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
Malformation Incidence per Million Live
Births
Percentage
Ventricular septal
defect
4482 42
Atrial septal defect 1043 10
Pulmonary stenosis 836 8
Patent ductus arteriosus 781 7
Tetralogy of Fallot 577 5
Coarctation of the aorta 492 5
Atrioventricular septal
defect
396 4
Aortic stenosis 388 4
Transposition of the
great arteries
388 4
Truncus arteriosus 136 1
Total anomalous
pulmonary venous
connection
120 1
Tricuspid atresia 118 1
TOTAL 9757
:


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Overview of the Cardiac
Development
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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)

One candidate gene in the deleted region is TBX1 (regulates the
expansion of cardiac progenitors in the second heart field)
·
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
shunts include ASDs, VSDs, patent ductus
arteriosus, and atrioventricular septal defects


Atrial septal defect (ASD)

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
right ventricle and volume
hypertrophy of the left
ventricle are generally
present.

Patent ductus arteriosus
(PDA)

Atrioventricular septal
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 R
l
l

Right atriotomy
showing atrial
septal defect
(ASD) and margins
of enlarged ASD
(dotted lines)
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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
o
iii.
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
is unusual

Mortality is low, and long-term survival is
comparable to that of a normal population
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 s u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  s l st  u s
 like other forms of endocardial cushion defects,
they are characterized by an initial counterclockwise
frontal plane loop and left axis deviation.

Echocardiography
·
Assesses the degree of right atrial and RV
enlargement and hypertrophy
·
Transesophageal echocardiography
  diagnose sinus venosus defects
·
Transthoracic echocardiography  
ol v 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  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
ASD is closed
·

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

DTRlCT
S|T|Rl
l\TCH
ClOS|Rl

Cardiac Catheterization
Sources

Robbins and Cotran Pathologic Basis of
Disease (8
th
Edition), 2010 Saunders
Elsevier

Fundamentals of Pediatric Cardiology
(1
st
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
Concepts of Pediatrics. 2008.

VENTRICULAR SEPTAL
DEFECT
Miclat, Mary Louise
Ventricular Septal Defect

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.
Definition
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
left ventricle into the main artery of the
body, the aorta.
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
right ventricle.

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.


Robbins and Cotran Pathologic Basis of Disease (8
th

edition), 2010 Saunders Elsevier

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 (8
th
edition), 2010 Saunders
Elsevier

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)

  Higher in premature infants and in stillborns. 1%) Most prevalent malformation & most common type of heart disease among children.000 at age eight and onwards.2 per 1. the rate is about 1. Manny Villar in his Explanatory Note in the First Regular Session of the Fourteenth Congress). the prevalence of congenital heart disease at birth is 5 per 1.000 and remains at 1.  Twelve disorders account for about 85% of all cases  “According to statistics.000 livebirths.5 per 1. At five years of age. It declines rapidly as many of the cases die. 2007 . “*    *Senate Bill No: 1877 (as introduced by Sen.Incidence  Estimates range from 4 to 50 per 1000 live births (approx.

J Am Coll Cardiol 39:1890. * Presented as upper quartile of 44 published studies. Kaplan S: The incidence of congenital heart disease.Malformation Incidence per Million Live Births Ventricular septal 4482 defect septal defect Atrial 1043 Pulmonary stenosis 836 Patent ductus arteriosus 781 Tetralogy of Fallot 577 Coarctation of the aorta 492 Atrioventricular septal 396 defect stenosis Aortic 388 Transposition of the 388 great arteries Truncus arteriosus 136 Total anomalous 120 pulmonary venous Tricuspid atresia 118 connection TOTAL 9757 Percentage 42 10 8 7 5 5 4 4 4 1 1 1 Source: Hoffman JIE. 2002. Frequencies of Congenital Cardiac Malformations . Percentages do not add up to 100% because of rounding.

Overview of the Cardiac Development First Heart Field Template Day 15 (2 nd – 3 rd week) First heart field (FHF) cells (shown in red) form a crescent shape in the anterior embryo with second heart field (SHF) cells (shown in yellow) near the FHF. Second Heart Field Migration Day 21 (3rd week) SHF cells lie dorsal to the straight heart tube and begin to migrate (arrows) into the anterior and posterior ends of the tube to form the right ventricle (RV). conotruncus (CT). . and part of the atria (A).

