3. Definition and Etiology
defect in structure of heart and great vessels
present at birth
arise first 10 weeks of embryonic development
incidence is 1 out of 120 live births
2 to 3% risk in children with affected 1st degree
relative
5% have chromosomal abnormalities
other etiology maternal illnesses such as
diabetes, SLE, rubella and environmental exposure
EtOH
4. Classification
Acyanotic Cyanotic
Right-to-left
left-to-right
deoxygenated
oxygenated blood venous blood
shunted to right shunted to left heart
heart reducing systemic
arterial O2
usually
saturation
asymptomatic
unless a large if >5g/dL
deoxygenated
defect Hb, cyanosis results
6. Cyanotic
Right-to-Left shunt
Tetralogy of Fallot
Transposition of the Great Arteries
Tricuspid Atresia
Pulmonary Atresia
Hypoplastic Left Heart Syndrome
Persistent Truncus Arteriosus
Total Anomalous Pulmonary Venous Return
7. Signs and Symptoms
Acyanotic
High pressure shunts (ventricular or great artery
level) become apparent several days to a few
weeks after birth
Low pressure shunts (atrial) become apparent
much later
Can lead to volume overload Heart failure
failure to thrive
Large shunts decrease lung compliance
frequent lower respiratory tract infections
Murmurs and location are diagnostic
8. Signs and Symptoms
Cyanotic
Cyanosis characterized by bluish
discolouration of mucous membranes or
nail beds, clubbing of nail beds or pulse
oximetry <93 to 95%
Murmur audible but not specific
Obstructive
Pressure overload proximal to obstruction
ventricular hypertrophy and Heart Failure
9. Signs and Symptoms
Heart Failure
Cardiac output is insufficient to meet metabolic
needs or when heart cannot adequately
handle venous return pulmonary congestion
Tachycardia, Tachypnea, Dyspnea with feeding
(inadequate intake poor
growth), Diaphoresis, Restlessness, Irritability
Infants may present with periorbital edema
instead f distended neck veins and dependent
edema
11. Treatment
First: medical stabilization in setting of heart
failure or cyanosis
Neonate
Secure vascular access (preferably umbilical
venous catheter)
Medical tx. For HF:
Diurectics – furosemide/ethacrynic acid
Bolus 1mg/kg an titrated based on urine output
Inotropic drugs – dopamine/dobutamine
5 to 15ug/kg/min
Decrease afterload – milrinone/nitroprusside
12. Treatment
Infusion of prostaglandins E1
0.05 to 0.1ug/kg/min
Most cardiac lesions at this age are ductal
dependent for systemic blood flow (obstructive)
or for pulmonary blood flow (cyanotic)
HF in older infants and children
Standard approaches to acute and chronic HF
similar to adults
Diurectics – furosemide
0.5 to 1.0mg/kg IV or 1 to 3mg/kg PO
ACE inhibitors, Digoxin, Salt Restriction
13. Treatment
Oral Digoxin Dosage in Children
Age Total Digitalizing Dose† (μg/kg) Maintenance Dose‡ (μg/kg bid)
Preterm neonates 20 2.5
Term neonates 30 5
1 mo–2 yr 30–50 5–6
2–5 yr 30–40 4–5
6–10 yr 20–35 2.5–4
> 10 yr§ 10–15 1.25–2.5
14. Treatment
Guidelines of American Heart Association
for prevention of endocarditis
antibiotic prophylaxis is required for children with
congenital heart disease who have the following:
Unrepaired cyanotic CHD
Completely repaired CHD during the first 6 months after
surgery if prosthetic material or a device was used
Repaired CHD with residual defects at or adjacent to the
site of prosthetic patch or prosthetic device
17. Atrial Septal Defects
6-10% of CHD cases
Most cases isolated and sporadic; some with
genetic syndrome such as Holt-Oram
syndrome
opening in the interatrial septum causing left
to right shunt and volume overload of right
atrium and right ventricle
usually asymptomatic but long-term
complications after 20 years of age include
pulmonary HTN, HF, and atrial arrhythmias.
18. Atrial Septal Defects
adults and rarely, adolescents, may
present with exercise
intolerance, dyspnea, fatigue
-soft midsystolic murmur at upper left
sternal border with prominent split of S2 is
common (fixed split)
19. Atrial Septal Defects
Classification: By location
Ostium Secundum
defect in fossa ovalis, located in the center part of
septum
Sinus Venosus
defect in posterior aspect of the septum near
superior vena cava or inferior vena cava
frequently associated with anomalous return of
the right upper or lower pulmonary veins to the
right atrium or vena cava
Ostium Primum
defect in the anteroinferior aspect of the septum,
a form of endocardial cushion defect
20. Atrial Septal Defects
Specific Treatment
Small shunt
Observation with periodic echocardiography
most small (<3mm) close spontaneously
Mod/Large shunt
3-8mm close spontaneously by 18 months.
