CONGENITAL

HEART
DISEASE
MA. LOUELLA H. QUIJANO, MD
HUMAN HEART
CARDIAC DEVELOPMENT
Components of the Heart Tube
CARDIAC SEPTATION: 4-8
weeks
FORMATION OF INTERATRIAL SEPTUM

(Partition of the Primitive Atrium)
DEVELOPMENTAL PATHOLOGY

(Atrial Septal Development)

Patent Foramen Ovale

Atrial Septal Defect (ASD)
- Sinus venosus
- Ostium primum
- Ostium secundum
PATENT FORAMEN OVALE
Functional closure at birth by
fusion of septum primum and
secundum
Residual “probe patency” is a
common normal variant in
approximately 25% of people
Clinical implications
persist into adulthood
Right-to-left shunting
paradoxical embolization
Cryptogenic stroke
ATRIAL SEPTAL DEFECT
-is a common cardiac anomaly that may be first
encountered
in the adult
- occurs more frequently in females
- 4 morphologies:
1. ostium primum
2. ostium secundum
3. sinus venosus
4. coronary sinus defects
ATRIAL SEPTAL DEFECT 1. Sinus venosus ASD - occurs high in
the atrial septum near the entry of the
superior vena cava into the right atrium
- associated frequently with anomalous
pulmonary venous connection from the
right lung to the superior vena cava or
right atrium

2. Ostium primum ASDs - lie adjacent

to the atrioventricular valves, either of
which may be deformed and regurgitant
common in Down’s syndrome, often as
part of complex atrioventricular septal
defects with a common atrioventricular
valve and a posterior defect of the basal
portion of the interventricular septum.

3. Ostium secundum - The most

common ASD, involves the fossa ovalis
and is midseptal in location
 ASD: PATHOPHYSIOLOGY
-Functional and anatomic patency of the
atrial
septum
- Left-to-right shunting
• Degree of left-to-right-shunting depends on:
- size of the defect
- ventricular diastolic properties
- increased left-to-right shunt: conditions causing reduced left
ventricular
compliance ( e.g. systemic hpn, cardiomyopathy, MI) and
increased
left atrial pressure
- decreased left-to right- shunt: similar forces are present on the right
side of
the heart --------- promote right-to left shunting -------
Eisenmenger
ASD: Signs and symptoms
-Qp/Qs > 1.5: 1 – usually starts to
have symptoms
- effort-related dyspnea -Right-to-left shunt
- palpitations ( arrhythmias) (Eisenmenger
- chest tightness, SOB syndrome) –
- paradoxical embolism (TIA, - right heart failure
stroke) --- can call attention - cyanosis
to the diagnosis
- Qp/Qs > 2:1 –
-congestive heart failure
- failure to thrive in an infant
or adult
PHYSICAL EXAMINATION
- prominent RV impulse and - These findings are altered when
palpable pulmonary artery increased pulmonary vascular
pulsation resistance causes diminution of
- S1 : normal or split, with the left-to-right shunt
accentuation of the tricuspid valve -Both the pulmonary outflow and
closure sound tricuspid inflow murmurs decrease
- S2 : widely and fixed split in in intensity, the pulmonic
relation to respiration, component of the second heart
auscultatory HALLMARK of ASD sound and a systolic ejection
( A2 > P2) sound are accentuated, the two
components of the second heart
- A mid-diastolic rumbling murmur, sound may fuse, and a diastolic
loudest at the fourth intercostal murmur of pulmonic regurgitation
space and along the left sternal
appears.
border, reflects increased flow
across the tricuspid valve.


ECG: 


Ostium secundum ASD: Ostium primum ASD: the RV

conduction defect is
- right-axis deviation accompanied by left
- rSr´ pattern in the right superior axis deviation and
counterclockwise rotation of
precordial leads the frontal plane QRS loop.
representing enlargement
of the RV outflow tract Varying degrees of RV and
right atrial (RA) enlargement
- ectopic atrial or hypertrophy may occur
pacemaker or first-degree with each type of defect,
heart block may occur depending on the presence
with the sinus venous and degree of pulmonary
ASD hypertension
CHEST XRAY:


-enlarged RA and RV,

and pulmonary artery
and its branches;
increased pulmonary
vascular markings of
left-to-right shunt
vascularity will
diminish if pulmonary
vascular disease
develops.
Echocardiogram
-The ASD may be - FINDINGS:
visualized directly by :
- echo drop-out
- two-dimensional imaging - pulmonary arterial and RV
- color-flow imaging and RA dilatation with
abnormal (paradoxical)
- echocontrast ventricular septal motion in
the presence of a significant
- transesophageal right heart volume overload
echocardiography (TEE)
ASD: TREATMENT
oOPERATIVE REPAIR for uncomplicated ASD with
significant with left-to-right shunting, i.e., pulmonary-to-
systemic flow ratios ≥1.5:1

