CONGENITAL HEART

DISEASE
Ong, Kathryn Macy
 General term used to describe
abnormalities of the heart or great vessels
that are present from birth
 Arise from faulty embryogenesis during
gestational weeks 3 through 8
 Individual chambers or discrete regions of
the heart are mostly affected
 Ex. Infants born with a defect in septation
(“hole in the heart”)
 Atrial Septal Defect (ASD)
 Ventricular Septal Defect (VSD)
 Stenotic Valvular Lesions
 Abnormalities in the coronary arteries.
  Some important manifestations can be
seen or produced clinically soon after
birth
 Change from fetal to postnatal circulatory
patterns (with reliance on the lungs for
oxygenation birth, rather than the placenta as
in intrauterine life


 Almost 50% of congenital cardiovascular

malformations are diagnosed in the
first year of life
 Some mild forms may not become evident until
adulthood (e.g., ASD)

 Incidence
 Estimates range from 4 to 50 per 1000 live births (approx. 1%)
 Most prevalent malformation & most common type of heart disease
among children.
 Higher in premature infants and in stillborns.
 Twelve disorders account for about 85% of all cases

 “According to statistics, the prevalence of congenital heart disease

at birth is 5 per 1,000 livebirths. It declines rapidly as many of
the cases die. At five years of age, the rate is about 1.5 per 1,000
and remains at 1.2 per 1,000 at age eight and onwards. “*


*Senate Bill No: 1877 (as introduced by Sen. Manny Villar in his Explanatory Note in the First Regular


Session of the Fourteenth Congress), 2007

Frequencies of Congenital Cardiac
Malformations

Source: Hoffman JIE, Kaplan S: The incidence of congenital heart disease. J Am Coll Cardiol

do not add up to 100%

Malformation Incidence per Million Live Percentage
Ventricular septal Births
4482 42
defect septal defect
Atrial 1043 10
Pulmonary stenosis 836 8

* Presented as upper quartile of 44 published studies. Percentages

Patent ductus arteriosus 781 7
Tetralogy of Fallot 577 5
Coarctation of the aorta 492 5
Atrioventricular septal 396 4
defect
Aortic stenosis 388 4
Transposition of the 388 4
great arteries
Truncus arteriosus 136 1
Total anomalous 120 1
pulmonaryatresia
Tricuspid venous 118 1

because of rounding.
connection
TOTAL 9757

39:1890, 2002.
 Overview of the Cardiac
Development

First Heart Field

Template Second Heart Field
Migration
Day 15 (2 nd – 3 rd week) Day 21 (3rd week)
First heart field (FHF) cells SHF cells lie dorsal to the straight
(shown in red) form a crescent heart tube and begin to migrate
shape in the anterior embryo with (arrows) into the anterior and
posterior ends of the tube to form
second heart field (SHF) cells the right ventricle (RV), conotruncus
(shown in yellow) near the FHF. (CT), and part of the atria (A).

Neural Crest
Migration
Day 28 (4th week)
Following rightward looping of
the heart tube, cardiac neural
crest cells (shown in blue) also
migrate (arrow) into the outflow
tract from the neural folds to
septate the outflow tract and
pattern the bilaterally symmetric
aortic arch arteries (III, IV, and
VI).
Completed Formation of Four -
chambered Heart
Day 50 ( 7th-8th week)
Septation of the ventricles,
atria, and atrioventricular
valves (AVV) results in the
appropriately configured four-
chambered heart.
***( Ao ) aorta; ( AS ) Aortic Sac; (DA ) ductus
arteriosus; (LA ) left atrium; ( LCA ) left carotid
artery; (LSCA) left subclavian artery; ( LV ) left
ventricle; ( PA ) pulmonary artery; ( RA ) right
atrium; ( RCA ) right carotid artery; ( RSCA ) right
subclavian artery; ( V ) ventricle.
Etiology and Pathogenesis
 Main known causes consist of sporadic genetic
abnormalities:
 Gene mutations
 Affected genes encode proteins belonging to several different
functional classes
 Many of these mutations affect genes encoding transcription
factors that are required for normal heart development
 Ex. GATA4, TBX5, and NKX2-5  three transcription factors that
are mutated in some patients with atrial and ventricular septal
defects, all bind to one another and co-regulate the expression
of target genes that are required for the proper development
of the heart
 Small chromosomal deletions
 A notable example is the deletion of chromosome 22q11.2,
which is found in up to 50% of patients with DiGeorge
syndrome. (The fourth branchial arch and the derivatives of
the third and fourth pharyngeal pouches, which contribute to
the formation of the thymus, parathyroids, and heart, develop
abnormally)
  Additions or deletions of whole chromosomes
(trisomies and monosomies)
 Other important genetic causes of congenital heart disease
include chromosomal aneuplodies, particularly Turner
syndrome (monosomy X) and trisomies 13, 18, and 21