Transcatheter closure or surgical repair
if pulmonary flow:systemic flow ratio > 1.5:1 or
evidence of right ventricular volume overload
close ASD between ages 2 to 6.
Ostium primum and sinus venosus ASDs do not
close spontaneously
22. Ventricular Septal Defects
20% of all cases, second most common
congenital heart anomaly
opening in interventricular septum
harsh holosystolic murmur at lower left
sternal border with normal split and non
hyperactive precordium
23. Ventricular Septal Defects
Classification: By location
Perimembranous (70-80%)
defect in membranous septum adjacent to the tricuspid valve and
extend into surrounding muscular tissue, commonly occurring
immediately below the aortic valve.
Trabecular muscular (5-20%)
completely surrounded by muscular tissue and may occur anywhere
in the se0ptum
Subpulmonary outlet (5-7% in US; 30% in Eastern world)
occur immediately under the pulmonary valve
also referred to as supracristal or doubly committed subarterial
defects
frequently associated with aortic leaflet prolapse into the defect;
causing aortic regurgitation
Inlet (5-8%)
bordered superiorly by the tricuspid annulus and are located
posterior to the membranous septum. Also referred to as
atrioventricular septal-type defects
24. Ventricular Septal Defects
typically asymptomatic; those with larger
defects have HF symptoms appearing at age
4 and 6 weeks when pulmonary vascular
resistance falls
Larger defect chest x-ray shows
cardiomegaly, increased pulmonary vascular
markings
ECG may also show right ventricular
hypertrophy and occasionally left atrial
enlargement
25. Ventricular Septal Defects
Specific Treatment
Small VSDs
Observation
mainly muscular and often close spontaneously
during the first few years of life
Large VSDs
Medical therapy if sx. of HF
Surgical repair in first few months of life
In asymptomatic patients with large shunt
(pulmonary flow:systemic flow ratio > 2:1) that
persists after 2 to 4 years require surgical repair
27. Patent Ductus Arteriosus
5-10% of CHD cases
male:female ratio 1:3
common in premature infants 45% with birth
weight <1750g and 80% in birth weight <1200g
persistent ductus arteriosus between the aorta
and pulmonary artery after birth; normally closes
at birth with rise in PaO2 and decline in
prostaglandins within 10 to 15 hours of life
can cause HF in 15% of premature infants with
birth weight <1700g and 40-50% with <1500g
generally asymptomatic but with large PDA
HF, distress, apnea, worsening mechanical
ventilation
28. Patent Ductus Arteriosus
Children with PDA
normal heart sounds
Full term infant with PDA
bounding peripheral pulses with a wide pulse
pressure
continuous murmur at upper left sternal border
Premature infants with a significant PDA
have bounding pulses with hyperdynamic
precordium and a continuous murmur at
pulmonic area
29. Patent Ductus Arteriosus
Specific Treatment
Indomethacin with or without fluid
restriction may be tried in premature
infants
Therapy is not effective in term infants or
older children and need surgical or
catheter-based correction
31. Atrioventricular Septal Defect
5% of CHD cases
Consist of primum type atrial septal
defect with AV valve malformation, with
or without a ventricular septal defect
Maldevelopment of endocardial cushion
Asymptomatic if small; large may cause
HF and HF sx.
Common in heterotaxy syndromes
(asplenia or polysplenia)
32. Atrioventricular Septal Defect
Two types:
Complete
30% have Down Syndrome
Large ostium primum ASD (at anteroinferior aspect of
septum), an inlet VSD, and AV valve orifice.
Enlargement of all four chambers
Hemodynamics of large VSD
Partial
Ostium primum ASD, partitioning of the common AV
valve into two separate AV orifices, and a cleft in the
mitral valve; VSD is not present or small
Hemodynamics of ostium secundum ASD with variable
mitral regurgitation
33. Atrioventricular Septal Defect
Specific Treatment:
Medical treatment before surgery if HF
Complete AV septal defects
Should be repaired by age 2 to 4 months due to
HF and failure to thrive
If infant is growing well without significant
sx., repair should be done before 6 months
(prevent pulmonary vascular disease, especially
in Down syndrome)
Partial AV septal defects
If asx. Elective surgery is done at age 1 to 3 years
