Transcript CONGENITAL HEART DISEASES (CHD)

Congenital heart diseases
• These are abnormalities in the
cardiocirculatory structures or function that
are present at birth , even if it is discovered
later.
• Incidence
0.8% in normal population.
2-6% in 2nd pregnancy after birth of 1st child
with CHD.
20-30%
if 2 other siblings have CHD.
Etiology
• Multifactorial : genetic , enviromental
Genetic :
1. Chromosomal anomalies ( Turner, Trisomies 18,21).
2. Supracristal VSD in Asian.
3. Increase incidence if 1st degree relative affected.
4. Chromosomal deletion ( chr. 22q11….. DiGeorge
syndrome ).
5. Cardiomyopathy.
6. Heritable arrhythmias
Enviromental :
• Maternal DM
• Phenylketonuria
• Congenital rubella
• SLE
• Drugs (Lithium, ethanol, warferin, thalidomide,
antimetabolites, anticonvulsants)
classification
Acyanotic CHD:
a .Ventricular septal defects (VSD) 25%
b .Atrial septal defects (ASD) 10%
volvme
c. Patent ductus arteriosus (PDA) 10% load Lf
d. Pulmonary stenosis 10%
e. Coarctation of the aorta 8%
f.Aortal stenosis 6%
pressure
load
Cyanotic heart disease
With pulmonary blood
flow
1.
2.
3.
4.
5.
TOF
P. ATRESIA +/- VSD
TRICUSPID ATRESIA
DORV+ PS
EBSTEIN ANOMALY OF
TV
With
pulmonary
blood flow
1. TGA
2. Total anomalous
pulmonary venous
return
3. Truncus arteriosus
4. Single ventricle
5. Hypoplastic Lt. heart
syndrome
VENTRICULAR SEPTAL DEFECT (VSD)
The most common CHD
Anatomically classified into:
1-membranous VSD 80%
2-Muscular VSD 5%
3-Inlet VSD 5%
Hemodynamically (functionally): classified into:
1- Small VSD (small Lt.-Rt. Shunt)
2-Moderate VSD
3-Large VSD
Ventriculoseptal Defect
pathophysiology
Lt
Rt shunt depend on :
1-Size ( restrictive & large non restrictive )
2-qp : qs ratio :(pulmonary to systmic blood flow)
Small < 1.75:1
Large > 2:1
• 'When a small communication is present (usually
<0.5 cm2), the VSD is called restrictive and right
ventricular pressure is normal.
• In large nonrestrictive VSDs (usually >1.0 cm2),
right and left ventricular pressure is equalized.
The functional disturbance caused by VSD magnitude of
the L-R shunt depends on: size of VSD & degree of
pulmonary vascular resistance not on the site of VSD.
In large VSD
there is no resistance to the flow, so there is large shunt
and there will be progressive increase in right ventricular
(RV) & pulmonary artery pressure, as a result of
increase of the pulmonary vascular resistance which
causes reverse shunt Rt-Lt. (Eisenmenger syndrome)
which is irreversible
In small VSD
there is high resistance to the flow through the VSD so
there is small Lt.-Rt Shunt and the pressure is normal in
RV and pulmonary artery (PA).
Clincal features
Small VSD
1-Most common.
2-Asymptomatic .
3-Dx during routine examination .
4-Harsh , blowing holosystolic murmur .
5-Immediately in neonatal period Lt to
Rt shunt minimal lead to that the
murmur may not be heard .
6-In premature the murmur heard earlier
.
Large VSD
• Dyspnea ,feeding difficulty , poor growth , profuse
sweeting recurrent pulmonary infection .
• Cyanosis usually absent , but duskiness specially during
infection.
O/E:
1-Palpable parasternal lift .
2-Lateral displaced impulse .
3-Systolic thrill .
4-Holosystolic murmur less harsh.
5-Pulmonary component of 2nd heart sounds increased .
6-Mid diastolic rumbling murmur increased at apex
=qp;qs ratio 2:1.
