surgery much beyond this time period may
increase the likelihood of pulmonary vascular disease
• Many centers now perform routine neonatal repair at the
time of diagnosis.
• Surgical management :
– the VSD is closed
– the pulmonary arteries are separated from the truncus
– continuity is established between the right ventricle and the
pulmonary arteries with a homograft conduit.
Single Ventricle
• With a single
ventricle, both atria
empty through a
common
atrioventricular
valve or via 2
separate valves into
a single ventricular
chamber, with total
mixing of systemic
and pulmonary
venous return.
Single Ventricle
• The clinical picture is variable and depends on the
associated intracardiac anomalies.
• If pulmonary outflow is obstructed, the findings
are usually similar to those of tetralogy of Fallot:
marked cyanosis without heart failure.
• If pulmonary outflow is unobstructed, the
findings are similar to those of transposition with
VSD: minimal cyanosis with increasing heart
failure.
Single Ventricle
Obstructed
• With pulmonary stenosis
• Cyanosis is present in early infancy
• Cardiomegaly is mild or moderate
• Left parasternal lift is palpable, and a
systolic thrill is common.
• The systolic ejection murmur is usually
loud
• An ejection click may be audible, and the
2nd heart sound is single and loud
unobstructed
• present with tachypnea, dyspnea, failure
to thrive, and recurrent pulmonary
infections.
• Cyanosis is only mild or moderate.
• Cardiomegaly is generally marked
• Left parasternal lift is palpable.
• A systolic ejection murmur is present but
is not usually loud or harsh
• 2nd heart sound is loud and closely split.
• A 3rd heart sound is common and may be
followed by a short mid-diastolic rumbling
murmur caused by increased flow through
the atrioventricular valves.
• The eventual development of pulmonary
vascular disease reduces pulmonary blood
flow so that the cyanosis increases and
signs of cardiac failure appear to improve
CHD
Cyanotic
• Decreased
Pulmonary Blood Flow
• Left Ventricular
Hyperthrophy
• Tricuspid atresia
• Pulmonary Atresia with
Hypoplastic Right
Ventricle
Tricuspid Atresia
• No outlet from the
right atrium to the right
ventricle is present; the
entire systemic venous
return leaves the right
atrium and enters the
left side of the heart by
means of the foramen
ovale or, most often,
through an atrial septal
defect
Tricuspid Atresia
• The physiology of the
circulation and the clinical
presentation will depend on
the presence of other
congenital heart defects, most
notably on whether the great
vessels are normally related or
are transposed
• In patients with normally
related great vessels, left
ventricular blood supplies the
systemic circulation via the
aorta.
• Blood also usually flows into
the right ventricle via a VSD
• If the ventricular septum is
intact, the right ventricle will
be completely hypoplastic and
pulmonary atresia will be
present
Tricuspid Atresia
• Pulmonary blood flow
(and thus the degree of
cyanosis) depends on the
size of the VSD and the
presence and severity of
any associated pulmonic
stenosis.
• Pulmonary blood flow
may be augmented by or
be totally dependent on a
PDA. The inflow portion
of the right ventricle is
always missing in these
patients, but the outflow
portion is of variable size
Tricuspid Atresia
Diagnostic
• ECG: Left axis deviation
and left ventricular
hypertrophy are generally
noted on the
electrocardiogram
(except in those patients
with transposition of the
great arteries),
• CXR
• 2Decho, cardiac
catheterization if still
needed.
Cyanotic heart disease
+
Left axis deviation
is
Higly suggestive of tricuspid
atresia
CHD
Cyanotic
• Decreased
Pulmonary Blood Flow
• Combined Ventricular
Hyperthrophy
• Truncus Arteriosus w/
Hypoplastic Pulmonary
Artery
• Single Ventricle with
Pulmonic Stenosis
CHD
Cyanotic
• Decreased
Pulmonary Blood Flow
• Right Ventricular
Hyperthrophy
• Tetralogy of Fallot
• DORV
• Ebstein anomaly
Tetralogy of Fallot
Tetralogy of Fallot is
one of the
conotruncal family
of heart lesions in
which the primary
defect is an anterior
deviation of the
infundibular septum
(the muscular
septum that
separates the aortic
and pulmonary
outflows).
