Received: 20 June 2019 | Revised: 18 September 2019 | Accepted: 26 September 2019

DOI: 10.1111/echo.14511

Echocardiographic evaluation of ventricular septal defects

Srishti Nayak MD, MPH1 | Akash Patel MD1 | Lana Haddad BS1 |
Mohammad Kanakriyeh MD1 | Padmini Varadarajan MD, FACC2

1
Loma Linda University Medical Center,
University of California, Riverside, California Abstract
2
Division of Cardiology, Loma Linda Ventricular septal defects (VSDs) are the most common forms of acyanotic congeni-
University Medical Center, Loma Linda,
tal heart disease accounting for 37% of congenital heart disease in children. A VSD
California
is defined by parts of the ventricular septum involved. There are four major types
Correspondence
of VSDs: perimembranous, muscular, outlet, and inlet VSDs. Echocardiography is
Padmini Varadarajan, MD, FACC, Division of
Cardiology, Loma Linda University Medical the most important clinical tool to help diagnose and characterize a VSD. Although
Center, Loma Linda, CA.
most VSDs are clinically nonsignificant or close on their own, echocardiography
Email: padrav2001@yahoo.com
with Doppler and color flow mapping can be used to provide accurate anatomic and
hemodynamic evaluation of VSDs in order to determine if surgical or transcatheter-
based intervention is needed. Hence, understanding how to use echocardiography
to characterize VSDs is of crucial importance when caring for patients with adult
congenital heart disease.

KEYWORDS

cardiac imaging, congenital heart defects, echocardiography, perimembranous ventricular

septal defect

1 | I NTRO D U C TI O N 50 years, the diagnosis, characterization, and management of

Ventricular septal defects (VSDs) are the most common forms
of acyanotic congenital heart disease found in children and the
second most common lesion found in adults.1,2 As of 2018, iso-
lated VSDs accounted for 37% of all congenital heart lesions in
children; occurring in approximately 0.3% of all newborns. 3 VSDs
were first identified and described in 1847 by Dalrymple on post-
4
mortem autopsy. A VSD is defined by parts of the septum in-
volved. Membranous and perimembranous VSDs are the most
common, making up about 80% of all VSDs. They are typically
located within the subaortic membranous ventricular septum.
Muscular VSDs are next in line accounting for about 5%-20% of
VSDs and are commonly located in the trabecular portion of the
septum. Inlet VSDs, accounting for approximately 8% of VSDs,
are primarily located in the posterior septum, hence, they are also
known as posterior or atrioventricular type VSDs. Lastly, suprac-
ristal VSDs or outlet VSDs are typically located in subpulmonary
conal septum and account for 5%-7% of cases. 5,6 Over the last
VSDs have evolved significantly.
Ventricular septal defects are most commonly diagnosed by echo-
cardiography either incidentally, after a murmur is heard or after a pa-
tient is symptomatic. Echocardiography with Doppler and color flow
mapping gives accurate anatomical and hemodynamic evaluation of
ventricular septal defects.7 Cardiac catheterization is rarely needed for
diagnosis; however, when it can be used to evaluate pulmonary and sys-
temic resistances and study the reactivity of pulmonary vascular bed
in order to determine feasibility of closure of VSD.2 Transesophageal
echocardiogram is usually utilized during transcatheter closure and in
intraoperative evaluation. This article will focus on transthoracic echo-
cardiography for evaluation of ventricular septal defects.
1.1 | Anatomy of the ventricular septum
A thorough understanding of the anatomy of the ventricular septum
is critical to categorize VSDs and optimize their management. The

Echocardiography. 2020;37:2185–2193. wileyonlinelibrary.com/journal/echo© 2019 Wiley Periodicals, Inc. | 2185

