Congenital heart

disease
DR. YANTI SUSIANTI SP.A(K)
FRIDAY, 6TH APRIL 2018
CARDIOVASCULAR SYSTEM MODUL
Congenital Heart Disease
(CHD)
CHD occurs in 1/125 live births
Most common birth defect
Occur during th 1st 8 weeks of fetal development
Moajority have no known causes
Innocent Murmurs
Diastolic murmurs are never innocent
Innocent murmurs are present in at least 50 % of normal children
◦ Still’s murmur : low pitched, vibratory, systolic ejection, increases with the
supine position.
◦ Venous hum: continuous murmur in supraclavicular region, reduces on lying
down or with pressure on neck.
Factors contributing to CHD
85-90% of cases, there is no identificable cause for the heart defect 
generally considered to be caused by multifactorial inheritance
Factors are usually both genetic and environment where a combination
of genes from both parents, in addition to unknown environmental
factors, produce the trait or condition
 ...factors contributing to CHD
Maternal factors
Family history
Chromosome abnormality
Maternal factors
Seizure disorders with intake of anti-sizure medications
Intake of lithium for depression
Uncontrolled IDDM
Lupus
German measles (Rubella)- 1st trimester of pregnancy
Family history
Risk increases when either parent has CHD, or when another sibling was
born with CHD
If you have had one child with CHD, the chance that another child will
be born with CHD ranges from 1,5 to 5%, depending on the type of CHD
in the first child
 ...family history
If you have had 2 children with CHD, then the risk ↑ to 5 to 10%, to
have another child with CHD
If the mother has CHD, the risk for a child to be born with CHD ranges
from 2,8 to 18%, with an average risk of 6,7%.
Chromosome abnormalities
5 to 8% of all babies with CHD have a chromosome abnormality
Includes Dows syndrome, trisomy 18 and trisomy 13, Turner’s
syndrome, Cri du chat syndrome
Fetal circulation
Blood flows from the placenta
Inferior vena cava  right atrium
 through the foramen ovale 
left atrium  left ventricle 
ascending aorta  head and
upper extremities  returns via
the superior vena cava
...fetal circulation
From superior vena cava  right
atrium  right ventricle 
pulmonal artery  through the
patent ductus arteriosus 
descending aorta  lower
extremities and placenta
Fetal circulation
Only a very small amount of blood
is directed through the right and
left pulmonary arteries to the
lungs
Blood circulation after birth
The transformation from fetal to neonatal circulation involves two
major changes:
◦ A marked increase in systemic resistance caused by loss of the low-resistance
placenta
◦ A marked decrease in pulmonary resistance caused by pulmonary artery
dilatation with the neonate’s first breaths
 Blood circulation after birth
oWith the first breaths of air the baby takes at birth, the
fetal circulation changes. A larger amount of blood is sent
to the lungs to pick up oxygen
oBecause the ductus arteriosus (the normal connection
between the aorta and the pulmonary valve) is no longer
needed, it begins to wither and close off (72 hours)
oThe circulation in the lungs increases and more blood
flows into the left atrium of the heart  ↑ pressure
causes the foramen ovale to close and blood circulates
normally
Acyanotic CHD (Pink baby : L R shunt)
oL R shunts cause Congestive Heart Failure (CHF) and
pulmonary hypertension
oThis leads to RV enlargement, RV failure
oThese babies present with CHF and respiratory
distress
oThey are not typically cyanotic
oExamples: Pantent Ductus Arteriosus (PDA),
Ventricular Septal Defect (VSD), Atria Septal Defect
(ASD), Coarctasio of the Aorta
Cyanotic CHD (Blue baby R L shunt)
oRL shunts cause hypoxia and central cyanosis
oVenous blood is shunted from the R to the L side of
oxygenated
oInoxygenated blood circulates in arteries  cyanosis
oExamples: Tetralogy of Fallot (ToF), Transposition of the
Great Arteries (TGA), Truncus Arteriosus (TA)
Increase
pulmonary blood
flow
Atrial Septal Defect (ASD)
ATRIAL SEPTAL DEFECTS (ASD)
Three types exist : primum, secundum
and sinus venosus
The most common is the secundum
type
Symptoms: None in childhood,
arrhythmias in the 3 rd decade
ASD
Sign and symptoms Diagnostic tests
◦ Child tires easily when ◦ CXR- enlarged heart
playing ◦ ECG
◦ Infant tires easily when ◦ 2D echo- show pattern of
feeding blood flow through the
◦ Fatigue septal
◦ Sweating
◦ Tachypnea, tachycardia
◦ Poor growth
◦ Murmur
 ASD- cont...
oClinical signs include a 2-3/6 SEM at
the ULSB and a fixed wide split S2