DIAGNOSIS:
1. ECG:
a.small VSD -> normal ECG
b.large VSD -> biventricular hypertrophy
2.CXR.:
a.small VSD -> normal
b.large VSD -> cardiomegaly, dilated pulmonary
vessels (plethoric lung)
3. Echo:
two-dimensional and doppler echo must be done in
all patients to determine the following:
a. Size
b. Anatomical location
c. Size & direction of intracardiac shunt
d. The degree of pulmonary hypertension
e. Present of associated lesion (as TOF)
4-Catheterization & angiography:
a small number of patients with VSD requires cath. (because
echo is more sensitive & more specific).
a Provide a clear anatomical picture of the location and no. of
VSD in patients when surgery is required
b.Estimation of magnitude of the shunt & pulmonary vascular
resistance (to know if the patient is still operable or not).
c .Close some muscular VSDs with catheter derived devices.
Prognosis and natural history
Course depends on the size :
• Small VSD ( 30-50%) close spontaneously frequently
during 1st 2 years of life
 Muscular 80%.
 Membranous 35%
• Small
asymptomatic
if unoperated
long
term sequalies (arrythmia , subaortic stenosis , exercise
intolerance ).
• Large vsd less likely to close spontaneously . 8% may
close completely . repeated infection , repeated HF,FTT.
Large VSD: most patients need surgical repair, in the 1st
year of life,
Without surgical repair, most patients will develop
pulmonary hypertension
and some reach to Eisenmenger syndrome (10%),
but 5% wall develop infundibular & pulmonary
stenosis.
• Those with supracristal VSD at risk
for aortic regurgitation.
• Small % acquired infandibular
pulmonary stenosis
protect
pulmonary circulation from over
circulaion .
• There is risk of infective
endocarditis irrespective of defect
size.
Treatment
Small VSD
1-Reassured the parents .
2-Encouraged patient to have normal life ,
no restriction of physical activity.
3-Surgical repair not encouraged .
4-Protect against IE with AB.
5-Can monitor the patient with
1. Clinical
examination
2. ECG for evide
of PH
3. Echo
Large VSD
Medical Rx:
To control HF and prevent development
of PH and tx of resp. infection
nutritional support prophylaxis SBE
Surgical repair: either pulmonary arty
banding or total surgical repaire
Indications
1-Any age with large defects in whom clinical
features and failure to thrive can’t be
controlled medically
2-Infants between 6-12 months with large
defects associated with PH even if symptoms
controlled by medical Rx.
3- more thane 24 months old age and qp:qs >
2:1.
4-Patient with supracristal VSD of any size
because of risk of development of aortic
regurgitation.
Catheterization based tx;most muscular VSD
and some membranous can closed by
devices place during cath.
ATRIAL SEPTAL DEFECT (ASD)
an opening in the intra-atrial septum other than patent
foramen ovale more
common in females; F:M ratio is 3:1.
It has 3 types:
1-Primum ASD (in lower part) 10%
2-Secondum ASD (in the middle) 80%
3-Sinus venosus (in the upper part) 10%
HEMODYNAMIC EFFECT: There will be chronic Lt-Rt. Shunt
which causes volume overload on the Rt. Sided cardiac
structures & result in their dilatation & increase of
pulmonary blood flow.
ATRIAL SEPTAL DEFECT
Clinical features
• Most often asymptomatic.
• In younger children may cause subtle FTT.
• In older children lead to exercise intolerance .
O/E:
• Mild Lt precordial bulge.
• Loud 1st heart sound.
• 2nd heart sound split widely and fixedly.
• Systolic ejection murmur.
• Short rumbling mid – diastolic murmur with the
bell of the stethoscope =qp:qs at least 2:1.
DX:
A.CXR
• Cardiomegaly of RV configuration
• Round apex peak
• Increase pulmonary marking
B. ECG:
• Right axis deviation (RAD)
• Incomplete RBBB
• Peaked P-wave (RA enlargement)
C- Echo: Trans-thoracic & trans-esophageal echocardiography is
essential for Dx.
D. Cardiac Catheterization: Not essential for Dx, indicated in:
Therapeutic aim & 'Exclude associated cardiac anomaly .