2186 | NAYAK et al.
ventricular septum is composed of four different components (sum-
marized visually in Figure 1):
1. The inlet septum (atrioventricular canal septum) that is smooth
walled, extends inferiorly and posteriorly adjacent to the septal
leaflet of the tricuspid valve to the distal septal attachment of
the tricuspid valve papillary muscles. The inlet septum extends
posteriorly from the membranous portion to the posterior wall
of the heart further closing the gap between the two atrio-
ventricular valves.
2. The trabecular septum is characterized by course trabeculations
on the right ventricular aspect and includes the moderator band.
The trabecular septum can be subdivided into three parts (apical,
mid muscular and high muscular).
3. The outlet (infundibular or conal) septum. Extends anteriorly from
the membranous septum straddling the crista superaventricularis.
4. The membranous septum is a fibrous portion of the ventricular
septum facing the tricuspid valve and a small portion of the right
atrium on the right side and the left ventricular outflow tract, just
below the aortic valve adjacent to the right coronary-noncoro-
nary commissure of the aortic valve on the left side.
Ventricular septal defects involving the membranous septum can
have an extension into surrounding parts of the ventricular septum
and therefore usually referred to as perimembranous ventricular
septal defects. Maligned VSDs commonly seen with conotruncal
malformation involve the membranous and conal septum as seen
in Tetralogy of Fallot and double outlet right ventricle (Figure 2).
Multiple ventricular septal defects are not uncommon. Multiple ven-
tricular septal defects in the muscular septum are rare and some-
times referred to as “swiss cheese” septum.
F I G U R E 1 membranous and conal septumOverview of the
anatomy of the ventricular septum as seen from the right ventricle.
Parts of the ventricle are labeled with various nomenclature used
Learning Points
• Ventricular septal defects (VSDs) are the most common
forms of acyanotic congenital heart disease accounting
for 37% of congenital heart disease in children.
• A VSD is defined by parts of the septum involved (mem-
branous or muscular). There are 4 major types of VSDs:
perimembranous, muscular, outlet, and inlet VSDs.
• Perimembranous VSDs are best imaged with the par-
asternal long and short axis via medial angulation of the
probe.
• Muscular VSDs are best imaged with the apical four
chamber with multiple planes.
• Outlet/supracristal VSDs are best imaged with anterior
scanning while in the apical four-chamber view.
• Atrioventricular or inlet VSDs are best imaged with the
apical four-chamber view.
• Closure of VSD is recommended if there is evidence of:
left ventricular enlargement, Qp:Qs ratio is greater than
1.5, pulmonary artery pressure is less than half of the
systemic pressure, pulmonary resistance is less than
one-third of systemic resistance, aortic regurgitation, or
current or past infective endocarditis.
1.1.1 | Imaging of VSDs
Two-dimensional echocardiography determines the location and
size of the defect. Parasternal long and short axis, apical and subcos-
tal long and short-axis views complement each other in determining
the anatomy and size of the ventricular septal defect.
Classification of VSDs on echocardiography varies based on the
size and location and coexisting anatomic abnormalities.8 A sum-
mary of the classification of various VSDs and best views to image
them is summarized in Table 1.
1.1.2 | Major Goals of ECHO assessment of VSDs
1. Anatomic assessment to determine the type, location, size, and
number of VSDs, relation of VSD to adjacent structures (eg,
tricuspid valve, aortic, and pulmonary valve) and measurement
of the margins of the defects. Color flow mapping determines
the direction and degree of shunt and can help measure the
effective size of the ventricular septal defect.
2. Hemodynamic assessment to determine direction and magnitude
of the shunt and degree of restriction to flow. Doppler study adds
information regarding direction of shunt, magnitude of shunt, and
pressure gradient. Pulse wave Doppler assists in evaluation of
direction and location of shunt, while continuous-wave Doppler
helps assess the pressure gradient across the defect based on
Doppler-derived parameters using the Bernoulli equation. Doppler
flow analysis of the pulmonary and aortic outflow evaluates the
NAYAK et al. | 2187

perimembranous and outlet and/or supracristal

Irregularity leads to false-negative findings with

corresponding jets can drown out the VSD jet,

Short-axis view combined with the apical four-

atrioventricular valves needs to be imaged by

chamber view helps to differentiate between

tilting the probe inferiorly while in the apical

Proximity to aortic and pulmonary valves and

inlet portion of the septum between the
To differentiate from other VSDs, the

causing false-negative reads

four-chamber view
echocardiography
Special comments

VSDs
FIGURE 2 Maligned VSD seen in the parasternal long axis

3-8, 20, 21
Figures
degree of shunt (Qp/Qs ratio). The Qp/Qs ratio can be estimated

18,19
16,17
9-15
from analysis of outflow profile in the aorta and pulmonary artery.
Estimation of pulmonary artery systolic pressure (PASP)/right