Clinical Features
 The varied structural anomalies in congenital
heart disease fall primarily into three major
categories:
 Malformations causing a left-to-right shunt
 Atrial septal defect
 Ventricular septal defect
 Patent Ductus Arteriosus
 Malformations causing a right-to-left shunt   
 Tetralogy of Fallot
 Transposition of the Great Arteries ( TOGA )
 Truncus Arteriosus
 Malformations causing an obstruction.
 Coarctation of the Aorta
 Pulmonary stenosis
 Aortic stenosis
LEFT-TO-RIGHT
SHUNTS
Chavenia, Jacob Don
 LEFT-to-RIGHT SHUNT
 A shunt is an abnormal communication between
chambers or blood vessels.
 Left to right shunts are characterized by a "back-
leak" of blood from the systemic to the
pulmonary circulation
 Blood volume and pressure in the pulmonary
circulation become abnormally high
 If the shunt is significant  progressive damage
to the pulmonary vasculature and gradual
development of irreversible pulmonary
hypertension
 The pressure in the pulmonary circuit may
ultimately exceed the systemic pressure with
reversal of blood flow from the right side of the
circulation to the left (Eisenmenger syndrome).
 The most commonly encountered left-to-right
  Ventricular septal defect
(VSD)
With VSD the shunt is left-to-


right, and the pressures are

the same in both ventricles.
Pressure hypertrophy of the
 Atrial septal defect (ASD)
right ventricle and volume
hypertrophy of the left
ventricle are generally
present.
 Patent ductus arteriosus  Atrioventricular septal
(PDA) defect (AVSD)
ATRIAL SEPTAL
DEFECT
Ong, Kathryn Macy
ATRIAL SEPTAL DEFECT
 An abnormal, fixed opening in the atrial
septum caused by incomplete tissue
formation that allows communication of
blood between the left and right atria
 Usually asymptomatic until adulthood
 4:1 ratio of females to males
 Frequently associated with Ellis-van
Creveld and Holt-Oram syndromes
 Associated with prolapsing mitral valve



R L R L
Right atriotomy
showing atrial
septal defect
(ASD) and margins
of enlarged ASD
(dotted lines)