The consequences of this
deviation are the 4
Components :
Tetralogy of Fallot
Pulmonary stenosis
• Obstruction to pulmonary
arterial blood flow is usually at
both the right ventricular
infundibulum (subpulmonic
area) and the pulmonary
valve.
• The main pulmonary artery
may be small, and various
degrees of branch pulmonary
artery stenosis may be
present.
• The degree of pulmonary
outflow obstruction
determines the degree of the
patient's cyanosis and the age
of first presentation.
Ventricular septal defect
• The VSD is usually
nonrestrictive and large, is
located just below the aortic
valve, and is related to the
posterior and right aortic
cusps
• the aortic root is usually large
and overrides the VSD to
varying degrees
• When the aorta overrides the
VSD by more than 50% and if
there is a subaortic conus, this
defect is classified as a form of
double-outlet right ventricle
Tetralogy of Fallot
• Systemic venous return to
the right atrium and right
ventricle is normal.
• When the right ventricle
contracts in the presence of
marked pulmonary stenosis,
blood is shunted across the
VSD into the aorta.
• Persistent arterial
desaturation and cyanosis
result, the degree
dependent on the severity
of the pulmonary
obstruction.
Tetralogy of Fallot
• The electrocardiogram
demonstrates right axis
deviation and evidence
of right ventricular
hypertrophy
• CXR : The cardiac
silhouette has been
likened to that of a boot
or wooden shoe (“coeur
en sabot”
Tetralogy of Fallot
Complication
• Polycythemia +
dehydration = Cerebral
tombosis
• Iron Deficiency anemia
• Brain abcess ( >2 yo)
• Bacterial endocarditis
Management
• Surgical repair
• Blalock Taussig Shunt
Paroxysmal hypercyanotic attacks
(hypoxic, “blue,” or “tet” spells)
• are a particular problem during
the 1st 2 yr of life.
• The infant becomes hyperpneic
and restless, cyanosis increases,
gasping respirations ensue, and
syncope may follow.
• The spells occur most frequently
in the morning on initially
awakening or after episodes of
vigorous crying.
• Temporary disappearance or a
decrease in intensity of the
systolic murmur is usual as flow
across the right ventricular
outflow tract diminishes.
• The spells may last from a few
minutes to a few hours. Short
episodes are followed by
generalized weakness and sleep.
• Severe spells may progress to
unconsciousness and,
occasionally, to convulsions or
hemiparesis
• The onset is usually spontaneous
and unpredictable
Paroxysmal hypercyanotic attacks
(hypoxic, “blue,” or “tet” spells)
Depending on the frequency and severity of hypercyanotic
attacks, one or more of the following procedures should be
instituted in sequence:
(1) placement of the infant on the abdomen in the knee-chest
position while making certain that the infant's clothing is not
constrictive
(2) administration of oxygen (although increasing inspired
oxygen will not reverse cyanosis caused by intracardiac
shunting)
(3) (3) injection of morphine subcutaneously in a dose not in
excess of 0.2 mg/kg.
Calming and holding the infant in a knee-chest position may
abort progression of an early spell.
Paroxysmal hypercyanotic attacks
(hypoxic, “blue,” or “tet” spells)
• Correct ion of metabolic acidosis with intravenous administration of
sodium bicarbonate is necessary if the spell is unusually severe and
the child shows a lack of response to the foregoing therapy.
• Repeated blood pH measurements may be necessary because rapid
recurrence of acidosis may ensue.
• For spells that are resistant to this therapy, intubation and sedation
are often sufficient to break the spell.
• Drugs that increase systemic vascular resistance, such as
intravenous phenylephrine, can improve right ventricular outflow,
decrease the right-to-left shunt, and improve the symptoms.
• β-Adrenergic blockade by the intravenous administration of
propranolol (0.1 mg/kg given slowly to a maximum of 0.2 mg/kg)
has also been used.
Ebstein’s Anomaly of the Tricuspid
Valve
• Ebstein anomaly consists
of downward
displacement of an
abnormal tricuspid valve
into the right ventricle
• The defect arises from
failure of the normal
process by which the
tricuspid valve is
separated from the right
ventricular myocardium
Ebstein’s Anomaly of the Tricuspid
Valve
Ebstein’s Anomaly of the Tricuspid
Valve
• The severity of symptoms and
the degree of cyanosis are
highly variable and depend on
the extent of displacement of
the tricuspid valve and the
severity of right ventricular
outflow tract obstruction.
