Ventricular Septal Defect

VSD is the most common cardiac malformation and accounts for 25% of
congenital heart disease. Defects may occur in any portion of the
ventricular septum, but most are of the membranous type. These defects
are in a posteroinferior position, anterior to the septal leaflet of the tricuspid
valve. VSDs between the crista supraventricularis and the papillary muscle
of the conus may be associated with pulmonary stenosis and other
manifestations of tetralogy of Fallot (Chapter 424.1). VSDs superior to the
crista supraventricularis (supracristal) are less common; they are found
just beneath the pulmonary valve and may impinge on an aortic sinus and
cause aortic insufficiency. VSDs in the midportion or apical region of the
ventricular septum are muscular in type and may be single or multiple
(Swiss cheese septum)
Pathophysiology
The physical size of the VSD is a major, but not the only determinant of the
size of the left-to-right shunt. The level of pulmonary vascular resistance in
relation to systemic vascular resistance also determines the shunt's
magnitude. When a small communication is present (usually <5 mm), the
VSD is pressure restrictive, meaning that right ventricular pressure is
normal. The higher pressure in the left ventricle drives the shunt left to right
and the size of the defect limits the magnitude of the shunt. In
large nonrestrictive VSDs (usually >10 mm), right and left ventricular
pressures are equalized. In these defects, the direction of shunting and the
shunt magnitude are determined by the ratio of pulmonary to systemic
vascular resistance (Fig. 420-7).
Figure 420-7 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 middiastolic 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).

After birth in patients with a large VSD, pulmonary vascular resistance may
remain elevated, delaying the normal postnatal decrease, and thus the
size of the left-to-right shunt may initially be limited. Because of normal
involution of the media of small pulmonary arterioles, pulmonary vascular
resistance begins to fall in the 1st few weeks after birth and the size of the
left-to-right shunt increases. Eventually, a large left-to-right shunt develops,
and clinical symptoms become apparent. In most cases during early
infancy, pulmonary vascular resistance is only slightly elevated, and the
major contribution to pulmonary hypertension is the large communication
allowing exposure of the pulmonary circulation to systemic pressure and
the large pulmonary blood flow. With continued exposure of the pulmonary
vascular bed to high systolic pressure and high flow, pulmonary vascular
obstructive disease eventually develops. When the ratio of pulmonary to
systemic resistance approaches 1:1, the shunt becomes bidirectional,
signs of heart failure abate, and the patient begins to show signs of
cyanosis (Eisenmenger physiology, Chapter 427.2). In rare infants with a
large VSD, usually those with Down syndrome, pulmonary vascular
resistance never decreases, and symptoms may remain minimal until
Eisenmenger physiology becomes evident.
The magnitude of intracardiac shunts is usually described by the Qp:Qs
ratio. If the left-to-right shunt is small (Qp:Qs <1.5:1), the cardiac
chambers are not appreciably enlarged and the pulmonary vascular bed is
probably normal. If the shunt is large (Qp:Qs >2:1), left atrial and
ventricular volume overload occurs, as does right ventricular and
pulmonary arterial hypertension. The main pulmonary artery, left atrium,
and left ventricle are enlarged.
Clinical Manifestations
The clinical findings of patients with a VSD vary according to the size of
the defect and pulmonary blood flow and pressure. Small VSDs with trivial
left-to-right shunts and normal pulmonary arterial pressure are the most
common. These patients are asymptomatic, and the cardiac lesion is
usually found during routine physical examination. Characteristically, a
loud, harsh, or blowing holosystolic murmur is present and heard best over
the lower left sternal border, and it is frequently accompanied by a thrill. In
a few instances, the murmur ends before the 2nd sound, presumably
because of closure of the defect during late systole. A short, harsh systolic
murmur localized to the apex in a neonate is often a sign of a tiny VSD in
the apical muscular septum. In premature infants, the murmur may be
heard early because pulmonary vascular resistance decreases more

