Ventricular Septal Defect

Definition

The ductus arteriosus is the vessel that connects the left pulmonary artery to the descending aorta
during fetal life. Patent ductus arteriosus (PDA) results when the ductus fails to close after birth,
resulting in a persistent connection between the great vessels

Epidemiology

The incidence of isolated VSD is about 0.3% of newborns. Because as many as 90% may eventually
close spontaneously; the incidence is significantly lower in adults. VSDs have no gender predilection.
The percentage of each type is presented in the pathophysiology section. The incidence of 1.5 to 3.5
per 1,000 live births. They are most often located in the membranous (70%) and muscular (20%)
portions of the septum. Rare VSDs occur just below the aortic valve or adjacent to the AV valves.

Etiology and Risk Factor

VSD develops when there is a developmental abnormality or an interruption of the interventricular

septum formation during the complex embryologic heart morphogenesis. A TBX5 mutation was
recently discovered to cause septal defects in patients with Holt-Oram Syndrome. Non-inherited risk
factors have been implicated in the development of VSDs; these include maternal infection (rubella,
influenza, and febrile illness), maternal diabetes mellitus and phenylketonuria. Exposure to toxins
like alcohol, marijuana, cocaine and certain medications such as metronidazole and ibuprofen is also
linked to VSD

VSDs often occur at the same time as other birth defects. Many of the same factors that increase the
risk for other birth defects also increase the risk of a VSD. Specific risk factors for a VSD include being
of Asian heritage, having a family history of congenital heart disease, and having other genetic
disorders, such as Down syndrome.
Pathophysiology

The interventricular septum is an asymmetric curved structure due to the pressure difference in
ventricular chambers. It is composed of five parts: the membranous, muscular (frequently referred
to as trabecular), infundibular, atrioventricular and the inlet.

Failure of development or fusion of one of the above components during morphogenesis of the
embryonic heart results in a VSD in the corresponding component. Different anatomic locations and
histologic variation of VSDs has led to several classifications and nomenclature systems. Complexities
in describing VSDs and multiple synonyms have been improved after a new unified classification was
established and categorized VSDs into four major groups:

 Type 1: (infundibular, outlet) This VSD is located below the semilunar valves (aortic and
pulmonary) in the outlet septum of the right ventricle above the crista supraventricularis,
that is why sometimes also referred to as supracristal. It is the most uncommon type
representing only 6% of all VSDs with the exception being in the Asian population where it
accounts for approximately 30%. Aortic valve prolapse and regurgitation are common
because of loss of support of the right and/or the noncoronary cusps of the aortic valve. It is
unusual for these defects to close spontaneously.

 Type 2: (membranous) This VSD is, by far the most common type, accounting for 80% of all
defects. It is located in the membranous septum inferior to the crista supraventricularis. It
often involves the muscular septum when it is commonly known as perimembranous. The
septal leaflet of the tricuspid valve sometimes forms a “pouch” that reduces the shunt and
can result in spontaneous closure.

 Type 3: (inlet or atrioventricular canal) This VSD is located just inferior to the inlet valves
(tricuspid and mitral) within the inlet part of the right ventricular septum. It only represents
8% of all defects. It is seen in patients with Down syndrome.

 Type 4: (muscular, trabecular) This VSD is located in the muscular septum, bordered by
muscle usually in the apical, central and outlet parts of the interventricular septum. They can
be multiple, assuming a “Swiss cheese” appearance. They represent up to 20% of VSDs in
infants. However, the incidence is lower in adults due to the tendency of spontaneous
closure.

The main pathophysiologic mechanism of VSD is shunt creation between the right and left ventricles.
The amount of blood shunted and the direction of the shunted blood determine the hemodynamic
significance of the VSD. These factors are governed by the size, location of the VSD and pulmonary
vascular resistance.

While VSDs are classified according to location, they can also be classified into size. The size is
described in comparison to the diameter of the aortic annulus. They are considered small if they
measure less or equal to 25% of the aortic annulus diameter, medium if they measure more than
25% but less than 75%, and large if they are greater than 75% of the aortic annulus diameter.

Small VSD the defect itself offers more resistance to flow than the pulmonary or systemic
vasculature, thereby preventing a significant quantity of left-to-right shunting. Large VSD with larger
“non-restrictive” defects, the volume of the shunt is determined by the relative pulmonary and
systemic vascular resistances.
Signs and Symptoms

Patients with small VSDs typically remain symptom free. Conversely, 10% of infants with VSDs have
large defects and will develop early symptoms of congestive heart failure, including tachypnea, poor
feeding, failure to thrive, and frequent lower respiratory tract infections. Patients with VSDs
complicated by pulmonary vascular disease and reversed shunts may present with dyspnea and
cyanosis. Bacterial endocarditis can develop, regardless of the size of the VSD. Loud, widely split
pulmonic component of S2 is occur in VSD.

