Download Ventricular Septal Defects

Ventricular Septal Defect in adults
Dr. Mohamed Sofi MD; FRCP
(London); FRCPEdin; FRCSEdin
Ventricular Septal Defect (VSD)
• A ventricular septal defect (VSD) • Morphology: 4 types
– Infundibular VSD (type 1,
is a defect in the septum resulting
also referred to as supracristal,
in communication between the
subarterial, more commomn in
Asia
ventricular cavities.
– Membranous – (Type 2)
• VSDs were first clinically
most common type in adults
described by Roger in 1879 ; the
(80%)
term maladie de Roger is still used
– Inlet defects (type 3, also
known as atrioventricular
for a small asymptomatic VSD.
canal type)
• In 1898, Eisenmenger described a
– Muscular – (type 4) most
patient with VSD, cyanosis, and
common type in young
children
pulmonary hypertension. This
– Complete AV septal
combination has been termed the
(endocardial cushion) defects
Eisenmenger complex.
VENTRICULAR SEPTAL DEFECT IN ADULTS
• Ventricular septal defect (VSD)
is the most common congenital
heart defect at birth, but accounts
for only 10 percent of congenital
heart defects in adults because
many close spontaneously
• About 5 percent of patients with
VSDs have chromosomal
abnormalities including trisomy
13, 18, and 21 syndromes
• VSDs are of various sizes and
locations, can be single or
multiple an
• May be complicated in adults by
subpulmonary stenosis, pulmonary
hypertension, and/or aortic
regurgitation
• VSDs are associated with other
congenital heart defects including
atrial septal defect (35 %), patent
ductus arteriosus (22 %), right
aortic arch (13 %), pulmonic
stenosis, and more complex defects
such as transposition of the great
arteries and tetralogy of Fallot
• Majority of congenital VSDs in
adults present as an isolated defect
Epidemiology
• VSDs affect 2-7% of live births.
• An echocardiographic study
revealed a high incidence of 5-50
VSDs per 1000 newborns.
• The defects in this study were
small restrictive muscular VSDs,
which typically spontaneously
close in the first year of life
• VSDs are the most common
lesion in many chromosomal
syndromes, including trisomy 13,
trisomy 18, trisomy 21, and
relatively rare syndromes
Sex-related demographics
• VSDs are slightly more common
in female patients than in male
patients (56% vs 44%).
Race-related demographics
• Reports are inconclusive
regarding racial differences in
the distribution of VSDs.
However, the doubly
committed or outlet defect
occurs is most common in the
Asian population. These
constitute 5% of the defects in
the Unites States but 30% of
those reported in Japan.
Pathophysiology
• Defect size is often compared to aortic annulus
– Large: > 50% of annulus size
– Medium: 25-50% of annulus size
– Small: <25% of annulus size
• Restrictive VSD is typically small, such that a significant pressure
gradient exists between the LV and RV (high velocity), with
small shunt
• Moderately restrictive VSD  moderate shunt
• Large / non-restrictive VSD  large shunt
• Eisenmenger VSD  irreversible pulmonary HTN and shunt
may be zero or reversed
Types of ventricular septal defects
Anatomic diagram illustrates the positions of different
ventricular septal defects: infundibular (1), membranous (2),
inlet or canal (3), muscular or trabecular (4).
Membranous VSD
Parasternal long axis view with Color Flow Doppler demonstrating
membranous VSD (arrow) underneath the aortic valve with Color Flow
Doppler demonstrating a left-to-right shunt from the left ventricular outflow
tract into the right ventricle (double arrow).
Ventricular septal defect (Mid-muscular part)
Inlet ventricular septal defect
This apical four chamber image shows the inlet VSD (arrow) at
the juncture of the atrioventricular valves. Inlet ventricular
septal defect
Membranous VSD with aneurysm color still frame
Paired long axis images with and without color flow mapping demonstrating
tricuspid valve tissue apposed to the ventricular septal defect (VSD, arrows)
which is partially occluding the defect. In the right hand panel, color flow
mapping demonstrates residual flow around this tricuspid valve tissue.
Supracristal VSD short axis 2D and color still frame
Paired short axis images showing a moderately large supracristal VSD (arrow)
located just proximal to the pulmonary valve and more distant from the tricuspid
valve apparatus than is seen for membranous defects. The right hand panel shows
the color flow jet exiting the left ventricular outflow tract and entering the right
ventricle.
Membranous VSD long axis color still frame
Long axis still frame from a two-dimensional transthoracic echocardiogram
with and without color flow mapping. In the left hand panel, color flow
mapping demonstrates the jet of left-to-right flow crossing the septum just
apical to the aortic annulus. The ventricular septal defect (VSD) is shown
without color flow mapping in the right hand panel (arrow).
Membranous VSD with LV to RA shunt still frame
Subcostal coronal still frame with color flow mapping showing the LV-RA
shunt. This communication is between the LVOT and the RA. The defect
(arrow) directs blood into the RA directly from the LVOT, entering just
above the septal leaflet of the tricuspid valve.