• In many patients, symptoms
are mild and may be delayed
until the teenage years or
young adult life
• The atrial right-to-left shunt is
responsible for cyanosis and
polycythemia.
• A holosystolic murmur caused
by tricuspid regurgitation is
audible over most of the
anterior left side of the chest.
• A gallop rhythm is common
and often associated with
multiple clicks at the lower left
sternal border.
• A scratchy diastolic murmur
may also be heard at the left
sternal border. This murmur
may mimic a pericardial
friction rub.
Ebstein’s Anomaly of the Tricuspid
Valve
• The electrocardiogram
usually shows
– RBBB without increased right
precordial voltage,
– normal or tall and broad P
waves
– normal or prolonged P-R
interval.
• Wolff-Parkinson-White
syndrome may be present
and these patients may
have episodes of
supraventricular
tachycardia.
• On roentgenographic
examination, heart size
varies from slightly enlarged
to massive box-shaped
cardiomegaly caused by
enlargement of the right
atrium.
• In newborns with severe
Ebstein anomaly, the heart
may totally obscure the
pulmonary fields.
Ebstein’s Anomaly of the Tricuspid
Valve
Cyanotic CHD with Decreased PBF
Defect
TOF
Critical PS
Pulmonary
Atresia w/
intact IVS
Tricuspid
Atresia
Ebstein’s
Anomaly
Anatomy
RVOT obstruction,
overriding aorta,
VSD, RVH
Thick doming of
pulmonary valve
and PFO
Atresia of
pulmonary valve,
intact
Intraventricular
septal
Atresia of
tricuspid orifice,
with PFO/true
ASD
Displaced
tricuspid valve,
forms atrium like
chamber in right
heart, TR, +/- ASD
PE
Harsh HSM S2
often single
Long SEM, single
S2
Single S2, non
specific murmur
+/- single S2,
possible HSM of
VSD
HSM, gallop
rythm with
multiple clicks
ECG
Possible RVH and
RAD, QRS axis +90
to +180
Possible RVH and
RAD
Possible RAE and
LVH, QRS axis 0 to
+90
Possible LADand
LVH, may be
pathognomonic
QRS axis 0 to +90
Possible RAE,
RBBB, 20% WBW
CXR
Boot shaped
(absent PA
segment) : 25% R
sided aortic arch,
cardiomegaly
Prominent
Pulmonary artery
segment,
cardiomegaly
Car diomegaly
Cardiomegaly
Massive
cardiomegaly due
to RAE
Medical Tx
Prostaglandin E1
Prostaglandin E1
Prostaglandin E1
Prostaglandin E1
Tx to decrease
PVR
Surgical Tx
TOF repair or
BPV, if fails valve
RCFA, RV outflow
BAS shunt – Glenn
Tricuspid valve
Cyanotic CHD with Increased PBF
Defect
Simple TGA
Truncus
Arteriosus
TAPVC w/
obstruction
Hypoplastic Left
Heart Syndrome
Anatomy
Aorta to RV, PA to LV
Single arterial trunk
exists from the heart +
VSD
Pulmonary veins not
incorporated in left
atrium, drain in
systemic veins and
obstructed
Underdeveloped
aortic root, aortic
valve, LV and Mitral
valve
PE
Ussualy single S2, no
specific murmur, RV
heave
Ejection click, diastolic
murmur from truncal
regurgitation
Loud P2, RV heave,
gallop
Weak or absent
peripheral pulses ,
shocky, SEM, diffuse
rales, loud single S2
ECG
RVH and RAD
BVH
RVH and RAD
RVH and RAD, 1/3 of
of time decreased LV
forces
CXR
“Egg on a String”
appearance (narrowed
mediastinal shadow,
and cardiomegaly
Right aortic arch 25%
of time, cardiomegaly
Normal heart size with
pulmonary edema,
mimics beta strep
pneumonia
Cardiomegaly and
pulmonary edema
Medical Tx
Prostaglandin E1 +/BAS (palliative)
Inotropes and
diuretics
Intubate +/- PGE1
Prostaglandin E1,
avoid supplemental
O2
Thankyou