Anterior scanning while in the apical four-chamber

angulation of the probe and subcostal views with
ventricular systolic pressure (RVSP) can be derived from gradient
across ventricular septal defect and/or from velocity of tricuspid
regurgitant jet if present. The peak jet velocity across the defect

Parasternal long and short axis via medial

Apical four chamber with multiple planes

should also be measured by orienting the Doppler beam parallel
to the flow of the jet. This helps determine the pressure gradient

long, short, and oblige sweeps

between the ventricles and the shunt fraction which is useful to
determine the need for intervention. Unrestricted VSDs usually
are large VSDs equal or larger than the size of the aortic orifice

Apical four chamber

usually equalize the RV and LV pressures. Restrictive VSDs are
Bast ECHO views

smaller than the aortic orifice and produce high-velocity jet across
VSD and can give an estimate of the RV pressure.
3. Determine if there are associated lesions such as coarctation of

view
aorta (CoA), aortic stenosis and pulmonary stenosis, atrial septal
Overview of types of VSDs and summary of major characteristics.

defect (ASD), and patent ductus arteriosus (PDA).

• Located away from the inflow and outflow tracts
• Located near the subaortic outflow tract and the

• Can be associated with tricuspid and aortic valve

Located anterior to the aortic annulus and adjacent

• Occurs in multiples, hence called “Swiss cheese”

• Chordae of above valves can traverse through

• Commonly have overlaying tricuspid and/or
septal leaflet of the tricuspid or aortic valve

1.2 | Perimembranous VSDs

• Can cause mal-alignment of septum

1.2.1 | Common characteristics

• Typically located near the subaortic outflow tract and the septal
Common characteristics

to the pulmonary valve

leaflet of the tricuspid or aortic valve as seen in Figures 3-7

• Can extend into the muscular component of the septum leading
abnormalities

to mal-alignment of the septum as seen in Figure 2 8,9

mitral valves

• Can be associated with tricuspid and aortic valve abnormalities as

defects

seen in Figure 8 10
VSD

Outlet/Supracristal

1.2.2 | Best imaging technique

(Inlet/Posterior)
Perimembranous

Atrioventricular
Trabecular or
Type of VSD

Muscular
TA B L E 1

• In adults, parasternal long and short axis via medial angulation of

the probe as seen in Figures 3 and 4 with shunt measurement with
continuous-wave Doppler as seen in Figure 6 11
2188 | NAYAK et al.
F I G U R E 3 Perimembranous ventricle septal defect seen from
parasternal long-axis view. LA = left atrium; LV = left ventricle;
RA = right atrium; RV = right ventricle; VSD = ventricular septal defect
F I G U R E 4 Perimembranous VSD seen from parasternal long-
axis view with color Doppler showing turbulence of flow with left
to right shunt
F I G U R E 5 Perimembranous VSD seen from the apical view.
AV = aortic valve
• In children, subcostal views with long, short, and oblige sweeps
• Aneurysm of the membranous septum can be seen with subcostal
and apical four-chamber views
• Prolapse of the right coronary cusp, if present, can be seen in
parasternal and apical views
F I G U R E 6 Continuous-wave Doppler across the ventricular
septal defect with peak velocity of 2.85m/s indicating a pressure
gradient across the defect of 29 mm Hg
F I G U R E 7 Perimembranous VSD as seen from a parasternal
short-axis view with and without color Doppler
F I G U R E 8 Aneurysm of membranous septum seen for the
parasternal long-axis view
1.2.3 | Special comments
• Short-axis view combined with the apical four-chamber view helps to
differentiate between perimembranous and outlet and/or supracris-
tal VSDs as seen in Figures 5 and 7 and compared with Figure 18.
NAYAK et al. | 2189

F I G U R E 1 2 Mid-muscular VSD seen in a subcostal view pre

FIGURE 9 Mid-muscular VSD as seen from the apical view
device closure

F I G U R E 1 3 Device closure of a mid-muscular VSD in a

subcostal short axis
FIGURE 10 Mid-muscular VSD as seen from the apical view
with Doppler

F I G U R E 1 4 Embolized device in left ventricular outflow tract in

F I G U R E 1 1 Mid-muscular VSD as seen from the parasternal apical five chamber view. LVOT = left ventricular outflow device
short axis with and without Doppler
• Occurs in multiples, hence called “Swiss cheese” defects
1.3 | Trabecular or muscular VSDs

