Ventricular Septal Defect

BASIC INFORMATION

SYNONYMS
VSD
ICD-9CM CODES
745.4 Ventricular septal defect
ICD-10 CODES
Q21.0 Ventricular septal defect

EPIDEMIOLOGY &
DEMOGRAPHICS
VSDs are one of the most common congenital
heart abnormalities, accounting for 30% of all
congenital cardiac defects.


VSD accounts for 25% of all congenital
heart defects in children and for approximately 10% of defects in adults (the decrease
is a result of spontaneous closure that occurs
by adulthood).
The prevalence of VSD is 3 to 3.5 infants per
1000 live births and 0.5/1000 adults.
VSD is found with equal frequency among
both males and females.
VSD may be associated with the following
conditions:
Atrial septal defect (35%)
Patent ductus arteriosus (22%)
Coarctation of the aorta (17%)
Subvalvular aortic stenosis (4%)

Subpulmonic stenosis, usually associated with progressive aortic regurgitation
caused by prolapse of the aortic cusp
through the defect


Multiple VSDs are more prevalent among
patients with tetralogy of Fallot and doubleoutlet right ventricular defects.

flow into the lungs, the left atrium, and the

left ventricle, which can potentially cause
left ventricular volume overload. Tachypnea,
failure to thrive, and congestive heart failure
may then ensue.
In adults with VSD, the shunt is left to right in
the absence of pulmonary stenosis and pulmonary hypertension. Patients typically manifest
symptoms of left-sided heart failure from left
ventricular volume overload (e.g., shortness of
breath, orthopnea, dyspnea on exertion).
A spectrum of physical findings may be seen,
including the following:
Machinelike holosystolic murmur that is
heard best along the left sternal border
Murmur becomes shorter as right heart
pressures increase
Systolic thrill
Mid-diastolic rumble heard at the apex
S3 heart sound
Rales
With the development of pulmonary hypertension, the following occur:
An augmented pulmonic component of the
S2 heart sound
Cyanosis, clubbing, right ventricular heave,
and signs of right heart failure (i.e., as seen
with Eisenmengers complex, with a reversal of the shunt in a right-to-left direction)

ETIOLOGY
VSD is usually congenital but can be acquired.


Acquired VSD may result from postsurgical residual leak, trauma, or myocardial
infarction.
Postinfarct ventricular septal defect (PIVSD)
typically occurs 1 to 5 days after the event
in 0.2% of patients in the current fibrinolytic,
primary angioplasty era.

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FIGURE V1-20 Physiology of a large ventricular septal defect (VSD).Circled numbers represent
oxygen saturation values. The numbers next to the arrows represent volumes of blood flow (in L/min/m2).
This illustration shows a hypothetical patient with a pulmonary-to-systemic blood flow ratio (Qp:Qs) of 2:1.
Desaturated blood enters the right atrium from the vena cava at a volume of 3 L/min/m2 and flows across the
tricuspid valve. An additional 3 L of blood shunts left to right across the VSD, the result being an increase in
oxygen saturation in the right ventricle. Six liters of blood is ejected into the lungs. Pulmonary arterial saturation
may be further increased because of incomplete mixing at right ventricular level. Six liters returns to the left
atrium, crosses the mitral valve, and causes a mid-diastolic flow rumble. Three liters of this volume shunts left
to right across the VSD, and 3 L is ejected into the ascending aorta (normal cardiac output). (From Kliegman
RM etal: Nelson textbook of pediatrics, ed 19, Philadelphia, 2011, Saunders.)