- usually with a patch of pericardium or of prosthetic

material or percutaneous transcatheter device closure

◦ NOT CANDIDATE FOR CLOSURE: small defects, trivial left-

to-right shunts, with severe pulmonary hypertension (PAP
>80mmHg)
 ASD: TREATMENT
- Medical management should include prompt
treatment of respiratory tract infections;
antiarrhythmic medications for atrial fibrillation or
supraventricular tachycardia; and the usual measures
for hypertension, coronary disease, or heart failure ,
if these complications occur.
- pulmonary vasodilators for reduction of PAP and
resistance
- the risk of infective endocarditis is low, and
antibiotic prophylaxis is not recommended
PROGNOSIS:
- Patients with sinus venosus or ostium
secundum ASDs rarely die before the
fifth decade. During the fifth and sixth
decades, the incidence of progressive
symptoms, often leading to severe
disability, increases substantially
FORMATION of INTERVENTRICULAR SEPTUM 

(Partition of the Primitive Ventricle)
VENTRICULAR SEPTAL DEFECT
- is an abnormal opening in the ventricular septum, which
allows free communication between the Rt & Lt ventricles
- one of the most common of all cardiac birth defects, either as
an isolated defect or as a component of a combination of
anomalies
 VSD Morphologies
- 3 major
components of
the ventricular VSD are classified into 3 main categories
septum: inlet,
trabecular, outlet accdg to their locations and margins:
1. Muscular VSD – bordered entirely by
myocardium ( can be trabecular, inlet
or outlet
2. Membranous- bordered in part by
fibrous continuity between the leaflets
of the AV valve and an arterial valve
3. Doubly committed subarterial VSD-
situated in the outlet septum, bordere
by fibrous continuity of the aortic
and pulmonary valves
Natural History
•Small - moderate VSD, 3-6mm, are usually
asymptomatic and 50% will close
spontaneously
by age 2yrs.

• Moderate – large VSD, almost always have

symptoms and will require surgical repair.
HEMODYNAMICS
- pulmonary vascular bed - is often a principal determinant of
the clinical manifestations and course of a given VSD and
feasibility of surgical repair
➢ increased pulmonary blood flow and/or resistance

obstructive, obliterative structural changes within the

pulmonary vascular bed

Increased pulmonary arterial pressure

- It is important to quantitate and compare pulmonary-to-
systemic flows and resistances in patients with severe pulmonary
hypertension
Signs and symptoms
- Eisenmenger’s syndrome - applied to
patients with a large communication between
the two circulations at the aortopulmonary,
ventricular, or atrial levels and bidirectional
or predominantly right-to-left shunts because
of high resistance and obstructive pulmonary
hypertension
- exertional dyspnea, chest pain, syncope,
hemoptysis
- right-to-left shunt leads to cyanosis,
clubbing, and erythrocytosis
Physical Exam
•II-III/VI harsh holosystolic murmur heard
along the LSB, more prominent with small
VSD, maybe absent with a very Large VSD.

• Prominent P2, Diastolic murmur.

VSD: TREATMENT
-Operative correction or transcatheter closure
o is INDICATED when there is a moderate to large left-
to-right shunt with a pulmonary-to-systemic flow
ratio >1.5:1, in the absence of prohibitively high
levels of pulmonary vascular resistance (pulmonary
arterial resistance is less than two-thirds of systemic
arterial resistance).
oNOT recommended for patients with normal
pulmonary arterial pressures with small shunts
(pulmonary-to-systemic flow ratios of <1.5:1).
VSD: Complications and
Treatment
-Eisenmenger’s VSD - pulmonary arterial vasodilators
and both single- or double-lung transplantation with
intracardiac defect repair or heart/lung transplantation
show promise for improvement in symptoms
-Secondary erythrocytosis due to increased
erythropoietin production - therapeutic phlebotomy,
with only temporary relief
-Phlebotomy for symptoms of hyperviscosity not due to
dehydration or iron deficiency is a simple outpatient
removal of 500 mL of blood over 45 min with
isovolumetric replacement with isotonic saline. Acute
phlebotomy without volume replacement is
contraindicated
Formation of the Ventricular Outflow Tracts
and Septation of the Truncus Arteriosus


Development of ventriculoarterial (V-

A) connections and great
arteries. A, The bulbus cordis
separates the primitive ventricles from
the common outflow tract, the truncus
arteriosus, which gives rise to the
aortic arches. B, Development of the
conus cordis results in alignment of
the RV with the developing pulmonary
artery and the LV with the aorta. C,
Separation of the truncus arteriosus by
ingrowth of a spiral septum that
develops cephalad to caudad. D,
Separation of the aorta and pulmonary
artery is complete.
Developmental Pathology