Muscular VSD multiple color still frame
Paired apical images with and without color flow mapping show a large posterior
muscular VSD and two smaller apical muscular VSDs (arrows). Though the larger
posterior defect near the crux is easily seen without color flow mapping, the apical
defects are more easily missed without color flow Doppler interrogation of the septum.
Peri-membranous VSD
Colour sector in parasternal long axis view shows the mosaic (multi-coloured) VSD jet
across the perimembranous VSD from the left ventricle to the right ventricle. It is a high
velocity jet because the VSD is restrictive. The neck of the jet almost corresponds to the
size of the VSD. VSD jet is seen in a systolic frame.
Natural History
The natural history of isolated
ventricular VSDs depends on the
type, size of defect, and associated
hemodynamic abnormalities
• Spontaneous closure —
Spontaneous closure occurs in 40 to
60 % of individuals with VSDs,
during early childhood
• Spontaneous closure occurring
between the ages of 17 and 45 years
was observed in 10 percent of 188
adults with VSD followed for a
mean of 13 years
• Endocarditis — Endocarditis risk
persists in those with unrepaired
VSD with an incidence of 22 to 24
per 10,000 patient years. The risk of
endocarditis is higher in those with
unrepaired VSD compared to those
who have undergone repair
• Arrhythmias — Arrhythmias
including atrial and ventricular PMB
and tachycardias have been observed
in adult patients with VSD. The
incidence of VT and sudden death in
natural history studies of VSDs are 5.7
and 4.0 percent, respectively
• Heart failure — Heart failure due to
chronic volume overload of the left
ventricle occurs in medium or large
VSDs
• Left-sided heart failure can develop in
the setting of significant aortic
regurgitation in association with a
residual infundibular or membranous
VSD.
CLINICAL MANIFESTATIONS
• Patients with an isolated small
• The following scenarios may
restrictive defect with small left to
occur with large VSDs:
right shunt (often referred to as
• Have early large left to right
“maladie de Roger”) generally
shunting with development of
remain asymptomatic in adulthood,
heart failure during infancy.
but aortic regurgitation may
• In rare cases, Eisenmenger
develop and there is a low risk of
syndrome occurs sometime during
endocarditis.
late childhood to early adulthood.
• Patients with moderate sized VSDs
The right to left shunt causes
may remain asymptomatic or
cyanosis.
develop symptoms of mild heart
failure in childhood.
• Heart failure usually resolves with
medical therapy and with time as
the child grows and the VSD gets
smaller in absolute and/or relative
terms.
CLINICAL MANIFESTATIONS
Dyspnea and fatigue in patients
with VSDs result from:
• Progressive left ventricular
overload due to the VSD
• Significant aortic regurgitation,
• Pulmonary hypertension (PHTN)
• Double chambered right
ventricle (DCRV).
• Syncope is a rare symptom in
patients with VSD
• Patients with VSDs may also
present with arrhythmias or
sudden death
• Patients may also present with a
change in the murmur due to:
• Development of DCRV, PHTN,
or aortic regurgitation.
• Membranous VSD may close
spontaneously via adherence of
the septal leaflet of the tricuspid
valve, which forms an aneurysm
of the membranous septum
• Septal aneurysm may cause a
new midsystolic click and may
lead to syncope due to RV
outflow obstruction.
Exams and Tests
Listening with a stethoscope usually reveals a heart murmur. The
loudness of the murmur is related to the size of the defect and
amount of blood crossing the defect.
Tests may include:
• Chest x-ray -- looks to see if there is a large heart with fluid in the
lungs
• ECG -- shows signs of an enlarged left ventricle
• Echocardiogram -- used to make a definite diagnosis
• MRI of the heart -- used to find out how much blood is getting to
the lungs
• Cardiac catheterization (rarely needed, unless there are
concerns of high blood pressure in the lungs)
Treatment
• Small VSD: no treatment may be needed. But closely
monitored to make sure that the hole eventually closes
properly and signs of heart failure do not occur.
• Large VSD: who have symptoms related to heart failure may
need medicine to control the symptoms and surgery to close
the hole. Medications may include digoxin and diuretics.
• If symptoms continue, even with medication, surgery to close
the defect with a patch is needed.
• Some VSDs can be closed with a special device during a
cardiac catheterization, which avoids the need for surgery, but
only certain types of defects can successfully be treated this
way.
• Having surgery for a VSD with no symptoms is controversial.
INDICATIONS FOR INTERVENTION
VSD closure indications include:
• Closure of a VSD is
• There is a clinical evidence of
reasonable when there is net
left ventricular volume
left to right shunting in the
overload.
presence of left ventricular
• History of infective
systolic or diastolic
endocarditis.
dysfunction or failure.
• Left to right shunting with
• Closure of a VSD is not
pulmonary artery pressure
recommended in patients
less than two thirds of
with severe irreversible
systemic pressure and
pulmonary vascular resistance
pulmonary artery
is less than two-thirds of
hypertension
systemic vascular resistance.