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Diseases
and Disorders

DEFINITION
Ventricular septal defect (VSD) refers to
an abnormal communication through the
septum that separates the right and left ventricles of the heart.
VSDs may be large or small, single or multiple.
VSDs are located at various anatomic regions
of the septum and classified as follows:
Membranous (75% to 80%): This is the
most common type of defect, and it
extends into the membranous portion of
the interventricular septum. The septal
leaflet of the tricuspid valve may become
adherent and form a pouch of the septum that can limit the left-to-right shunting
and lead to self-closure.
Muscular or trabecular (5% to 20%): This
defect is entirely surrounded by muscular
tissue. Spontaneous closure is common.
Canal or inlet (8%): This defect commonly
lies beneath the septal leaflet of the tricuspid valve; associated with Down syndrome.
Subarterial, outlet, infundibular, or supracristal (5% to 7%): This is the least common
type of defect. It is usually found beneath
the aortic valve, and it may lead to aortic
regurgitation. High prevalence in Asian
population.

PHYSICAL FINDINGS & CLINICAL

PRESENTATION
Clinical presentation depends on the direction and volume of the VSD shunt, which is
dictated by the size of the defect and the
ratio of the pulmonary vascular resistance.
Fig. V1-20 illustrates the physiology of VSD.
Defects of 25% of the aortic annulus
diameter are small defects. These typically involve small left-to-right shunts, no
left ventricular volume overload, and no
pulmonary artery hypertension (PAH).

Defects that are 25% to 75% of aortic annulus diameter are considered to
be moderate in size. Small to moderate
left-to-right shunting, mild to moderate
left ventricular volume overload, and mild
or no pulmonary artery hypertension are
seen. Patients may have symptoms of
congestive heart failure that may improve
with medical therapy or with age as
the defect decreases in size relative to
increasing body size.
Defects of 75% of the aortic annulus diameter usually have moderate to
large left-to-right shunting, left ventricular
volume overload, and pulmonary artery
hypertension. These patients usually have
a history of congestive heart failure, or
they may possibly develop right-to-left
shunting in the setting of Eisenmengers
syndrome during late childhood, adolescence, or young adulthood.
Infants may be asymptomatic at birth because
of elevated pulmonary artery resistance.
During the first few weeks of life, pulmonary
arterial resistance decreases, thereby allowing for more left-to-right shunting through the
VSD. This results in a subsequent increase in

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Ventricular Septal Defect

DIAGNOSIS
The diagnosis of VSD can be suspected during a physical examination. Imaging studies
particularly transthoracic echocardiography
with color Dopplerestablish the diagnosis.

DIFFERENTIAL DIAGNOSIS
On the basis of the physical examination alone,
the diagnosis of VSD may be confused with
other causes of systolic murmurs, such as
mitral regurgitation, tricuspid regurgitation, aortic stenosis, pulmonary stenosis, and hypertrophic cardiomyopathy.
WORKUP
Any person who is suspected of having a VSD
should undergo an ECG, a chest radiograph, and
an echocardiogram.
LABORATORY TESTS
Laboratory tests are not specific but may
offer insight into the severity of the disease.
The CBC may show polycythemia, especially
in patients with Eisenmengers complex.
Arterial blood gas results may demonstrate
hypoxemia.
IMAGING STUDIES
ECG findings vary in accordance with the
size of the VSD and depending on whether
pulmonary hypertension is present. With large
VSDs with pulmonary hypertension, right-axis
deviation is seen, along with evidence of right
ventricular hypertrophy.

Chest x-ray findings in patients with VSD
include the following:
Cardiomegaly that results from left ventricular volume overload that directly
relates to the magnitude of the shunt
The enlargement of the proximal pulmonary arteries along with the redistribution
and pruning of the distal pulmonary vessels as a result of sustained pulmonary
hypertension (Fig. V1-21A)
Echocardiography is the imaging modality of
choice for the diagnosis of VSD:

Two-dimensional echocardiography and
color Doppler display the size and location of the VSD (Fig. V1-21B), the chamber
sizes, ventricular function, the presence of
aortic valve prolapse or regurgitation, outflow tract obstruction, and the presence of
tricuspid regurgitation.