( PA ) pulmonary artery. atria. ( RA ) right atrium. (DA ) ductus arteriosus.Neural Crest Migration Day 28 (4th week) Following rightward looping of the heart tube. IV. (LSCA) left subclavian artery. . ( V ) ventricle. and VI). (LA ) left atrium. ( LV ) left ventricle. ( LCA ) left carotid artery. Completed Formation of Four chambered Heart Day 50 ( 7th-8th week) Septation of the ventricles. ( RSCA ) right subclavian artery. ( RCA ) right carotid artery. ( AS ) Aortic Sac. 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. ***( Ao ) aorta. and atrioventricular valves (AVV) results in the appropriately configured fourchambered heart.

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 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)

Small chromosomal deletions

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 shunts are characterized by a "backleak" 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).LEFT-to-RIGHT SHUNT       A shunt is an abnormal communication between chambers or blood vessels. The most commonly encountered left-to-right .

and the pressures are the same in both ventricles. Pressure hypertrophy of the right ventricle and volume hypertrophy of the left ventricle are generally present. Atrial septal defect (ASD) Ventricular septal defect (VSD) With VSD the shunt is left-toright.  .

 Patent ductus arteriosus (PDA)  Atrioventricular septal 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.22:350-352 . A sword for the left hand: an unusual case of left-sided scimitar syndrome. Hiatt PW. Wesley Vick G 3rd. Pediatr Cardiol. Grifka RG. 2001.

 3 major types (according to location): i. 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 . Secundum ASDs o 90% of all ASDs o From a deficient or fenestrated oval fossa near the center of the atrial septum. or be fenestrated. be single or multiple. o Usually not associated with other anomalies o May be of any size.

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 .iii.

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 Unusual irreversible pulmonary hypertension  .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.

↑ Heart size. Small LR shuts (Secundum. 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. not helpful in distinguishing the various types of ASD May show some right bundle branch block and right axis deviation. Ostium primum  easil distiguished  ECG     .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. ↑ pulmonary vascular markings Right ventricular hypertrophy may be seen But. sinus venosus ASDs.

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 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 .

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 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 .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.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 .

surgery should be performed during infancy.  In rare cases of infants with ASD and heart failure.  Endocarditis prophylaxis is recommended for all types of ASDs except secundum 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   **Cardiac catheterization    . The usual age for closure of an uncomplicated ASD is 2 to 4 years.

DIRECT SUTURE PATCH CLOSURE .

ASD Device Closure .

 Cardiac Catheterization .

2006 Lippincott Williams & Wilkins Behrman. Dept. of Pediatrics. Jenson. 2010 Saunders Elsevier Fundamentals of Pediatric Cardiology (1st Edition). Core . PhD.Sources      Robbins and Cotran Pathologic Basis of Disease (8th Edition). University of Texas Medical Branch. Ashraf Aly. Kliegman. McGraw-Hill 2003. Nelson Textbook of Paediatrics 17th Ed. Rudolphs's Paediatrics (21st edition). Rudolph et al. MD. Saunders 2004.

Mary Louise .VENTRICULAR SEPTAL DEFECT Miclat.

Ventricular Septal Defect .

This abnormality usually develops before birth and is found most often in infants.Definition  Ventricular septal defect is a hole in the wall between the right and left ventricles of the heart. .

which pumps the blood to the lungs to absorb oxygen. . that is the left atrium. the oxygenated blood returns to the left half of the heart. that is the right atrium. where it is pumped out to provide oxygen to all the tissues of the body. then the left ventricle. then the right ventricle. unoxygenated blood from the body returns to the right half of the heart.Normal blood flow  Normally. After leaving the lungs.

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where the pressures are lower. This means that the right and left ventricles are working harder. where the pressures are higher. . The mixed blood in the right ventricle flows back or recirculates into the lungs. and mix with unoxygenated blood.Blood flow during ventricular septal defect  A ventricular septal defect can allow newly oxygenated blood to flow from the left ventricle. to the right ventricle. pumping a greater volume of blood than they normally would.

 . It can no longer pump blood as well as it did. causing pulmonary congestion. Eventually. and further backup into the body. this is called congestive heart failure. Blood returning to the heart from the blood vessels backs up into the lungs. causing weight gain and fluid retention. Overall. the left ventricle can work so hard that it starts to fail.

pressure can build excessively in the lungs. If the VSD is large and surgically uncorrected. The higher the lung or pulmonary pressure. the greater the chance of blood flowing from the right ventricle to the left ventricle. backwards.   . called pulmonary hypertension. causing unoxygenated blood to be pumped to the body and cyanosis (blue skin).

 . This is because a newborn's circulatory system changes during the first week with drop in the lung or pulmonary pressure. The ventricular septal defect may not be heard with a stethoscope until several days after birth. thus greater left-to-right shunt and audible murmur. creating the greater pressure differential between the 2 ventricles.