Natural history
ASD is a benign lesion Rarely causes heart failure or pulmonary
hypertension in the 1st decade of life
Rarely complicated by infective endocarditis
Rarely closed spontaneously after infancy
Treatment
• If patient Symptomatic or has qp :qs ratio at least
2:1
• Then the treatment is
1.Surgery
2.Transcatheter device closure
• The surgery done after 1 yr. of age and before
enterance to school.
Atrial septal defect
Prognosis
• May close spontaneously during infant .
• Mau be tolerated during childhood .
• Symptoms not appear until 3rd decade or later
and late menifestation is
1. PH
2. Atria dysarrhythmias
3. Mitral or tricuspid insufficiency
4. HF
• Infective endocarditis rare and need no
prophylaxis with AB.
Atriovantricular septal defect(endocardial cushion
defect)
It is agroup of anomalies sharing adefect at the site
atrioventricular septum And abnormality in the atrioventricular
valve.
Common in downs syndrom,so all patients with downs syndrom
should Have cardiac evaluation if symptomatic or before 6
months of age
Equal no. of male and females are affected
CLASSIFICATION:
1-Partial: ASD primum, clefted mitral valve .intact VSD
2-Complete: ASD primum, large inlet VSD,
common single atrioventricular valve.
C/F:
1- Partial: either asymptomatic (mainly) or mild
symptoms. O/E: ASD murmur of mitral
regurgitation.
2. Complete: as the above with heart failure and/or
pulmonary vascular disease.
pathophysiology
•
•
•
•
OP: Lt
Rt. Shunt .
Mitral insufficiency.
PA pressure normal .
C/F of ASD.
• AVSD : Lt
Rt shunt at atrial + ventricular level.
• Valvular insuffiency
volume load on one or both
ventricles.
• pulmonary vascular resistance
Rt
Lt shunt
cyanosis.
Diagnosis
1. CXR : marked cardiac enlargement ,
pulmonary vascularity , PA enlargement.
2. ECG: Rt axis deviation of
QRS,RBBB,RVH.
3. ECHO : RV enlargement , septal
deficiency .
4. CATHE.
5. Selective LV ventriculography.
Treatment
• OP : surgical correction .
• Complete AVSD : risk of PHPT during 1st
6-12 mo.
surgery in early infancy
• Some time do pulmonary banding if too
small baby or associated with deformity
that make surgery risky.
NATURAL HISTORY:
• It depends on the size of various atrial and ventricular
defects and the amount of mitral regurgitation.
• The ostium primum ASD with no mitral regurgitation has
the same benign natural history of simple secondum ASD,
but with complete AV-canal defect, heart failure and/or
pulmonary vascular disease may occur.
PATENT DUCTUS ARTERIOSUS (PDA)
It is a channel that connect the pulmonary artery
with the descending aorta (isthumus part). It
results from the persistence of patency of the
fetal ductus arteriosus after birth.
It is the most common lesion in infant of mothers
with congenital rubella, PDA more common in
females.
Patent ductus arteriosus
• Normally functional closure of ductus
arteriosus occurs at 10-15 hr after birth .
If it persist opened after pulmonary
vascular resistance falls leads to aortic
blood shunts to pulmonary artery.
• More common in female
• Aortic side ( distal to the origin of lt
subclavian art.)
• Pulmonary side ( at the bifurication )
Why it is not closed ?
• Premature ( normal structure ) due to
hypoxia and immaturity .
• In term baby
have structural
abnormality.
• In term baby if persist beyond 1st few
weeks
means not closed
spontaneously.
• Most of cases in premature
closed spontaneously.
• 10% associated with other CHD.
Pathophysiology
Lt
Rt shunt depends
Size of defect
Ratio of pulmonary : systemic
vascular resistance
Clinical features
Small
• Asymptomatic .
• Heart size may
be abnormal
•
•
•
•
•
•
•
•
Large
Hf , growth
retardation
Bounding peripheral
pulse
Wide pulse pressure
Large heart
Apical impulse
prominent
Thrill
Machinery murmur
Mid-diastolic murmur
at apex
DIAGNOSIS:
ECG: In small PDA, it is normal, but large PDA, there is normal
axis deviation, left ventricular hypertrophy (LVH) or
biventricular hypertrophy.