Source: Rutledge JM, Hiatt PW, Wesley Vick G 3rd,

Grifka RG. A sword for the left hand: an unusual
case of left-sided scimitar syndrome. Pediatr
Cardiol. 2001;22:350-352
 3 major types (according to location):
i. Secundum ASDs
o 90% of all ASDs
o From a deficient or fenestrated oval fossa near
the center of the atrial septum.
o Usually not associated with other anomalies
o May be of any size, be single or multiple, or be
fenestrated.
ii. Primum ASDs
o 5% of ASDs
o Occur adjacent to the AV valves
o Usually part of endocardial cushion defect
o Frequently associated with cleft mitral and
tricuspid valves
o Tends to act like VSD physiologically
iii.Sinus venosus defects
o 5% of ASDs
o Located near the entrance of the superior
vena cava
o Associated with anomalous pulmonary
venous return to the right atrium
Clinical Features
 Pulmonary vascular resistance < Systemic
vascular resistance
 Compliance (distensibility) of the right
ventricle is much greater than that of the
left
 Pulmonary blood flow may be two to four
times normal
 Excessive flow through the pulmonary valve
  urmur
 ASDs are generally well tolerated
 Usually do not become symptomatic before
age 30;
 Unusual irreversible pulmonary hypertension
Diagnosis
 Chest x-ray
 Helpful in judging the size of the left-to-right shunt in
patients with ASD
 Small Shunts: Normal x-ray
 ↑ Shunt size, ↑ Heart size, ↑ pulmonary vascular
markings
 Right ventricular hypertrophy may be seen
 But, not helpful in distinguishing the various types of
ASD
 ECG
 May show some right bundle branch block and right
axis deviation.
 Small LR shuts (Secundum, sinus venosus
ASDs, and the unroofed coronary sinus): ECG may be
normal
 Moderate to Large LR  ECG will show evidence of
right atrial and RV hypertrophy and right axis
deviation.
 Ostium primum  easil distiguished
 Echocardiography
 Assesses the degree of right atrial and RV
enlargement and hypertrophy
 Transesophageal echocardiography
ca diagnose sinus venosus defects
 Transthoracic echocardiography  ca
ol give a clue as to the
presence of a sinus venosus ASD
 Doppler Techinque
 Approximates the elevation of pulmonary
artery pressure
Progression of Atrial Septal
Defect
 ASDs may occur in isolation or may
be associated with other
malformations:
 Spontaneous closure of ASDs is rare after
the first 2 years of life.
 Increased flow to the pulmonary
circulation eventually leads to pulmonary
hypertension, usually by the 4th decade
 In severe cases the shunt can eventually
reverse so that blood bypasses the lungs
- this is termed Eisenmenger's syndrome
and is a poor prognostic factor.
Treatment
 For Secundum ASD by direct suture
or patch closure and device closure by
cardiac catheterization** techniques
 It is important that a rim of septal tissue be
present around the entire circumference of
the defect to stabilize the device.
 Long term outcome remains unknown

 For Primum ASD  b patch closure

and in most cases, the cleft in the mitral
valve leaflet is repaired
 For Sinus Venosus ASD  the
anomalous drainage of the right upper
pulmonary vein is corrected, and the
 The usual age for closure of an
uncomplicated ASD is 2 to 4 years.
 In rare cases of infants with ASD and heart
failure, surgery should be performed during
infancy.
 Endocarditis prophylaxis is recommended
for all types of ASDs except secundum


 **Cardiac catheterization
 Invasive test wherein a small tube “catheter” is
inserted into a blood vessel and passes the tube
towards the heart
 Used to deliver and implant devices to close
secundum ASDs without the need for open heart
surgery
 Measures important pressures in the heart and lungs
DIRECT PATCH
SUTURE CLOSURE
ASD Device Closure
Cardiac Catheterization

Sources
 Robbins and Cotran Pathologic Basis of
Disease (8th Edition), 2010 Saunders
Elsevier
 Fundamentals of Pediatric Cardiology
(1st Edition), 2006 Lippincott Williams &
Wilkins
 Behrman, Kliegman, Jenson. Nelson
Textbook of Paediatrics 17th Ed.
Saunders 2004.
 Rudolph et al. Rudolphs's Paediatrics
(21st edition). McGraw-Hill 2003.
 Ashraf Aly, MD, PhD; Dept. of Pediatrics,
University of Texas Medical Branch. Core
VENTRICULAR SEPTAL
DEFECT
Miclat, Mary Louise
Ventricular Septal Defect
Definition
Ventricular septal defect is a hole in the wall


between the right and left ventricles of the heart.

