Congenital Heart

Disease
 Introduction
◼ CHD are the structural cardiac defects at birth
◼ Incidence – 7-8‰ and 40 – 50% are
diagnosed at birth
◼ Etiology: genetic and environmental factors
Embriology
 V

IV
I

Neural crest cells are migrating at the truncal and bulbar ridge, which grow in a spiral
fashion and fuse to form the aorticopulmonary septum.
II The heart continue to curve, and atria get a posterior and superior position comparing
with ventricles.
Cardiac septation is the next step by formation of a fibrous atrioventricular ring and the
endocardial cushion resulting two channels – right and left.

The next step is the formation of the atrioventricular valve -week 7/8
III
IV
 Frequencies of Congenital Cardiac
Malformations
◼ Ventricular septal defect 42%
◼ Atrial septal defect 10%
◼ Pulmonary stenosis 8%
◼ Patent ductus arteriosus 7%
◼ Tetralogy of Fallot 5%
◼ Coarctation of aorta 5%
◼ Atrioventricular septal defect 4%
◼ Aortic stenosis 4%
◼ Transposition of great arteries 4%
◼ Truncus arteriosus 1%
◼ Total anomalous pulmonary venous connection 1%
◼ Tricuspid atresia1%

Source: Hoffman JIE, Kaplan S: The incidence of congenital heart disease. J Am Coll Cardiol 39:1890, 2002
 Diagnostic
◼ Clinical examination
– Inspection: cyanosis, clubbing fingers
– Palpation: thrill, femoral, radial pulse, liver dimensions
– Auscultation: cardiac, extracardiac
– BP measuring
◼ Investigations
– Radiology
▪ Cardiomegaly: CTI > 0.6
▪ Particular shapes
▪ Pulmonary vascular system
– ECG: RVH, LVH, BVH
– Ecocardiography
 Classification 1
◼ Without cyanosis ◼ Cyanosis
1. ASD 1. TGA
2. VSD 2. HLHS
3. AVSD 3. Tetralogy of Fallot
4. PDA 4. Abnormal pulmonary
5. CoAo connections
6. Cong Mi St 5. Pulmonary atresia
7. Ao St 6. Tricuspid atresia
8. P St 7. Arterial Trunk
9. Endomiocardial 8. Ebstein anomaly
fibroelastosis 9. Univentricular heart
 Classification 2
◼ A physiopathological classification:
– Intra/extracardiac shunts: ASD, VSD, AVSD,
PDA
– Conotrunkal anomalies:
▪ Increased pulmonary flow: TGA, PAT
▪ Decreased pulmonary flow: TOF, TA, PA
– Obstructive lessions:
▪ Left: Mi St, HLHS, Ao S, Co Ao
▪ R: TA, PA
 ASD
◼ Anatomical classification:
◼ blue, ostium secundum defect;
◼ green, ostium primum defect;
◼ red, sinus venosus defects;
◼ yellow, defect of the coronary
sinus.

◼ Hemodinamics
– Left to right shunt – with PHT
with increased vascular
resistance
– Right cavities dilation
ASD – clinical manifestations
◼ Asymptomatic

◼ Repeated respiratory infections (increased

pulmonary flow)

◼ Systolic murmur of low intensity or absent - sweet,

ejection, protomezosistolic maximum in the II-III
intercostal space (relative pulmonary valve
stenosis).

◼ Strong 1st sound

◼ Fixed duplicated 2nd sound
 ASD - paraclinic
◼ Chest – X Rays
– pulmonary hipervascularization

– moderated cardiomegaly (dilatation of the RA, RV, and PA)

◼ ECG
- Right ax deviation + 90/+ 180
- RVH or RBBB with pattern rSR‘ in V1

◼ Eco
- The position and size of the defect
- Evaluation of the ratio Systemic/pulmonary flow
- Right ventricular dilatation
- Abnormal ventricular septum movement.
ASD
ASD
 ASD - management
◼ Spontaneous closure in 40% of cases in the first 4
years of life