Chest X-ray: Cardiomegaly, plethoric lung, and prominent
pulmonary conus.
treatment
• Closure irrespective of age .
• Endomethacin is often effective in
closing the PDA in the premature
neonate by decreasing PGE1 levels.
• Closure by :
1. Thoracoscopic ( postoperative
discomfort and scarring ) .
2. Transcatheter :
Small
coil.
Large
sac in which several coils
released or umberella –like device .
Thank you
Coarctation of aorta
• Constriction that occur at any portion of aorta
from transverse arch to the iliac
bifurication.more in male afeatures of turner
Pathophysiology :
2 types
• Juxtaductal ( if mild
adult type) 98% just
below origin of lt subclavian art.
• Tubular hypoplastic ( infantile type ) .
• If more severe juxtaductal or tubularhypoplastic
blood pass through ductus arteriosus
decsending aorta
if closed
diffrential
cyanosis ( lower blue extremities and upper pink
extremities ).
In COA:
• blood pressure in area proximal to
coarctation
( mechanical and hormonal )
•
blood pressure distal to the
coarctation.
• Development of collaterals from
subcalvian , internal mamery ,
superior intercostal .
Clincal features
• If mild and Dx after infancy
rarely
significant symptoms and most diagnosed
by
blood pressure with routine physical
examination.
Signs :
• Pulses of UL and LL.
• Radio-femoral delay.
• Blood pressure in both UL and LL.
• Blood pressure in each arm.
• Ejection systolic click + thrill.
• Systolic murmur in 3rd , 4th Lt sternal
border .
• Mid-diastolic murmur.
• Systolic murmur of aortic stenosis
In neonatal period
• Lt body hypoperfusion, acidosis, HF .
• Before ductal closure
differential cynosis.
Diagnosis
1.
2.
3.
4.
5.
CXR
ECG
ECHO
COLOR DOPPLER
CONTINOUS AND PULSED WAVE
DOPPLER
6. CATHETRAIZATION + LT
VENTRICULOGRAPHY
7. MRI used in dx due to difficulty in infancy
Complications
1. Untreated
succumb at 20-40 yr.
1. Premature coronary arterey
disease
2. HF
3. ICH
4. Hypertensive encephalopathy
2. Complications secondary to
3. IE, Endarteritis
4. Aneuryzms of the descending aorta or
collaterals.
5. Neonates : hypoperfusion + HF
Treatment
1. In neonate
PGE1
reopen
ductus and relieve obstruction
stabilize him
surgery.
2. Older children
HF
antifailure
surgery
3. Surgery:
• Excision and primary re-anastamosis
• Subclavian flap.
• Patch aortoplasty.
Pulmonary stenosis
Pulmonary stenosis divided anatomically into :
1. Vulvular ( most common ) .90%
2. Supravalvular .
3. Subvalvular.
Pathophysiology
• Obstruction
Rt. Ventricular pressure
during systole
wall stress
severe
cases
RVH.
• Pulmonary art. Pressure normal or
.
• Arterial O2 normal unless VSD or ASD.
• Critical pulmonic stenosis in neonate shunt at
the foramen ovale
Clinical features
According to severity
1. Mild : asymptomatic , normal venous
pressure , ejection click after 1st heart
sound , 2nd heart sounds split , short
ejection systolic murmur in pulmornary
area .
ECG: normal or mild RVH.
CXR: poststenotic pulmonary arterial
dilatation.
ECHO: pr.gradient usually 10-30mmHg
2. Moderate : slightly elevated venous pr. ,
prominent a – wave in jugular pulse, 2nd
heart sound split , ejection click,
ejection systolic murmur
CXR: normal or pulm.vascularity .
ECG: RVH, spiked p-wave.
ECHO: thickened valve , pr.gradient 3060 mmHg.
.
3. Severe: Rt.sided failure, hepatic
enlargment, periphral edema , venous pr.
a-wave , heart enlarged , inaudible
pulmonary component of 2nd heart sound ,
ejection systolic murmur and thrill , no
click.
CXR: enlarged heart + pulmonary
vascularity.
ECG: RVH, spiked p-wave.