     . The condition occurs in about 25% of all infants born with a heart defect. Ventricular septal defects are the most common congenital heart defects in infants. These defects are more common in premature infants.

Cause  Malformation of the heart that occurs while the infant is developing in the womb.  .

the muscular part. The most common type of ventricular septal defect is the membranous variant. In this type. including the membranous part. The septum itself is divided into multiple areas. the hole is located below the aortic valve. and other areas called the inlet and outlet. The location of the hole depends on where the malformation takes place during fetal development. which controls flow of blood from the   .   There may be just one hole or several holes in the septum. Any or all of these parts can have a hole.

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 .

The presence of a hole in the heart can be confirmed by echocardiogram. .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.

pressure in the lungs. . Chest x-ray is useful to see if the overall heart size is enlarged. and actually estimate the degree of shunting by an empirical formula.  It can quantitate the size of the left-toright shunt by enlargement of the left ventricle. plus evidence of fluid in the lungs or pulmonary congestion.

the patient may not be operable. and therefore operate sooner. a dye study may be performed to visualize the anatomy of inside the heart.           If additional abnormalities are possible.       . An electrocardiogram is helpful in checking to see if the left ventricle is the dominant working muscle. Pressures are measured inside the heart. If the lung pressures are very high and won’t drop with oxygen and additional vasodilating drugs. especially if any concern was previously raised over the degree of pulmonary hypertension and therefore operability.

Surgery is more urgent if evidence of pulmonary hypertension has developed. closing the heart surgically is necessary. If it does not close. Surgery is indicated if medications do not work in the first few months or years of life. Surgical closure is typically done before the child begins preschool.        .Treatment   Small defects will close spontaneously in 20-25% Larger ventricular septal defects do not close as the child grows. especially if the child is not growing adequately even with medications.

Endocarditis: An infection of the heart valves due to abnormal blood flow. medical professionals recommend that children with ventricular septal defects routinely receive antibiotics before undergoing dental procedures or surgery. which increases the pressure in the       . This is caused by the shunting of blood from the left to the right ventricle. Because endocarditis is always possible.Other conditions that may result from VSD:  Aortic regurgitation: Blood flowing backward from the aorta into the left ventricle. Pulmonary hypertension: An increase in pressure in the right side of the heart and in the arteries of the lungs.

Professor of Medicine. Faculty/EMS Fellowship Director. Harvard Medical School. DO. PA-C. Medical Writer. University of Missouri at Kansas City School of Medicine.Sources  Author: Mark Merlin. Department of Emergency Medicine. MS. Department of Emergency Medicine. Program Director of Cardiovascular Fellowship. Jonathan Adler.      . Editors: Alan D Forker. MD.com. Coauthor(s): Kathryn L Hale. eMedicine. FACEP. Morristown Memorial Hospital/Atlantic Health System. MD. PharmD. Inc. Instructor. Clinical Instructor. PhD. Francisco Talavera. Massachusetts General Hospital. Department of Internal Medicine. eMedicine. Senior Pharmacy Editor.

PATENT DUCTUS ARTERIOSUS Chavenia. Jacob Don .

 . The condition leads to abnormal blood flow between the aorta and pulmonary artery. two major blood vessels that carry blood from the heart.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.

It will usually close within a couple of days. If the ductus arteriosus does not close. .Blood flow    Before birth. Soon after the infant is born and the lungs fill with air. there will be abnormal blood circulation between the heart and lungs. this blood vessel is no longer needed. 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).

  PDA is more common in premature infants and those with neonatal respiratory distress syndrome. Infants with genetic disorders. PDA is common in babies with congenital heart problems. such as hypoplastic left heart syndrome. such as Down syndrome. and pulmonary stenosis . and whose mothers had rubella during pregnancy are at higher risk for PDA. transposition of the great vessels.

Symptoms         Bounding pulse Fast breathing Poor feeding habits Shortness of breath Sweating while feeding Tiring very easily Poor growth .

In full-term infants.  . Premature babies have a high rate of closure within the first 2 years of life.Treatment  Sometimes. a PDA may close on its own. 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.  . This blocks blood flow through the vessel. The doctor passes a small metal coil or other blocking device through the catheter to the site of the PDA. Surgery may be needed if the catheter procedure does not work or cannot be used. Such endovascular coils have been used successfully as an alternative to surgery. 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. or infective endocarditis (an infection of the inner lining of the heart). pulmonary artery hypertension.

2007 Robbins and Cotran Pathologic Basis of Disease (8th edition). Bonow RO. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. Mo. WB Saunders. Louis. Braunwald E.Sources   Zipes DP. 2010 Saunders Elsevier  . Libby P. eds. 8th ed. St.

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