History and Physical Examination

The presentation of unrepaired VSDs is largely dependent on the presence of hemodynamically

significant shunt; hence it is directly related to the size of the defect. Small VSDs only lead to the
minimal left-to-right shunt without left ventricular (LV) fluid overload or PAH; they are usually
asymptomatic or found incidentally on physical exam. Medium size VSDs result in a moderate LV
volume overload and absent to mild PAH; they present late in childhood with mild congestive heart
failure (CHF). Those with large defects develop CHF early in childhood due to the severe LV overload
and severe PAH. The murmur of VSD is typically pan-systolic best heard in the left lower sternal
border; it is harsh and loud in small defects but softer and less intense in large ones. Infundibular
defects are best heard in the pulmonic area. A diastolic decrescendo murmur and wide pulse
pressure can be detected in the setting of aortic regurgitation. Increased LV flow may result in the
mid-diastolic rumble in the lower left sternal border. A systolic click of a septal aneurysm can be
appreciated sometimes in membranous defects. Eisenmenger syndrome manifests in cyanosis,
desaturation, dyspnea, syncope, secondary erythrocytosis, and clubbing; in such cases, the typical
murmur of VSD can be absent and accentuated pulmonic component of the second heart sound may
be heard. 

Lab Examination

1. Chest X-Ray
 Cardiac enlargement with an increased cardiac silhouette is evident on chest
radiograph only in the presence of a large left-to-right shunt
 Left atrial enlargement may be evident on the lateral chest radiograph
 The chest radiograph can be normal with a small VSD. Larger VSDs may show
cardiomegaly (particularly left atrial enlargement although the right and left
ventricle can also be enlarged). A large VSD may also show features of pulmonary
arterial hypertension, pulmonary edema, pleural effusion and increased pulmonary
vascular markings.

2. Electrocardiogram (ECG)
 Right axis deviation.
 Tall biphasic QRS complexes in multiple leads
 Deep S waves in V5-6
 Large biphasic QRS complexes (tall R waves + deep S waves) in V2-5 (Katz-Wachtel
phenomenon)
 Right atrial abnormality (RAA)
 Left atrial abnormality (LAA)
 Right ventricular hypertrophy
 Right bundle branch block (complete/incomplete)
 Left ventricular hypertrophy
 Suggestive of LVH or biventricular hypertrophy
3. Echocardiogram
 most common type in adults is the membranous type
 most common ventricular septal defect in children is the muscular type
 A large muscular ventricular septal defect can cause a large left-to-right shunt, with
eventual pulmonary hypertension
 third most frequent type of ventricular septal defect is the one seen with complete
atrioventricular septal defects
 supracrustal, or sub arterial, ventricular septal defect is rare
 Overriding aorta
 Chamber hypertrophy
Complication

 Eisenmenger syndrome
 Aortic insufficiency due to prolapse of the aortic valve leaflet
 Endocarditis
 Embolization
Prognosis

The prognosis is good for patients who have undergone VSD repair. However, they have a higher risk
of arrhythmia, endocarditis and Congestive heart failure in the long run in comparison to the general
population.

Treatment

Most cases do not need treatment and heal during the first years of life. Treatment is either
conservative or surgical. Smaller congenital VSDs often close on their own, as the heart grows, and in
such cases may be treated conservatively. Some cases may necessitate surgical intervention, i.e.
with the following indications:

1. Failure of congestive cardiac failure to respond to medications

2. VSD with pulmonic stenosis

3. Large VSD with pulmonary hypertension

4. VSD with aortic regurgitation

Surgical Procedure. For the surgical procedure, a heart-lung machine is required and a median
sternotomy is performed. Percutaneous endovascular procedures are less invasive and can be done
on a beating heart, but are only suitable for certain patients. Repair of most VSDs is complicated by
the fact that the conducting system of the heart is in the immediate vicinity.

Medication in Infants. Ventricular septum defect in infants is initially treated medically with

● cardiac glycosides (e.g., digoxin 10-20 μg/kg per day),

● loop diuretics (e.g., furosemide 1–3 mg/kg per day) and

● ACE inhibitors (e.g., captopril 0.5–2 mg/kg per day).

This medication used to manage symptomatic congestive heart failure (CHF) in children with
moderate or large ventricular septal defects (VSDs)

Long Term Monitoring. After intracardiac repair of a VSD, long-term infrequent follow-up is
necessary.

● Patients with small VSDs do not require indefinite follow-up although subacute bacterial
endocarditis remains a theoretical risk.

● With increasing age, the incidence of aortic leaflet prolapses and aortic insufficiency increases in
children with the doubly committed and peri membranous type of VSD.
 Paper
Atrial Septal Defect (ASD)
Ventricular Septal Defect (VSD)
Tetralogy of Fallot (TOF)

Widelmark Farrel Y S
130110180176

FK UNPAD
2019/2020
References:
 Pathophysiology of Heart Disease Lily
 McCance Pathophysiology, The Biologic Basis for Disease in Adult and
Children
 Harrisons Cardiovascular Medicine
 NCBI
 Calcary Guide
 Braunwald Heart Disease A Textbook of Cardiovascular Medicine
 Kapita Selekta
 MedScape
 Lippincott Pathophysiology
 Robbins & Cotran Pathologic Basis of Disease