Abnormal conal development can result in:

- Tetralogy of Fallot (TOF)
- abnormal connections between the great
vessels and the ventricles
- truncus arteriosus
- transposition of the great arteries
- double outlet RV, or double outlet
LV
 Tetralogy of Fallot
- occurs when anterior
displacement of the conal
septum results in
1. narrowed pulmonary
outflow tract – obstruction
to RV outflow
2. RV hypertrophy
3. inability of the
ventricular septum to close
( malaligned VSD)
4. an abnormally placed
aorta, overriding the VSD
HEMODYNAMICS
-The relationship between the resistance of
blood flow from the ventricles into the aorta
and into the pulmonary artery plays a major
role in determining the hemodynamic and
clinical picture

- When the RV outflow obstruction is severe,

pulmonary blood flow is reduced markedly, and
a large volume of desaturated systemic venous
blood shunts right-to-left across the VSD
SIGNS and SYMPTOMS
-Severe cyanosis
- erythrocytosis
- symptoms of
severe systemic
hypoxemia are
prominent
- In many infants
and children, the
obstruction is mild
but progressive.
DIAGNOSIS
•ECG- RV hypertrophy
•Chest x-ray- normal-sized, boot-
shaped heart (coeur en sabot) with a
prominent RV and a concavity in the
region of the pulmonary conus
- Pulmonary vascular markings are
typically diminished, and the aortic arch
and knob may be on the right side
•
DIAGNOSIS
•Echocardiography demonstrates the malaligned
VSD with the overriding aorta and the site and
severity of PS, which may be subpulmonic (fixed
or dynamic), at the pulmonary valve or in the
main or branch pulmonary arteries
•Classic contrast angiography- provide details
regarding the RV outflow tract, pulmonary valve
and annulus, and caliber of the main branches
of the pulmonary artery, as well as about
possible associated aortopulmonary collaterals
DIAGNOSIS
•Coronary arteriography identifies the
anatomy and course of the coronary arteries,
which may be anomalous
• Cardiac MRI and CT complement
echocardiography and provide much of the
information gathered by angiography as well
as additional functional information.
• MRI is considered the clinical gold standard
for quantification of RV volume and function
as well as quantification of the pulmonary
regurgitation severity.
TOF: TREATMENT
o Surgical Intervention

classical transventricular approach transatrial-transpulmonary approach 

 TRUNCUS ARTERIOSUS
- occurs when there is
atresia of the subpulmonary
conus, with absence of the
pulmonary valve, resulting
in a common vessel through
which blood flows out of the
heart to both pulmonary and
systemic circulations.
-  Because the absent or
hypoplastic truncal cushions
cannot meet the conal
tissue, an obligatory VSD is
present.
Transposition of the Great
Arteries
- is believed to result from variations in differential
growth of the aortic and pulmonary conus
- D-transposition
= due to persistence and overgrowth of the
subaortic conus and resorption of the subpulmonary
conus
- aortic valve elevates superiorly, protruding
anteriorly above the RV and causes aortic-tricuspid
valve fibrous discontiguity.
- The pulmonary valve stays posterior and
inferior, above the posterior LV, and in direct fibrous
contiguity with the mitral valve.
- more common in males
- accounts for ~10% of cyanotic heart disease
- the course is determined by the:
1. degree of tissue hypoxemia
2. the ability of each ventricle to sustain an
increased
workload in the presence of reduced coronary
arterial
oxygenation
3. the nature of the associated cardiovascular
anomalies
4. the status of the pulmonary vascular bed

- Patients who do not undergo surgical palliation

generally do not survive to reach adulthood
TGA: TREATMENT
- SURGICAL
- balloon or blade catheter or surgical creation or
enlargement of an interatrial communication in the neonate is
the simplest procedure for providing increased intracardiac
mixing of systemic and pulmonary venous blood.
- Systemic pulmonary artery anastomosis may be indicated in the
patient with severe obstruction to LV outflow and diminished
pulmonary blood flow.
- Mustard or Senning operation- intraatrial switch
- arterial-switch operation
- Rastelli procedure
DOUBLE OUTLET RIGHT
VENTRICLE
The  results from variable development of both the subaortic
and subpulmonary conus, and failure of the conus to shift to the
center, with both great vessels arising from the primitive bulbus
cordis (eventually the RV)
 TAUSSIG-BING Syndrome
-cyanotic heart disease
Criteria:
1. Double outlet right
Ventricle (DOVR)
2. subpulmonic VSD
PATENT DUCTUS
ARTERIOSUS
The ductus arteriosus
is a vessel leading
from the bifurcation
of the pulmonary
artery to the aorta
just distal to the left
subclavian artery