1.3.1 | Common characteristics 1.3.2 | Best imaging technique

• Located toward the middle of the septum (away from the inflow • Apical four chamber as seen in Figure 9 and Figure 10 11
and outflow tracts) • Entire VSD lies in multiple planes as in Figure 10, 11-15 12
2190 | NAYAK et al.
FIGURE 15 Embolized device in the LVOT in parasternal long-
axis view
F I G U R E 1 6 Posterior or Inlet type VSD as seen from a apical
four-chamber view. TV = Tricuspid Valve
1.3.3 | Special Comments
• May be more common than perimembranous VSDs; however,
since they frequently close without any intervention and rarely
cause symptoms, they go undocumented
• Irregularity leads to false-negative findings with echocardiography
1.4 | Atrioventricular (Inlet/Posterior)
Septal Defects
1.4.1 | Common characteristics
• Can cause apical displacement of tricuspid valve, hence, atrioven-
tricular valves should not be in the same plane as in Figure 17
• Commonly have overlaying tricuspid and/or mitral valves
• Chordae of above valves can traverse through VSD
1.4.2 | Best imaging technique
• Apical four chamber with posterior tilt as in Figure 16.
F I G U R E 1 7 Posterior VSD as seen from apical four-chamber
view in the absence of a atrioventricular canal defect
F I G U R E 1 8 Supracristal VSD as seen from parasternal short
axis with and without Doppler
1.4.3 | Special comments
• To differentiate between trabecular and inlet VSDs, the inlet
portion of the septum between the atrioventricular valves needs
to be imaged by tilting the probe inferiorly while in the apical
four-chamber view while the VSD is parallel to beam as in Figures
16 and 17 compared to Figures 9 and 10
• Occurs with many other malformations and therefore can be
missed on echocardiography.
1.5 | Outlet/Supracristal VSDs
1.5.1 | Common characteristics
• Located anterior to the aortic annulus and adjacent to the pulmo-
nary valve as in Figures 18 and 19
• More common in Asian population
1.5.2 | Best imaging technique
• Anterior scanning while in the apical four-chamber view
NAYAK et al. | 2191

F I G U R E 1 9 Supracristal VSD as seen from parasternal short

axis showing a peak flow of 5.23 m/s
F I G U R E 2 1 Perimembranous VSD seen from the parasternal
long-axis causing aortic insufficiency. Prolapsed aortic cusp can be
• Parasternal long and short axes with lateral angulation can be seen within in the VSD. AI = Aortic Insufficiency; Ao = Aorta
used to localize these lesions in line with the aortic and pulmonary
valves

1.5.3 | Special comments

• Further differentiation is based on relationship to crista

supraventricularis
• Proximity to aortic and pulmonary valves and corresponding jets
can drown out the VSD jet, causing false-negative reads12

1.6 | Common presentations of VSDs

In pediatric populations, most VSDs described above, especially

small restrictive VSDs, present as a holosystolic murmur with no
signs of congestive heart failure. The majority of these lesions close
spontaneously with age as shown in Figure 20. The lesions that do
not resolve tend to display a large shunt (usually Qp:Qs ratio > 2:1)
and cause congestive heart failure (CHF), pulmonary hypertension,
FIGURE 22 Unrepaired VSD resulting in Eisenmenger
syndrome
and valvular dysfunction which often leads to failure to thrive as
shown in Figures 21 and 22. These symptoms are primarily treated
with diuretics, angiotensin converting inhibitors (ACE), and digoxin.
When patients are unresponsive to medical therapy, surgical vs.
transcatheter repair is offered.

1.7 | Management: surgical and transcatheter-based

interventions

According to the 2018, adult congenital heart disease guidelines

F I G U R E 2 0 Small restrictive perimembranous VSD with peak
flow of 3.92 m/s and pressure gradient of 61 mm Hg
published by the American Heart Association, the first priority when
a VSD is identified is to determine the direction of the shunt through
the VSD via Doppler. In the event of a right to left shunt, cardiac
catheterization is recommended to evaluate the degree of pulmo-
nary arterial (PA) hypertension. If the pulmonary arterial resistance
is greater than two-thirds of systemic resistance, closure of the VSD
2192 | NAYAK et al.

has been shown to cause harm. These patients are typically man-
aged medically with Bosentan (Class I indication) and PDE-5 inhibi-
tors (Class IIa indication).
In the event of a left to right shunt, catheterization along with
VSD closure is recommended if:

• There is evidence of left ventricular enlargement

• Qp:Qs ratio is greater than 1.5
• If pulmonary artery pressure is less than half of the systemic
pressure
• If pulmonary resistance is less than one-third of systemic
resistance
• Evidence of aortic regurgitation as seen in Figure 21
• Evidence of current of past infective endocarditis.13
FIGURE 23 Unrepaired VSD with right to left shunt displayed
Certain types of VSDs such as outflow/supracristal VSDs are
more commonly intervened upon because they tend to be associ-
ated with aortic or pulmonary cusp prolapse which can lead to re-
gurgitation and/or stenosis of the valve.13
While indications for closure are clearly discussed in the 2018
guidelines, they fail to discuss the indications for surgical versus tran-
scatheter closure methods. In 2019, a retrospective cohort study
based in Europe showed that surgical closure of VSD is still more pop-
ular than transcatheter devices with devices accounting for only 9.7%
of all VSD closures. This preference is most likely due to the higher re-
ported 30-day mortality with catheter-based device insertion (4.1%)
as compared to (0.6%) with surgical closure. However, significant dif-
ferences in patients undergoing these procedures and the paucity of
patients undergoing catheter-based VSD closures make this an unfair
comparison.14 Despite this, in 2011, the AHA recommended device
closures for muscular VSDs with an adequate septal myocardial rim or F I G U R E 2 4 Unrepaired VSD with TR velocity of 5.59 m/s
in cases of attempted surgical closure with residual peri-repair leak.15 implying pulmonary hypertension
Device-based closure in children can be done in selective cases,
mainly in mid-muscular VSDs as shown in Figures 12 and 13. These The present adult congenital heart disease guidelines leaves a lot
lesions should have good delineation of location and adequate rims of room for expert consultation to determine if closure is indicated
to hold the device, otherwise embolization of device could occur. especially in cases where pulmonary artery pressure is between 50%
This can be done via transcatheter approach or in hybrid type inter- and 66% of the systemic pressure and when pulmonary resistance is
vention via a ventriculotomy. Amplatzer muscular VSD device is the between one to two-thirds of systemic resistance. For those VSDs
only FDA approved device for closure. Amplatzer perimembranous that do not meet criteria for intervention, continued monitoring
VSD device is available but not approved because it has been asso- with an adult congenital specialist with echocardiography, electro-
ciated with high incidence of heart block. Some selective cases of cardiogram, and/or stress testing is recommended every 3 months
perimembranous VSD with aneurysm of membranous septum can to 5 years based on their physiological state.13 In these scenarios,
be closed with other devices (Amplatzer vascular plug, Amplatzer echocardiogram is primarily used to monitor for signs of volume
duct occlude, or B. Braun Nit-Occluder coil); none of which are FDA overload of the left ventricle leading to higher degrees of shunting
approved for that purpose. Common complications of these proce- from left to right. This can eventually lead to pulmonary arterial hy-
dures include device embolization as shown in Figures 14 and 15 and pertension and eventually Eisenmenger's syndrome caused by re-
various degrees of heart block. versal of the shunt flow. This increased flow also causes endothelial
Some patients may require pulmonary artery banding in order to injury increasing the theoretical risk of thrombosis especially in adult
protect the pulmonary vascular bed and to mitigate symptoms until patients with VSDs who use tobacco, oral contraceptives, or have
the patient can undergo surgical and/or device closure. Careful tim- high cholesterol. Typically, larger VSD with softer murmurs have the
ing of surgeries in those patients is very important. Delay in surgical greatest risk of these complications. Monitoring for these warning
interventions can lead to progressive pulmonary hypertension and signs is particularly important prior to the age of two as early surgical
Eisenmenger's complex as seen in Figures 22-24. repair has been shown to improve long-term mortality.16 Therefore,
NAYAK et al.
understanding and characterization of VSDs via echocardiography
is crucial to the management of patients with adult congenital heart
disease.
ORCID
Padmini Varadarajan https://orcid.org/0000-0002-1031-6581
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How to cite this article: Nayak S, Patel A, Haddad L,
Kanakriyeh M, Varadarajan P. Echocardiographic evaluation
of ventricular septal defects. Echocardiography. 2020;37:
2185–2193. https://doi.org/10.1111/echo.14511