Continuous-wave Doppler approximates
the gradient between the left and right
ventricles and estimates the pulmonary
artery pressure.
The magnitude of the shunt can be determined by the calculation of the pulmonary-to-systemic flow ratio with the use of
echocardiography.
Heart catheterization is primarily indicated to
assess operability of VSD patients with PAH
based on their pulmonary vascular resistance
(PVR), and in patients in whom the noninvasive
testing was inconclusive, and further information, such as quantification of shunting

FIGURE V1-21 A, Chest roentgenogram of a child with a large ventricular septal defect, large pulmonary blood
flow, and pulmonary hypertension but only mild elevation of peripheral vascular resistance. This is reflected
in the evidence of left and right ventricular enlargement, the enlargement of the main pulmonary artery, and a
marked increase in pulmonary blood flow. B, Apical four-chamber echocardiographic view of ventricular septal
defect (large arrow). The small arrow points to the interatrial septum. LA, Left atrium; LV, left ventricle; RA, right
atrium; RV, right ventricle. (A from Pacifico AD etal: Surgical treatment of ventricular septal defect. In Sabiston
DC Jr, Spencer FC [eds]: Surgery of the chest, ed 5, Philadelphia, 1990, Saunders. B courtesy of Richard Humes,
M.D., Childrens Hospital of Michigan, Detroit.)

and assessment of pulmonary pressures, is

required.
Ventriculography may help to locate the VSD:

MRI and computed tomography scanning
can be useful to assess the pulmonary artery,
the pulmonary vein, and the aortic anatomy
and to confirm the anatomy of unusual VSDs
(e.g., inlet or apical defects) that are not seen
well with echocardiography.

TREATMENT
The decision to close a VSD depends on the type,
size, and shunt severity as well as the patients
pulmonary vascular resistance, functional
capacity, and associated valvular abnormalities.

NONPHARMACOLOGIC THERAPY


Young children and adults with a small,
asymptomatic VSD with a large left-to-right
ventricular pressure gradient, a pulmonaryto-systemic blood flow ratio of less than 1.5:1,
and no evidence of pulmonary hypertension
can be observed (i.e., restrictive defect).
Oxygen for hypoxemia and a low-salt diet are
recommended for patients with congestive
heart failure.
ACUTE GENERAL & CHRONIC Rx
Closure of the VSD is indicated for the following
patients:


Infants with congestive heart failure.
Unrestrictive VSDs require surgical intervention within the first 2 yr of life to prevent
pulmonary hypertension.
Children between the ages of 1 and 6 yr with
persistent VSD and a pulmonary-to-systemic
blood flow ratio (Qp/Qs) of >2:1
Adults with a Qp/Qs of 2 and clinical evidence
of left ventricular volume overload (class I):

Positive history of infective endocarditis
(IE) (class I)
Adults with a Qp/Qs of >1.5 with pulmonary
artery pressure that is less than two thirds of
the systemic pressure and pulmonary vascular resistance that is less than two thirds
of the systemic vascular resistance (class IIa)

A dults with a Qp/Qs of >1.5 in the presence of left ventricular systolic or diastolic
failure (class IIa)
Surgical closure is not indicated for VSD
with severe irreversible PAH with high PVR.
Although the exact PVR at which a child
with VSD and pulmonary arterial hypertension is considered inoperable has not been
determined, the consensus is that a PVR of
<4 wood units is considered optimal. PVR
between 4-8 wood units is considered on
a case-by-case basis. There are no definitive guidelines on the use of vasoreactivity
as a preoperative predictor, though >20%
decrease in PVR during vasodilator testing
is considered a positive response.
Surgical closure with Dacron or Gore-Tex
patches or primary surgical closure has long
been the gold standard of therapy. It has
low operative mortality (<2%) at experienced
centers. However, surgery still carries a small
risk of complete heart block (CHB), postpericardiotomy syndrome, wound infection, and
neurologic sequelae related to cardiopulmonary bypass. Over the last two decades, the
transcatheter approach to VSD closure has
improved considerably and is becoming an
increasingly accepted modality of treatment
for appropriately selected patients. Some studies have shown similar success rates for both
surgical and percutaneous closures, and there
are significantly fewer complications, days in
the hospital, and blood transfusions after percutaneous closures.
Catheter-based closure in muscular VSD may
be considered, especially if the VSD is remote
from the tricuspid valve and the aorta, if the
VSD is associated with severe left-sided heart
chamber enlargement, or if there is PAH (class
IIb). Device closure is indicated in residual
defects after prior attempts at surgical closure,
restrictive VSDs with either a significant left-toright shunt (Qp/Qs >1.5:1) or hx of IE, trauma,
or iatrogenic artifacts after surgical replacement
of the aortic valve.
Surgery still remains the treatment of
choice in patients with large defects, coexistent