This abnormality usually develops before birth
and is found most often in infants.
Normal blood flow
 Normally, unoxygenated blood from the
body returns to the right half of the
heart, that is the right atrium, then the
right ventricle, which pumps the blood
to the lungs to absorb oxygen. After
leaving the lungs, the oxygenated blood
returns to the left half of the heart, that
is the left atrium, then the left ventricle,
where it is pumped out to provide
oxygen to all the tissues of the body.
Blood flow during ventricular
septal defect
 A ventricular septal defect can allow
newly oxygenated blood to flow from
the left ventricle, where the pressures
are higher, to the right ventricle, where
the pressures are lower, and mix with
unoxygenated blood. The mixed blood
in the right ventricle flows back or
recirculates into the lungs. This means
that the right and left ventricles are
working harder, pumping a greater
volume of blood than they normally
would.
 Eventually, the left ventricle can work so
hard that it starts to fail. It can no
longer pump blood as well as it did.
Blood returning to the heart from the
blood vessels backs up into the lungs,
causing pulmonary congestion, and
further backup into the body, causing
weight gain and fluid retention. Overall,
this is called congestive heart failure.

 If the VSD is large and surgically
uncorrected, pressure can build
excessively in the lungs, called
pulmonary hypertension. The higher the
lung or pulmonary pressure, the greater
the chance of blood flowing from the
right ventricle to the left
ventricle, backwards, causing
unoxygenated blood to be pumped to
the body and cyanosis (blue skin). 

 The ventricular septal defect may not be
heard with a stethoscope until several
days after birth. This is because a
newborn's circulatory system changes
during the first week with drop in the
lung or pulmonary pressure, creating
the greater pressure differential
between the 2 ventricles, thus greater
left-to-right shunt and audible murmur.

 Ventricular septal defects are the most
common congenital heart defects in
infants.


 The condition occurs in about 25% of all

infants born with a heart defect.


 These defects are more common in

premature infants.

Cause
 Malformation of the heart that occurs
while the infant is developing in the
womb.

 There may be just one hole or several holes
in the septum.
 The septum itself is divided into multiple
areas, including the membranous part, the
muscular part, and other areas called the
inlet and outlet. Any or all of these parts
can have a hole.
 The location of the hole depends on where
the malformation takes place during fetal
development.


 The most common type of ventricular septal

defect is the membranous variant. In this
type, the hole is located below the aortic
valve, which controls flow of blood from the
Symptoms
 Small holes in the ventricular septum
usually produce no symptoms but
are often recognized by the child's
health care provider when a loud heart
murmur along the left side of the lower
sternum is heard. Large holes typically
produce symptoms 1-6 months after an
infant’s birth.
The left ventricle begins to fail,
producing the following
symptoms:
 Fast breathing
 Sweating
 Pallor
 Very fast heartbeats
 Decreased feeding
 Poor weight gain
Typical symptoms of pulmonary
hypertension:

 Fainting
 Shortness of breath
 Chest Pain
 Cyanosis

Exams and Tests
 A ventricular septal defect is detected on
physical examination by a systolic
murmur audible with a stethoscope
along the lower left sternal or breast
bone border. It is related to the
oxygenated blood “swishing” through
the hole or VSD into the right ventricle.
 The presence of a hole in the heart can
be confirmed by echocardiogram.
 It can quantitate the size of the left-to-
right shunt by enlargement of the left
ventricle, pressure in the lungs, and
actually estimate the degree of
shunting by an empirical formula.
 Chest x-ray is useful to see if the overall
heart size is enlarged, plus evidence of
fluid in the lungs or pulmonary
congestion.
 An electrocardiogram is helpful in checking to
see if the left ventricle is the dominant
working muscle, and therefore operate sooner.
 


 Pressures are measured inside the heart,

especially if any concern was previously raised
over the degree of pulmonary hypertension
and therefore operability. If the lung pressures
are very high and won’t drop with oxygen and
additional vasodilating drugs, the patient may
not be operable.          


 If additional abnormalities are possible, a dye

study may be performed to visualize the
anatomy of inside the heart.
Treatment
 Small defects will close spontaneously in 20-25%


 Larger ventricular septal defects do not close as the

child grows. If it does not close, closing the heart
surgically is necessary.
 Surgical closure is typically done before the child
begins preschool.