ECHO: valve deformity, RVH.,pr.gradient
≥ 60 mmHg
Treatment
1. Mild
reassurance .
2. Moderate or severe
balloon
valvuloplasty .
3. Critical pulmonic stenosis
valvuloplasy
or surgery.valvutomy
Tetralogy
of Fallot
It is the commonest cyanotic
heart disease in children , it’s a
combination of :• Right ventricular outflow
obstruction(pulmonary stenosis)
• VSD
• Dextroposition of aorta with override
of ventricular septum.
• Right ventricular hypertrophy.
• RV outflow obstruction : various sites ,
but most common is infandibular site .
• VSD
large , non obstructive .
• Overriding of aorta ( right sided in 20%
).
Clinical features
• Time of onset of symptoms
• Severity of cyanosis
• RV hypertrophy
Depend of the
degree of right
ventricular outflow
obstruction
• If mild
initially heart failure
with
age , patient grows
infandibular hypertrophy
cyanosis develops in 1st year of life .
• If severe obstruction
cyanosis
develops immediately after birth .
• In older children , long standing
dusky blue skin, grey sclera, engorged
blood vessels, clubing of fingers &
extracardiac manifestation.
• Dyspnea on exertion
so they stop
to take rest or have squatting position.
• Growth retardation ( if severe and
untreated ) .
• Delayed puberty .
O/E
• Pulse normal
• Venous and arterial pressure normal .
• Heart size normal .
• Lt. hemithorax bulged because of RVH.
• Murmur , ejection systolic because of
RV outflow obstruction .
• Murmur can be holosystolic due to VSD.
• The intensity of murmur during spells .
• Sometimes continuous murmur due to
collaterals.
Diagnosis
1. CXR : boat shaped heart , clear lung field
, 20 % right sided aorta .
2. ECG : RVH , right axis deviation .
3. ECHO
4. Cardiac cathetarization .
5. Selective right ventriculography :
important for child as surgical candidate .
6. Lt. ventriculography .
7. Coronary angiography .
Complications
1. Cyanotic spells
2. Cerebral thrombosis
3. Brain abcess
4. Infective endocarditis
5. Heart failure
Cyanotic spell
• Usually at 4-6 mo.
• Patient restless , cyanosed , gasping ,
syncop follows .
• Mainly after awakening or vigorous
exercise .
• intensity of the murmur.
• Continued for few min.-few hrs .
• Followed by generalized weakness ,
sleep.
Treatment of spell
1. Put him on abdomen , knee-chest position.
2. O2 .
3. Morphine ( 0.2mg/kg s.c )
infandibulum and sedate child .
relaxe pulmonary
4. Premature attempts to get blood sample
agitation.
5. If severe
6. If still resistant
methoxantheme to
and
Rt.
NaHCO3 to correct acidosis .
phenylephrine or
systemic vascular resistance
Lt shunt .
Treatment
Medical :
1. If severe obstruction
medical Rx
until surgical intervention.
2. Include
3. Provide O2 , maintain body temperature .
4. Treat and prevent hypoglycemia .
5. Start PGE1 infusion
6. If less severe obstruction and while await
for the surgery observe for the
following:
•
•
•
•
Rx dehydration.
Rx iron deficiency anemia .
Inderal 0.5-1 mg/kg 6hr.
Phlebotomy if symptomatic patient and
hematocrite > 65%.
Surgical Rx.
• 2 options :
• Time : 4-12 mo.
palliative
corrective
Palliative surgery
• Modified Blalock – Taussing shunt , which
a conduit from subclavian artery to
homolateral branch of pulmonary art. or
directly from ascending art. To main
pulmonary artery .
• Response
cyanosis , continuous
murmur heard from functioning
anastomosis .
• With increasing age
need for more
pulmonary blood flow
do
corrective surgery or reanastomose on
the opposite site
Transposition of great vessels
• CCHD with
pulmonary blood flow .
• Either d-TGA or l-TGA.
• Either with intact VS or VSD.
• Male > female .
• 50% with VSD .
• For d- TGA
aorta arises from RV
and pulmonary art. From LV .
• Aorta anterior and to the right of
pulmonary art.