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Ventricular Septal Defect

DISPOSITION


The natural history of an isolated VSD
depends on the type of defect, its size, and
any associated abnormalities.
75% to 80% of small VSDs close spontaneously by the time the patient reaches the age
of 10 yr.
Only 10% to 15% of large VSDs will close
spontaneously.


Large VSDs that are left untreated may
lead to arrhythmias, congestive heart failure,
pulmonary hypertension, and Eisenmengers
complex.
Eisenmengers complex carries a poor prognosis, with most patients dying before the
age of 40 yr.
Issues to monitor in adults with unrepaired
or repaired and catheter-closed VSDs include
the following:
1. Development of aortic regurgitation
2. 
Assessment of associated coronary
artery disease
3. Development of tricuspid regurgitation
4. Assessment of the degree of left-to-right
shunting (in unrepaired or residual VSD
after repair)

5. Ventricular dysfunction
6. Assessment of pulmonary pressure
7. Development of subpulmonary stenosis
(usually as a result of a double-chambered right ventricle)
8. Development of discrete subaortic stenosis
9. 
Development of arrhythmia or heart
block
10. Thromboembolic complications
11. Infective endocarditis

After closure, late survival is excellent when

ventricular function is normal. Pulmonary
artery hypertension may improve, progress,
or remain the same. Late operations may be
required for tricuspid or aortic regurgitation.

REFERRAL
All infants and children diagnosed with VSD
should be referred to a pediatric cardiologist. Adults with VSD should be referred to
an adult cardiologist. Cardiothoracic surgeons
who have experience with congenital heart
disease surgery should be consulted if surgery
is indicated.
FOLLOW-UP
Adults with no residual VSD, no associated
lesions, and normal pulmonary artery pressure do not require continued follow-up at
a regional adult congenital heart disease
(ACHD) center except on referral from the
patients cardiologist or physician.
Adults with VSD with residual heart failure,
shunts, PAH, AR, or RV outflow tract (RVOT)
or LV outflow tract (LVOT) obstruction should
be seen at least annually at an ACHD regional
center (level of evidence: C).
Adults with a small residual VSD and no other
lesions should be seen every 3 to 5 yr at an
ACHD regional center (level of evidence: C).
Adults with device closure of a VSD should
be followed up every 1 to 2 yr at an ACHD
center depending on the location of the VSD
and other factors.


Patients who develop bifascicular block or
transient trifascicular block after VSD closure
are at risk in later years for the development of
complete heart block and should be followed
up yearly by history and ECG and have periodic
ambulatory monitoring and/or exercise testing.

PEARLS &
CONSIDERATIONS
COMMENTS
A loud murmur does not imply a large VSD.
Small, hemodynamically insignificant VSDs
can cause loud murmurs.
In patients with Eisenmengers complex, the
right-to-left shunting across the VSD is usually not associated with an audible murmur.
The risk of patients with unrepaired VSD
developing infective endocarditis is 4%.
The risk is higher if aortic insufficiency is
present.