◼ The small defects closure rate is > 80% in the first 18

months of life

◼ If the defect is large and it is not closed, complications

can occur:
– Pulmonary hypertension
– Cyanosis
– Heart failure
– Atrial arrhythmias - in the third - fourth decade of life
– Stroke by paradoxical embolism
 ASD - treatment
◼ Medical:
- No need for fluid restriction nor endocarditis prophylaxis
◼ Surgical:
– in all situations where blood flow ratio P/S ≥1.5; at 3-5 years old
– Surgical mortality <1%
– Open heart surgery - closing the hole with a patch of Dacron/Goretex
– CI: elevated PVR (>10 units/m2)
◼ Interventional
Closing by an occluder consisting of two discs, 1.5-2 times the size
of the defect
◼ Complications
- Especially in the sinus venosus atrial septal defect - atrial or nodal
disorders in 7-20%
- Rarely sick sinus syndrome - pacemaker
- Residual shunt especially in the interventional method
VSD
VSD

Prevalence: 20-25%, except for those

included in the cyanotic CHD

Types of VSD

• perimembranous - 70%
• musclular - 5-20%
• subarterial (doubly committed)
VSD - hemodynamics
◼ Shunt left - right which in time
will increase vascular
resistance
with pulmonary hypertension
◼ Hemodynamic consequences
depend on the size of the
defect and pulmonary vascular
resistance and systemic ratio

◼ Dilation and hypertrophy of the

left cavities (LA, LV)

◼ If the shunt is great - PHT -

biventricular hypertrophy, may
reverse the shunt from right to
left
 DSV – clinical findings
◼ LARGE
◼ Delate in growth and
◼ SMALL development occurs early
◼ Normal physical ◼ Frequent respiratory
development, infections, heart failure,
asymptomatic. ◼ Respiratory signs:
tachypnea, dyspnea with
◼ Holosystolic murmur 3- cough, systolic murmur,
5/6, sp IV-V heard throughout the
auscultation, “like a chest area, "the wheel
steam" In 30-50% of spokes"
cases the defect closes ◼ Clinic: shortness of
spontaneously breath, difficulty in
feeding, chest deformity,
sweating, hepatomegaly.
 VSD
◼ Chest X ray
- Cardiomegaly
– Increased pulmonary flow
◼ ECG:
- small VSD: normal
- Moderate VSD: LVH, LAD
- Large VSD: biventricular hypertrophy, LAD
- Pulmonary vascular obstructive disease: RVH
◼ Eco
– The position and size of VSD

– Size of the LA, LV - indirect indicators of shunting

– Doppler signal at the PA level, and tricuspid regurgitation
VSD
Chest x-ray
eco
 VSD management
◼ Spontaneous closure in 30-40% of VSD, most frequently
those small, muscular, and early in life
◼ The large defects tend to become smaller with age
The inlet or infundibular defects do not close
spontaneously nor diminish
◼ CHF occurs in children with large VSD but not before 6-8
weeks of age
◼ Pulmonary vascular obstructive disease start to emerge
at 6 to 12 months of life in patients with large VSD but
reversal of the shunt appears in the second decade of life
◼ Infective endocarditis is rare
 VSD -treatment
◼ Medical
Treatment with digitalis and diuretics for CHF
◼ No effort limitation is necessary in the absence
of PHT
◼ Maintaining good dental hygiene and
prevention of endocarditis
◼ Surgical
Procedures
Palliative - PA banding, rarely – for associated lessions
◼ Direct closure –cardiopulmonary bypass with atrial approach, preferable, than right
ventriculotomy
– Indications and timing
▪ Qp/Qs > 2,
– At 12-18 months in those who respond to medical treatment
– At 2-4 years in asymptomatics
– Having HF or growth deficiency – nonresponsive to medical
treatment even as infants

▪ If the PVR is increasing as soon as possible

– Contraindications: RVP/RVS ≥ 0.5 or vascular obstructive pulmonary disease
with right to left shunt
◼ Postoperatively – cardiac blocks, residual shunt
 Patent Ductus Arteriosus
(PDA)