rapidly.
Large VSDs with excessive pulmonary blood flow and pulmonary
hypertension are responsible for dyspnea, feeding difficulties, poor growth,
profuse perspiration, recurrent pulmonary infections, and cardiac failure in
early infancy. Cyanosis is usually absent, but duskiness is sometimes
noted during infections or crying. Prominence of the left precordium is
common, as are a palpable parasternal lift, a laterally displaced apical
impulse and apical thrust, and a systolic thrill. The holosystolic murmur of a
large VSD is generally less harsh than that of a small VSD and more
blowing in nature because of the absence of a significant pressure gradient
across the defect. It is even less likely to be prominent in the newborn
period. The pulmonic component of the 2nd heart sound may be increased
as a result of pulmonary hypertension. The presence of a mid-diastolic,
low-pitched rumble at the apex is caused by increased blood flow across
the mitral valve and indicates a Qp:Qs ratio of 2:1. This murmur is best
appreciated with the bell of the stethoscope.
Diagnosis
In patients with small VSDs, the chest x-ray is usually normal, although
minimal cardiomegaly and a borderline increase in pulmonary vasculature
may be observed. The electrocardiogram is generally normal but may
suggest left ventricular hypertrophy. The presence of right ventricular
hypertrophy is a warning that the defect is not small and that the patient
has pulmonary hypertension or an associated lesion such as pulmonic
stenosis. In large VSDs, the chest x-ray shows gross cardiomegaly with
prominence of both ventricles, the left atrium, and the pulmonary artery
(Fig. 420-8). Pulmonary vascular markings are increased, and frank
pulmonary edema, including pleural effusions, may be present. The
electrocardiogram shows biventricular hypertrophy; P waves may be
notched or peaked.
Figure 420-8 A, Preoperative roentgenogram in a patient with a ventricular
septal defect with a large left-to-right shunt and pulmonary hypertension.
Significant cardiomegaly, prominence of the pulmonary arterial trunk, and
pulmonary overcirculation are evident. B, Three years after surgical
closure of the defect, heart size is markedly decreased, and the pulmonary
vasculature is normal.
The two-dimensional echocardiogram (Fig. 420-9) shows the position and
size of the VSD. In small defects, especially those of the muscular septum,
the defect itself may be difficult to image and is visualized only by color
Doppler examination. In defects of the membranous septum, a thin

membrane (called aventricular septal aneurysm but consisting of tricuspid

valve tissue) can partially cover the defect and limit the volume of the leftto-right shunt. Echocardiography is also useful for estimating shunt size by
examining the degree of volume overload of the left atrium and left
ventricle; in the absence of associated lesions, the extent of their
increased dimensions is a good reflection of the size of the left-to-right
shunt. Pulsed Doppler examination shows whether the VSD is pressure
restrictive by calculating the pressure gradient across the defect. Such
calculation allows an estimation of right ventricular pressure and helps
determine whether the patient is at risk for the development of early
pulmonary vascular disease. The echocardiogram can also be useful to
determine the presence of aortic valve insufficiency or aortic leaflet
prolapse in the case of supracristal VSDs.
Figure 420-9 Echocardiogram in a patient with a perimembranous
ventricular septal defect (VSD). A, Apical four-chamber view showing the
location of the defect (outlined between two crosshatches) beneath the
aortic valve. B, Color Doppler imaging shows the left-to-right
shunt (arrow) through the defect (the red color represents blood moving
toward the ultrasound transducer and does not indicate the level of
oxygenation of the blood). LA, left atrium; LV, left ventricle; RA, right
atrium; RV, right ventricle.
The hemodynamics of a VSD can also be demonstrated by cardiac
catheterization, although catheterization is today performed only when
laboratory data do not fit well with the clinical findings or when pulmonary
vascular disease is suspected. Oximetry demonstrates increased oxygen
content in the right ventricle; because some defects eject blood almost
directly into the pulmonary artery (streaming), the full magnitude of the
oxygen saturation increase is occasionally apparent only when pulmonary
arterial blood is sampled. Small, restrictive VSDs are associated with
normal right heart pressures and pulmonary vascular resistance. Large,
nonrestrictive VSDs are associated with equal or nearly equal pulmonary
and systemic systolic pressure and variable elevations in pulmonary
vascular resistance. Pulmonary blood flow may be 2 to 4 times systemic
blood flow. In patients with such hyperdynamic pulmonary hypertension,
pulmonary vascular resistance is only minimally elevated because
resistance is equal to pressure divided by flow. However, if left untreated
until Eisenmenger syndrome is present, pulmonary artery systolic and
diastolic pressure will be elevated but the degree of left-to-right shunting
minimal. In these cases, desaturation of blood in the left ventricle is usually
encountered. The size, location, and number of ventricular defects can be
demonstrated by left ventriculography. Contrast medium passes across the

defect or defects to opacify the right ventricle and pulmonary artery.