oA large ASD causes right ventricular

enlargement

oEKG: RAD and IRBBB

 ASD - cont...
oECHO: Diagnostic
oNatural History: Arrhythmias and
pulmonary obstructive vascular
disease in the 3rd and 4th decade.
oProphylaxis ??
oTreatment : Surgical vs. transcatheter
closure
PATENT DUCTUS ARTERIOSUS
( PDA)
oPDA occurs in 5-10% of all congenital
heart defects, exclude premature
infants
oFemale: male = 3:1
oVery common in preterm babies.
oUsually closes in the first 2 weeks of
life.
 PDA - cont…..
Symptoms : a) None if small
◦b) If large can cause CHF at 6-8 weeks
in a term infant
◦c) In a preterm baby increasing respiratory
support usually occurs after day 3 of life.
 PDA - cont...
oIn a preterm it can be closed
medically using indomethacin.

oIn a term baby if still open at 3

months of age then coil closure by
cardiac catherization is the method of
choice.
 VENTRICULAR SEPTAL
DEFECTS ( VSD)
oThis is the most common form of CHD
oAbout 15-20% of all congenital heart defects
oThe VSDs are subdivided according to the part
of the septum they occur in : Muscular,
perimembranous, inlet, outlet
oA large VSD causes left ventricular enlargement
oWith a small VSD there is normal growth and
development
 VSD - cont…..
oWith a large defect there may be CHF(
usually at 6-8 weeks), pulmonary
infections and delayed growth
oClinical signs : Loud 4-5/6 , harsh
holosystolic murmur, middiastolic
rumble and a loud P2
 VSD - cont…..
EKG: LVH or BVH (biventricular
hypertrophy)

ECHO: Diagnostic
 VSD -cont...
Natural history : Small VSDs close
spontaneously depending on the site.

Unrepaired the large defects may lead

to Eisenmenger’s syndrome.
VSD - cont…..
oLarge VSDs are closed surgically
usually at about 4- 6 months of age.
oDiuretics,digoxin and afterload
reducing agents are used prior to
surgery - if needed.
Obstruction to
blood flow from
ventricles
Coarctation of the Aorta (CoA)
oMore common in males (2:1)
oAlmost always juxtaductal
o85% of children with CoA have a
bicuspid aortic valve.
oAbout 30% Turner’s syndrome have
CoA
 CoA - cont….
o Symptoms and Signs:
o SEVERE : Shock
o MODERATE : CHF,
o MILD : Headaches, leg claudication

o Decreased femoral pulses are an

important sign esp. in neonates.
o BP lower in the lower limbs
 CoA - cont….
ECHO : Diagnostic
Treatment: For an infant in shock -
PGE1 immediately.

Surgical vs. transcatheter repair.