For patients with endocarditis, routine antibiotic prophylaxis for dental or surgical procedures is no longer indicated for isolated
VSDs, except in the following circumstances:
1. 
In the presence of complex congenital
heart disease with cyanosis
2. In the presence of a residual VSD after
surgical closure
3. During the first 6 mo after surgical patch
or percutaneous transcatheter closure
Any patient with a newly diagnosed murmur
or hemodynamic compromise after a myocardial infarction should undergo evaluation
for possible VSD.


Pregnancy with a VSD is generally well
tolerated in women with small VSDs, no pulmonary artery hypertension, and no associated lesions. Women with large shunts may
experience arrhythmias, ventricular dysfunction, and the progression of pulmonary
hypertension.
1. Maternal use of valproic acid and phenytoin has also been suggested to cause
structural defects.


Women with VSDs and severe pulmonary
artery hypertension or Eisenmengers physiology should be counseled against pregnancy
because of associated excessive maternal
and fetal mortality.
1. Small perimembranous VSDs (without left
heart dilatation) and corrected VSDs have
a good prognosis during pregnancy, when
LV function is preserved. Prepregnancy
evaluation of the presence of a (residual) defect, cardiac dimensions, and an
estimation of pulmonary pressures is
recommended. Pre-eclampsia may occur
more often than in the normal population.
Usually follow-up twice during pregnancy
is sufficient, and spontaneous vaginal
delivery is appropriate.
Minimally invasive periventricular device closure of VSD without cardiopulmonary bypass
under guidance of transesophageal echocardiography is a promising technique, but it
needs long-term follow-up.

SUGGESTED READINGS
Available at www.expertconsult.com
RELATED CONTENT
Ventricular Septal Defect (VSD) (Patient
Information)
AUTHOR: RABIA ARSHAD, M.D.

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Diseases
and Disorders

congenital anomalies requiring surgical correction, and defects with close proximity to
the aortic valve. Sub-pulmonic VSDs may
require surgery due to the increased risk of
aortic valve prolapse. Perimembranous VSD
with more than trivial aortic regurgitation
should be referred to surgery. PIVSDs usually carry a high mortality rate, and surgical
closure remains the gold standard in the acute
setting or for large (>15 mm) septal ruptures.
In the subacute or chronic setting, small or
medium PIVSD (<15 mm) can be treated
with percutaneous closure with comparable
mortality to surgery. VSDs post myocardial
infarction generally arise within 1 wk of the
acute event. Surgical management within 10 d
has better outcomes than waiting for cardiac
stabilization.

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Ventricular Septal Defect

SUGGESTED READINGS
Attia R etal.: Which patients might be suitable for a septal occluder device closure
of postinfarction ventricular septal rupture rather than immediate surgery?
Interact Cardiovasc Thorac Surg 11:626629, 2010.
Butera G etal.: Percutaneous closure of ventricular septal defects. State of the art,
J Cardiovasc Med 8(1):3945, 2007.
Lopes AA etal.: Repair of Congenital Heart Disease with associated Pulmonary
Hypertension in children, Pulm Circ 4(2):330341, 2014.
Minette MS, Sahn DJ: Ventricular septal defects, Circulation 114(20):2190, 2006.
Penny DJ etal.: Ventricular septal defect, Lancet 9771(377):11031112, 2011.
Rosario MD etal.: Role of percutaneous interventions in adult congenital heart
disease, J Invasive Cardiol 20(12):671679, 2008.
Warnes CA etal.: ACC/AHA 2008 guidelines for the management of adults with
congenital heart disease, J Am Coll Cardiol 52(23):e143e263, 2008.
Wilson W etal.: Prevention of infective endocarditis, Guidelines from the American
Heart Association, Circulation 115:739, 2007.
Zheng Q etal.: A comparative study: early results and complications of percutaneous and surgical closure of ventricular septal defect, Cardiology
114(4):238243, 2009.

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