 Surgery is indicated if medications do not work in the

first few months or years of life, especially if the child
is not growing adequately even with medications.


 Surgery is more urgent if evidence of pulmonary

hypertension has developed.

Other conditions that may
result from VSD:
 Aortic regurgitation: Blood flowing backward
from the aorta into the left ventricle.
 


 Endocarditis: An infection of the heart valves

due to abnormal blood flow. Because
endocarditis is always possible, medical
professionals recommend that children with
ventricular septal defects routinely receive
antibiotics before undergoing dental
procedures or surgery.


 Pulmonary hypertension: An increase in pressure

in the right side of the heart and in the
arteries of the lungs. This is caused by the
shunting of blood from the left to the right
ventricle, which increases the pressure in the
 Sources
 Author: Mark Merlin, DO, FACEP, Faculty/EMS Fellowship
Director, Clinical Instructor, Department of
Emergency Medicine, Morristown Memorial
Hospital/Atlantic Health System.


 Coauthor(s): Kathryn L Hale, MS, PA-C, Medical Writer,

eMedicine.com, Inc.


 Editors: Alan D Forker, MD, Program Director of

Cardiovascular Fellowship, Professor of Medicine,
Department of Internal Medicine, University of
Missouri at Kansas City School of Medicine; Francisco
Talavera, PharmD, PhD, Senior Pharmacy Editor,
eMedicine; Jonathan Adler, MD, Instructor,
Department of Emergency Medicine, Harvard Medical
School, Massachusetts General Hospital.

PATENT DUCTUS
ARTERIOSUS
Chavenia, Jacob Don
Definition
 Patent ductus arteriosus (PDA) is a
condition in which a blood vessel called
the ductus arteriosus fails to close
normally in an infant soon after birth.
 The condition leads to abnormal blood
flow between the aorta and pulmonary
artery, two major blood vessels that
carry blood from the heart.

Blood flow
 Before birth, the ductus arteriosus allows
blood to bypass the baby's lungs by
connecting the pulmonary arteries (which
supply blood to the lungs) with the aorta
(which supplies blood to the body).
 Soon after the infant is born and the lungs fill
with air, this blood vessel is no longer
needed. It will usually close within a couple
of days.
 If the ductus arteriosus does not close, there
will be abnormal blood circulation between
the heart and lungs.
 PDA is more common in premature
infants and those with neonatal
respiratory distress syndrome. Infants
with genetic disorders, such as Down
syndrome, and whose mothers had
rubella during pregnancy are at higher
risk for PDA.
 PDA is common in babies with congenital
heart problems, such as hypoplastic left
heart syndrome, transposition of the
great vessels, and pulmonary stenosis
Symptoms
 Bounding pulse
 Fast breathing
 Poor feeding habits
 Shortness of breath
 Sweating while feeding
 Tiring very easily
 Poor growth

Treatment
 Sometimes, a PDA may close on its own.
Premature babies have a high rate of
closure within the first 2 years of life. In
full-term infants, a PDA rarely closes on
its own after the first few weeks.

 A transcatheter device closure is a minimally
invasive procedure that uses a thin, hollow
tube. The doctor passes a small metal coil
or other blocking device through the
catheter to the site of the PDA. This blocks
blood flow through the vessel. Such
endovascular coils have been used
successfully as an alternative to surgery.
 Surgery may be needed if the catheter
procedure does not work or cannot be
used. Surgery involves making a small cut
between the ribs to repair the PDA.

 If the patent ductus is not closed, the
infant has a risk of developing heart
failure, pulmonary artery hypertension,
or infective endocarditis (an infection of
the inner lining of the heart).

Sources
 Zipes DP, Libby P, Bonow RO, Braunwald
E, eds. Braunwald's Heart Disease: A
Textbook of Cardiovascular
Medicine, 8th ed. St. Louis, Mo; WB
Saunders; 2007
 Robbins and Cotran Pathologic Basis
of Disease (8th edition), 2010 Saunders
Elsevier