Administration of 100% oxygen with and without nitric oxide can be used to
determine whether the pulmonary vascular resistance, if elevated, is still
reactive and therefore more likely to drop after surgical repair.
Treatment
The natural course of a VSD depends to a large degree on the size of the
defect. A significant number (30-50%) of small defects close
spontaneously, most frequently during the 1st 2 yr of life. Small muscular
VSDs are more likely to close (up to 80%) than membranous VSDs (up to
35%). The vast majority of defects that close do so before the age of 4 yr,
although spontaneous closure has been reported in adults. VSDs that
close often have ventricular septal aneurysm (accessory tricuspid valve)
tissue that limits the magnitude of the shunt. Most children with small
defects remain asymptomatic, without evidence of an increase in heart
size, pulmonary arterial pressure, or resistance. A long-term risk is infective
endocarditis. Some long-term studies of adults with unoperated small
VSDs show an increased incidence of arrhythmia, subaortic stenosis, and
exercise intolerance. The Council on Cardiovascular Disease in the Young
of the American Heart Association states that an isolated, small,
hemodynamically insignificant VSD is not an indication for surgery. The
declining risk of open heart surgery has led others to suggest that all VSDs
be closed electively by mid-childhood.
It is less common for moderate or large VSDs to close spontaneously,
although even defects large enough to result in heart failure may become
smaller and up to 8% may close completely. More commonly, infants with
large defects have repeated episodes of respiratory infection and heart
failure despite optimal medical management. Heart failure may be
manifested in many of these infants primarily as failure to thrive.
Pulmonary hypertension occurs as a result of high pulmonary blood flow.
These patients are at risk for pulmonary vascular disease if the defect is
not repaired during early infancy.
Patients with VSD are also at risk for the development of aortic valve
regurgitation, the greatest risk occurring in patients with a supracristal VSD
(Chapter 420.7). A small number of patients with VSD develop acquired
infundibular pulmonary stenosis,which then protects the pulmonary
circulation from the short-term effects of pulmonary overcirculation and the
long-term effects of pulmonary vascular disease. In these patients, the
clinical picture changes from that of a VSD with a large left-to-right shunt to
a VSD with pulmonary stenosis. The shunt may diminish in size, become
balanced, or even become a net right-to-left shunt. These patients must be

carefully distinguished from those in whom an Eisenmenger physiology

develops (Chapter 427.2).
In patients with small VSDs, parents should be reassured of the relatively
benign nature of the lesion, and the child should be encouraged to live a
normal life, with no restrictions on physical activity. Surgical repair is
currently not recommended. As protection against infective endocarditis,
the integrity of primary and permanent teeth should be carefully
maintained; with the latest revision of the American Heart Association
guidelines, antibiotic prophylaxis is no longer recommended for dental
visits or surgical procedures (Chapter 431). These patients can be
monitored by a combination of clinical examination and noninvasive
laboratory tests until the VSD has closed spontaneously.
Echocardiography is used to estimate pulmonary artery pressure, screen
for the development of left ventricular outflow tract pathology (subaortic
membrane or aortic regurgitation), and to confirm spontaneous closure.
In infants with a large VSD, management has 2 aims: to get the symptoms
of heart failure under control (Chapter 436) and prevent the development
of pulmonary vascular disease. If early treatment is successful, sometimes
the shunt may diminish in size with spontaneous improvement, especially
during the 1st yr of life. The clinician must be alert not to confuse clinical
improvement caused by a decrease in defect size with clinical changes
caused by the development of Eisenmenger physiology. Because surgical
closure can be carried out at low risk in most infants, medical management
should not be pursued in symptomatic infants after an initial unsuccessful
trial. Since pulmonary vascular disease can usually be prevented when
surgery is performed within the 1st yr of life, even infants with well
controlled heart failure should not have surgery delayed inordinately unless
there is evidence that the defect is becoming pressure restrictive.
Indications for surgical closure of a VSD include patients at any age with
large defects in whom clinical symptoms and failure to thrive cannot be
controlled medically; infants between 6 and 12 mo of age with large
defects associated with pulmonary hypertension, even if the symptoms are
controlled by medication; and patients older than 24 mo with a Qp:Qs
ratio greater than 2:1. Patients with a supracristal VSD of any size are
usually referred for surgery because of the high risk for aortic valve
regurgitation (Chapter 420.7). Severe pulmonary vascular disease
nonresponsive to pulmonary vasodilators is a contraindication to closure of
a VSD.

Prognosis
The results of primary surgical repair are excellent, and complications
leading to long-term problems (residual ventricular shunts requiring
reoperation or heart block requiring a pacemaker) are rare. Pulmonary
arterial palliative banding with repair in later childhood, once the standard
of care, is now reserved for extremely complicated cases or very
premature infants. Surgical risks are somewhat higher for defects in the
muscular septum, particularly apical defects and multiple (Swiss cheese
type) VSDs. These patients may require pulmonary arterial banding if
symptomatic, with subsequent debanding and repair of multiple VSDs at
an older age. Catheter occlusion devices are in clinical trials as a means of
closing apical muscular VSDs and other devices are being tested for
closing the more common perimembranous defects. Sometimes these
devices are placed during surgery in what is known as a hybrid approach
to repair.
After surgical obliteration of the left-to-right shunt, the hyperdynamic heart
becomes quiet, cardiac size decreases toward normal (see Fig. 420-8),
thrills and murmurs are abolished, and pulmonary artery hypertension
regresses. The patient's clinical status improves markedly. Most infants
begin to thrive, and cardiac medications are no longer required. Catch-up
growth occurs in most patients within the next 1-2 yr. In some instances
after successful surgery, systolic ejection murmurs of low intensity persist
for months. The long-term prognosis after surgery is excellent. Patients
with a small VSD and those who have undergone surgical closure without
residua are considered to be at standard risk for health and life insurance