PULMONAL
STENOSIS
 PULMONAL STENOSIS ( PS)
oThis may be at the valve, subvalvar or
supravalvar.
oSymptoms: None in mild or moderate
stenosis. Cyanosis is seen only with critical
PS.
oSigns: ejection click and a harsh SEM
(systolic ejection murmur) , at the ULSB
(upper left sternal border).
oECHO : Diagnostic
 PS - cont...
Treatment : Balloon valvotomy if the RV pressure is over 50 mmHG
AORTIC
STENOSIS
AORTIC STENOSIS ( AS)
oStenosis possible at the valve,
subvalvar or supravalvar.
oThis is a more significant and a
dangerous lesion compared to PS.
oMore common in males.
oValvar AS is usually associated with a
bicuspid aortic valve.
AS
o A type of subvalvar AS is also called
HCM which is the commonest cause of
sudden death in children
oSymptoms:
oMild : None
oModerate to severe: Chest pain,
fatigability, syncope.
Cyanotic CHD
Decrease blood
flow
TOF
TRICUSPID ATRESIA
Mixed blood flow
TGA
TAPV RETURN
TRUNCUS ARTERIOSUS
HYPOPLASTIC LEFT HEART SYNDROME
Hypoplastic Left Heart syndrome
Hypoplastic Left Heart
Syndrome
oVarying degrees of left heart hypoplasia at
multiple levels
oBabies present in cardiogenic SHOCK once the
ductus closes.
oImmediate treatment is PGE1 intravenously as an
infusion.
oSurgical treatment includes a Norwood procedure
initially, followed by a bidirectional Glenn at 6
months and a Fontan procedure at about 2 years.
Eibstein’s anomaly
oEibstein’s anomaly of the tricuspid valve occurs in < 1% of all congenital
heart defects
oSevere case : cyanosis and CHF develop during the firs few days of life
oChildren with milder cases: dyspnea, fatique, cyanosis,or palpitation on
exertion
oA history of SVT is occasionally present
 Eibstein’s anomaly cont’s…
oPhysical exam: mild to severe cyanosis, clubbing of the fingers and toes
in older infants and children
oTriple or quadruple rhytm
oRhytm widely split S2, in addition to split S1,S2, S3, and S4.
oA soft systolic regurgitant murmur of Tricuspid regurgitation (TR) and
mid diastolic murmur audible at the lower left sternal border

oHepatomegaly is usually present

 Eibstein’s anomaly cont’s…
ECG: RBBB and RAH present

First degree AV block is frequent 40%

Congestive Cardiac Failure
Tachycardia CHD
2 months-VSD, PDA
Tachypnea
Within 1st month-
Hepatomegaly Coarctation, AS, HLHS
Cardiomegaly, murmur, Neonatal period:Truncus
Arteriosus
HR too fast/slow
Normal heart
FAILURE TO THRIVE
Myocarditis
SYNDROMES
Down’s: Incidence 50% . AV canal defects.
Turner’s : 10%. Coarctation , bicuspid aortic valve
Williams’s : Supravalvar aortic stenosis, PPS
Alagille : Peripheral pulmonic stenosis (PPS)
Noonan : PPS and HCM
Marfan’s : Aortic root dilatation, MVP
DiGeorge: Truncus Arteriosus, Interrupted aortic arch.
Catch 22 : conotruncal abn. such as VSD,TOF, collaterals, right aortic arch
Kartagener : Dextrocardia, situs inversus, immotile cilia
Holt-Oram: Limb abnormalities with ASD
Ellis-van Creveld: ASD
Pompe’s D: Hypertrophic cardiomyopathy
Congenital Heart Disease-Etiology- Environmental
Factors/Toxins

Lithium: Ebstein’s anomaly

Ethanol: ASD,VSD ( Fetal Alcohol Syndrome)
Anticonvulsants: PS, AS, TOF
Retinoic Acid: Transposition
Rubella: PDA, PPS
Coxsachie B : Neonatal myocarditis
Maternal Diabetes: HCM, TGA
Maternal Lupus: Complete heart block
PKU: VSD, ASD, complex CHD
1. A 3 month old girl who has Down syndrome exhibits
poor weight gain, tachypnea and a low pitched grade
2 murmur. Chest radiography reveals cardiomegaly
and increased pulmonary vascularity. EKG documents
RVH and a superior frontal plane QRS. Of the
following, the MOST likely diagnosis is:
A. coarctation of the aorta
B. complete atrioventricular septal defect
C. patent ductus arteriosus
D. Perimembranous VSD
E. secundum ASD