◼ Ductal closure occurs on the aortic side

because of the higher oxygen tension in
the aorta.
◼ Physiologic closure is evident by about 16
hours of life; however, anatomic closure
may not be complete for 2–3 weeks.
◼ PDA is common in
premature infants;
patency may remain
for some months after
birth.
◼ In the presence of
hypoxia, the DA tends
to remain open – a
continuous
“machinery murmur”
is heard over the DA.
 PDA – clinical manifestations

◼ Asymptomatic – small PDA

◼ Heart failure – large PDA
◼ Continuous murmur: 1-4/6 left
infraclavicular
 PCA
◼ ECG: like VSD
◼ Rx P: like VSD
◼ 2D and Doppler echocardiography– the
magnitude of the shunt, hemodynamic
impact, sPAP
PDA
 PDA - evolution
– Large shunt
▪ HF, recurrent pneumonia, PHT with vascular
obstruction pulmonary disease

– Spontaneous closure - the term newborn -

more frequent (about 30%) if the diameter of
the AD is <2.5 mm in the 3rd day of life
 PDA - treatment
◼ Medical

– In the absence of PHT physical exercises are not forbidden

– Indomethacin, ineffective in term newborn, is effective only in
premature, if taken in the first 10-14 days of life from 0.1 to
0.25 mg/kc/D, 12 hours, 3 doses,
– IV endocarditis prophylaxis

– Large PCA - HF - diuretics, fluid restriction

– Catheterization – device closure: coil, Amplazer - Good results

for PCA diameter <2.5 mm
– Surgical - for PCA> 3 mm - ligation via thoracotomy
posterolaterally without bypass. Surgical mortality <1%
 Amplatzer occluder

◼ A - DSA ◼ C, D – DSV muscular

◼ B - PCA ◼ E, F – DSV excentric
 AVSD
◼ A large left-to-right shunt results in severe
congestive heart failure and pulmonary
hypertensive vascular changes that may
appear in the first year of life.
◼ Conduction abnormalities with left axis
deviation and RV hypertrophy are present.
AVSD may accompany other defects,
including visceral asymmetry and
poly/asplenia syndromes.
 AVSD
◼ 30% of the defects apear in children with Down sd
◼ 2 forms: complet (ASD I, VSD inlet, cleft MiV, cleft
TricV) and partial (without VSD)
◼ Shunt left/right – PHT
◼ Holosystolic murmur 3-4/6
◼ ECG: ax qrs – superior (-40→-150), characteristic,
RVH, LVH, BAV gr I
◼ Chest X-Rays: cardiomegaly+increased vasculary
flow
◼ Echo - dgn
Ecg - avsd
Coarctation of the Aorta
◼ Coarctation may be preductal
or ductal
◼ In the preductal type there is
a tubular hypoplasia of the
aortic arch. Symptoms
become manifest early in
infancy.
◼ The ductal type consists of a
localized constriction of the
aorta in the region of the
closure of the ductus
arteriosus.
◼ Symptoms in this type usually
are delayed until adolescence
or later.
 CoAo - paraclinic
◼ ECG:
– In the first 2 years of life – RVH, RBBB
– After 2 years - LVH
◼ Chest X Rays:
– cardiomegaly, venous congestion
– Collaterals: mamar, intercostal –continuous
murmur
◼ Echo: place, expansion, associated defects
Doppler aspect
in "sawtooth"
RMN
 CoAo Treatment
◼ Medical
– HF: positive inotropics– catecolamins; diuretics, oxygen
– Continuous PEV with PGE1 – for reopening of the duct
◼ Balloon angioplasty – controversial – 50%
recoarct
◼ Stent implantation: bare stent/covered stent (>20
kg)
◼ Surgery:
– Mortality – 5%
◼ Post operator:
– EB prophylaxis
– Reevaluation in 6 months
 Complete Transposition of
Great Vessels (TGA)

◼ Complete TGA accounts for 6% of all CHD

◼ The coronary arteries arise from the
sinuses of the aortic valve and thus receive
blood from the RV, resulting in a
desaturated blood supply and ischemia of
the myocardium.
◼ Severe pulmonary vascular changes occur
in 40% of patients by 1 year of age.
 TGA – “parallel circulations”

◼To be compatible with life there must be an exchange of blood between the
two circulations, through either a patent foramen ovale, an ASD, a VSD, or a
PDA.
TGA
 TGA - clinically