• C/F: cyanosis & tachycardia .
HF less common
if untreated
not survive
neonatal period .
Dx
• ECG
Rt. Sided dominance
pattern.
• CXR
mild cardiomegaly.
• Hyperoxia test.
• ECHO.
• CATHETRIZATION.
Treatment
• Infusion of PGE1
• Protect against hypothermia , Rx
acidosis & hypoglycemia .
• If no response
Rashkind Balloon
septostomy
then arterial switch
operation ( Jantene operation ) within 2
wks.
• If TGA&VSD
do Rashkind
operation.
Extracardiac manifestation of CCHD.
1. Polycythemia .
2. Relative anemia .
3. CNS abcess.
4. CNS thromboembolic stroke.
5. Low grade DIC , thrombocytopenia.
6. Hemoptysis .
7. Gum disease .
8. Gout .
9. Arthropathy , COF.
10.Infection .
11.Pregnancy complications .
12.FTT.
13.Psychosicial problems .
Thank you
TETRALOGY OF FALLOT
(TOF)
• It is the commonest cyanotic congenital heart disease in
children and adults
It is a combination of:
• 1-VSD
• 2-Pulmonary stenosis (PS).
• 3-Overriding of aorta.
• 4-Right ventricular hypertrophy (RVH).
• HEMODYNAMICS: The degree of right ventricular outflow
obstruction (i.e. P.S.) determines the degree of pulmonary
blood flow and the severity of cyanosis.
C/F:
1-Cyanosis: most patients develop cyanosis in the first 6 month 1 year of life.
2-Dyspnoea: occurs in exertion, so they have a limited exercise
tolerance.
3-Squatting: it is the characteristic posture of children with TOF
after any physical effort.
Q/E:
1-Cyanosis (central and peripheral).
2-Clubbing (usually after 3 months of age).
3-Single S2 & ejection systolic murmur at the left sternal border.
4-Normal pulse & quiet procardium.
INVESTIGATION:
ECG: Right axis deviation (RAD) & right ventricular hypertrophy
CXR:
1-Normal heart size.
2-Rounded apex situated above the diaphragm (hypertrophied
RV).
3-Concavity at the main pulmonary artery area.
4-Reduced pulmonary vascularity (oligemic lung).
The classical radiological picture of TOF is called (boot shape).
Echo: It is essential for Dx.
Catheterization: Gives the definitive Dx and as a preoperative
step.
COMPLICATIONS:
1-Hypercyanotic spells.
2-Cerebrovascular accidents (CVA).
3-Cerebral abscess.
4-Infective endocarditis.
5-Haematological complications include bleeding and
thrombosis. All complications are essentially due to
cyanosis & polycythemia.
6- Polycythemia is due to hypoxia which results from
right to left shunt (as the right pressure grows higher
than the left one).
• RX:
• 1. Medical:
• a. Rx of anemia by iron, sometimes considered as relative
anemia if we
find normal Hb level; also nutritional support.
• b. Phlebotomy: in symptomatic patients with hematocrit more
than 65%
(as there is a risk for CVA).
• 2. Surgical:
• a. Palliative to  pulmonary blood flow e.g.:
Blalock-Taussig shunt (BT shunt).
• b. Total surgical repair.
• Indications for surgery:
• 1-Cyanosis
2-Hypecyanotic spells
• 3-Polycythemia
• 4-↓ exercise tolerance
• 5-Appropriate age and weight (usually
between 2-3 years, if there is cyanosis).
HYPER.CYANOTIC SPELLS:
Attacks of increasing cyanosis associated with abnormal
respiration and altered level of consciousness and it
is an important cause of death in TOF patients
(especially in mild cyanosis)
.
Spells are particular problems during the 1st 2 years of
life and is more common in the morning and can be
precipitated by any activity. Most spells are selflimited, but should be considered as an indication for
surgery.
The cause is infundibular spasm.
•
•
•
•
RX:
1-Knee-chest position.
2-O2.
3-Sodium bicarbonate to correct metabolic
acidosis.
• 4-Morphine: 0.2 mg/Kg subcutaneously (s.c.)
or i.v. can be repated 4 hourly.