Normally, the
vascular channel is
open in the fetus
but closes
immediately after
birth
PDA: HEMODYNAMICS
- In most adults with this anomaly, pulmonary
pressures are normal, and a gradient and shunt from
aorta to pulmonary artery persist throughout the
cardiac cycle, resulting in a characteristic thrill and a
continuous “machinery” murmur with late systolic
accentuation at the upper left sternal edge
- In adults who were born with a large left-to-right
shunt through the ductus arteriosus, pulmonary
vascular obstruction (Eisenmenger’s syndrome) with
pulmonary hypertension, right-to-left shunting, and
cyanosis have usually developed.
Severe pulmonary vascular disease results
in reversal of flow through the ductus;
unoxygenated blood is shunted to the
descending aorta; and the toes—but not the
fingers—become cyanotic and clubbed, a
finding termed differential cyanosis
PDA: Treatment
-In the absence of severe pulmonary vascular
disease and predominant left-to-right
shunting of blood, the patent ductus should
be surgically ligated or divided.
-Transcatheter closure has become common
for appropriately shaped defects.
-Operation should be deferred for several
months in patients treated successfully for
infective endocarditis because the ductus may
remain somewhat edematous and friable.
COARCTATION OF THE AORTA

Narrowing or
constriction of the
lumen of the aorta
may occur anywhere
along its length but is
most common distal
to the origin of the
left subclavian
artery near the
insertion of the
ligamentum arteriosum
CoA:
-Coarctation occurs in ~7% of patients with
CHD, is more common in males than females
- particularly frequent in patients with
gonadal dysgenesis (e.g., Turner’s syndrome).
-Clinical manifestations depend on the site
and extent of obstruction and the presence of
associated cardiac anomalies, most commonly
a bicuspid aortic valve
-Circle of Willis aneurysms may occur in up to
10%
CoA: signs and symptoms
- Headache, epistaxis, chest pressure, and
claudication with exercise
--heart murmur or hypertension in the upper
extremities and absence, marked diminution, or
delayed pulsations in the femoral arteries
- Enlarged and pulsatile collateral vessels may
be palpated in the intercostal spaces anteriorly,
in the axillae, or posteriorly in the interscapular
area
CoA: signs and symptoms
-The upper extremities and thorax may be more
developed than the lower extremities
-A midsystolic murmur over the left interscapular
space may become continuous if the lumen is
narrowed sufficiently to result in a high-velocity
jet across the lesion throughout the cardiac cycle
- Additional systolic and continuous murmurs
over the lateral thoracic wall may reflect
increased flow through dilated and tortuous
collateral vessels
 DIAGNOSTICS
- ECG usually reveals LV
hypertrophy.
- Chest x-ray
- may show a dilated left
subclavian artery high on the
left mediastinal border and - Indentation of the
a dilated ascending aorta aorta at the site of
coarctation and pre-
and poststenotic
dilatation (the “3” sign)
along the left
paramediastinal shadow
are essentially
pathognomonic
Notching of the third to ninth ribs, an
important radiographic sign, is due to inferior
rib erosion by dilated collateral vessels
Two-dimensional echocardiography from
suprasternal windows identifies the site
of coarctation; Doppler quantitates the
pressure gradient

Transesophageal echocardiography and

MRI or CT allow visualization of the
length and severity of the obstruction
and associated collateral arteries.
In adults, cardiac catheterization is
indicated primarily to evaluate the
coronary arteries or to perform catheter-
based intervention (angioplasty and stent
of the coarctation).
COMPLICATIONS
❑ from proximal aortic severe hypertension:
- cerebral aneurysms and hemorrhage
- aortic dissection and rupture
- premature coronary arteriosclerosis
- aortic valve failure, and LV failure
- infective endarteritis may occur on the
coarctation site or endocarditis may settle on
an associated bicuspid aortic valve, which is
estimated to be present in 50% of patients.
TREATMENT:
- surgical or involves percutaneous
catheter balloon dilatation with stent
placement
Other congenital defects:
- Congenital aortic stenosis - valvular,
subvalvular, supravalvular
-Pulmonary stenosis/ atresia
-Single ventricle
-- tricuspid atresia
-- Ebsteins anomaly
-- malposition of the heart
Ebstein Anomaly
Endocarditis Prophylaxis
Two major predisposing causes of
infective endocarditis

1. susceptible cardiovascular
substrate
2. a source of bacteremia
Endocarditis Prophylaxis
- Routine antimicrobial prophylaxis is recommended
for bacteremic dental procedures or instrumentation
through an infected site in most patients with
operated CHD, particularly if foreign material, such as
a prosthetic valve, conduit, or surgically constructed
shunt, is in place.
- In the case of patches, in the absence of a high-
pressure patch leak, or transcatheter devices,
prophylaxis is usually recommended for 6 months until
there is endothelialization.
- Individuals with unrepaired cyanotic heart disease
are also generally recommended to receive
prophylaxis