◼ Cyanosis
◼ HF signs (dyspnea, fatigability
◼ Severe hypoxemia non-responsive to
oxygen
 TGA - paraclinic

◼ ECG
– Right ax deviation, RVH.
– If there is a large VSD - signs of LVH
◼ Chest X -Rays
– Cardiomegaly, increased pulmonary flow
– Appearance of "egg lying on the diaphragm"
with a narrowed mediastinum
– Echo – diagnostic – aspect of “two circles”
 TGA - treatment
◼ Medical
- treatment of hypoglicemia/acidosis/hypocalcemia
- PGE1 IV- reopening duct
- oxygen

◼ Interventional

– Septostomie atrial balloon Rashkind

– Treatment with digitalis and diuretics for HF

◼ Surgical
Switch
– atrial - Senning - many post-op complications

– Ventricular - Rastelli

– Arterial - of choice. Complications: IAO, coronary artery disease

Tetralogy of Fallot (TOF)
◼ TOF is the most common form of
cyanotic CHD, asround 10% of all
CHD.
◼ The components of tetralogy are
– Infundibular pulmonic stenosis,
VSD, aortic valve dextroposition,
and RV hypertrophy.
◼ However, it is the result of a single
embryologic defect due to
malalignment with anterior
deviation of the conus
(infundibular) septum, which
creates infundibular narrowing, a
perimembranous VSD, and a
dextroposition with overriding of
the aorta above the VSD.
◼ Associated anomalies include ASD
(pentalogy of Fallot), right aortic
arch, and absence of the DA.
TOF
 Tetralogia Fallot - clinic
◼ Central cyanosis
◼ Hippocratic fingers
◼ Dyspnea, anoxic crises
◼ Systolic murmur, grd 3-5/6 – VSD, P St
◼ Complications:
– Cerebral Abscess, stroke, bacterial
endocardites
 Tetralogia Fallot -
paraclinic
◼ ECG
– RH deviation of the ax, RVH
◼ Rx
◼ A “coeur en sabot” (boot-shaped
heart) appearance due to RV
hypertrophy and an upward tilting
of the LV apex is seen by X-ray.
Decreased pulmonary blood flow
results in the clear appearance of
the chest radiograph because of
decreased vascular markings.
◼ Right aortic arch in 25% of the
cases
◼ Echo: dgn
 Tetralogia Fallot - treatment
◼ Medical
– Anoxic crises – morphine, propranolol, oxygen, position
– Propranolol po, 2-4 mg/kg/day
– Bacterial endocarditis prophylaxis
– Treatment of the iron deficiency
◼ Surgical
– Palliative procedures - systemic-pulmonary
shunts - Blalock Taussig (anastomosis between
the subclavian artery and ipsilateral pulmonary
artery)
– Correction - usually at 3-4
months/asymptomatic - 3-24 months
VSD Closure with Patch, infundibular P St
resection/widening
CAT
Pulmonary atresia with VSD
Tricuspid Valve Atresia
Hypoplastic Left Heart
Complex
Interrupted Aortic Arch
ABNORMALITIES OF POSITION
AND SITUS
◼ Dextroposition
describes a heart
displaced to the right
side of the thorax with
a left-sided apex
◼ Dextrocardia implies
that the heart is
located in the right
chest with a right-sided
apex.
Asplenia syndrome (right atrial
isomerism)
Polysplenia (left atrial isomerism)
 PERSISTENT LEFT SUPERIOR
VENA CAVA (PLSVC)
◼ This can be an
isolated condition or
associated with
poly/asplenia
◼ When present it
drains into the
coronary sinus, which
is large and dilated.
ECTOPIA CORDIS

◼ The heart is located

partially or totally outside
the chest
◼ Thoracoabdominal or
abdominal ectopia is
associated with a defect
in the lower sternum,
diaphragm, and
abdominal wall with
omphalocele and heart
defects (pentalogy of
Cantrell)
VASCULAR RINGS
◼ These include
– double aortic arch due
to persistence of the
right 4th branched
arch
– an anomalous right
subclavian artery
vessel coursing behind
the trachea and
esophagus