Learn about ventricular septal defect, a heart condition characterized by a hole in the wall separating the heart's lower chambers. Find information on causes, symptoms, and treatment options at Meri Sehat.

Ventricular Septal Defect

Humza Khizer

Overview

Ventricular septal defect is a congenital heart defect characterized by a hole in the wall separating the two ventricles of the heart.&nbsp; 
&nbsp;

Accounting for 40% of all heart malformations, ventricular septal defect (VSD) is the most common congenital heart defect<a href="#accordion">[7]</a>. It affects an estimated 0.5% of all newborns<a href="#accordion">[3]</a>. In the United States, about 1 in every 240 babies each year is born with a VSD<a href="#accordion">[6]</a>.

Since approximately 90% of VSDs close spontaneously during childhood, the condition is much less common in adults<a href="#accordion">[2]</a>.

The characteristic hole is present in the wall dividing the ventricles. This abnormal communication disrupts the flow of blood through the heart and lungs. Oxygenated blood from the left ventricle flows to the right ventricle and to the lungs instead of out of the body. Thus, the heart and lungs are forced to work harder.

Many VSDs close on their own, but if they don&#39;t, significant defects can cause harmful side effects such as <a href="https://merisehat.pk/disease/pulmonary-hypertension">pulmonary arterial hypertension</a>, ventricular dysfunction, and a higher risk of arrhythmias<a href="#accordion">[2]</a>. 
&nbsp;

On the basis of extensive clinical research, there are four main types of VSD. They are based on their anatomical location and the structure of the hole. Following are the kinds of VSD<a href="#accordion">[4]</a>: 
&nbsp;

<ul>
	<li>Membranous VSD: It accounts for around 80% of VSD cases and is the most prevalent form. The defect occurs in the upper portion of the wall between the ventricles, the membranous component of the septum. It is known as perimembranous when it involves the muscular septum.</li>
	<li>Muscular VSD: These comprise 20% of VSDs in babies, and the defect frequently consists of several holes. The multiple defects may give a &lsquo;Swiss cheese&rsquo; appearance.</li>
	<li>Inlet VSD: This hole appears just below the mitral valve in the left ventricle and the tricuspid valve in the right ventricle. Therefore, blood must pass through the defect connecting the two chambers before it can enter the ventricles. This type of VSD is seen in people with Down syndrome<a href="#accordion">[2]</a>. Inlet VSD may also be a part of an atrioventricular septal defect (AVSD).</li>
	<li>Outlet (Conoventricular): In outlet VSD, the defect is present just before the pulmonary valve in the right ventricle and the aortic valve in the left ventricle. Therefore, blood must pass the VSD as it travels through both valves. Although an uncommon type, it has a high incidence in the Asian population, accounting for approximately 30% of all VSDs<a href="#accordion">[2]</a>. This kind of VSD rarely closes spontaneously and is commonly associated with aortic valve regurgitation and prolapse. 
	&nbsp;</li>
</ul>

Apart from the VSDs being categorized on the basis of their location, they can also be grouped according to their size<a href="#accordion">[4]</a>.

<ul>
	<li>Small (3 mm in diameter or less): The majority of VSDs fall into this category and are symptom-free. By the time a child is 6 years old, about 9 out of 10 of these will close. Thus, they rarely require surgery.</li>
	<li>Moderate (3-5 mm in diameter): These VSDs are typically asymptomatic. Therefore, doctors typically delay surgery. Moreover, some may also close spontaneously.</li>
	<li>Large (6-10 mm in diameter): These VSDs frequently call for surgery, however, the timing of the procedure may vary. Heart and lung damage can be avoided if a big VSD is repaired before the age of two. However, if the damage is not fixed before the age of two, it is irreversible and gets worse with time. 
	&nbsp;</li>
</ul>

Signs and Symptoms

Congenital heart defects typically cause symptoms during the first few days or weeks of life. In VSD, symptoms depend on the size of the defect. Small defects are mostly asymptomatic. 
&nbsp;

In infants, moderate to large VSD causes signs and symptoms that look like heart failure. These include[4]:

<ul>
	<li>Shortness of breath, including fast breathing or struggling to breathe.</li>
	<li>Sweating or fatigue during feeding.</li>
	<li>Failure to thrive.</li>
	<li>Frequent respiratory infections.</li>
	<li>Heart murmur.</li>
	<li>Poor eating.</li>
	<li>Easy tiring. 
	&nbsp;</li>
</ul>

VSD in older children and adults can cause the following:

<ul>
	<li>Feeling tired or out of breath, especially when exercising.</li>
	<li>Slightly higher risk of heart inflammation caused by infections.</li>
	<li>Heart murmur (Whooshing sound heard with a stethoscope)</li>
</ul>

&nbsp;

If a moderate or large VSD is left untreated, it can lead to Eisenmenger syndrome. Long-term damage of the pulmonary blood vessels causes oxygen-poor blood from the right ventricle to flow into the left ventricle. Thus, some of the blood pumped to the body is low in oxygen, causing an overall oxygen shortage in the body. In older children and adults, Eisenmenger syndrome can result in pale skin and a blue tinge to the skin and lips due to cyanosis. It is a severe condition and can have a significant impact on a person&#39;s life. 
&nbsp;

Causes

The interventricular septum is composed of five parts: membranous, infundibular, muscular, atrioventricular, and inlet. Failure of one of these components to develop or fuse during pregnancy results in a VSD. It is unclear what causes the development of a ventricular septal defect.

It can occasionally be associated with other genetic abnormalities, heart problems, or deformities. Alcohol consumption or the use of specific anti-seizure drugs (sodium valproate and phenytoin) during pregnancy may also raise the risk that the child will have a VSD. However, further research is required to confirm these causes.&nbsp;

A rare side effect of a heart attack is the only known cause of VSD so far<a href="http://#accordion">[4]</a>. 
&nbsp;

There are no specific screening tests for ventricular septal defects. The doctor may perform a fetal echocardiogram during the second trimester of pregnancy to evaluate the fetus for heart defects8. However, not all heart defects can be detected before birth, especially small VSDs.&nbsp; 
&nbsp;

Diagnosis

A doctor can identify a VSD based on a patient&#39;s symptoms, a physical examination, and imaging testing, especially when the VSD is moderate- or large-sized. When the hole is too small to produce any visible indications or symptoms, it may go unnoticed.

Physical examination is the most commonly used method to detect a VSD. The doctor will use a stethoscope to hear the heart sounds and detect any murmurs. A moderate/large VSD typically results in a pan-systolic murmur, best heard at the left lower sternal border. Smaller defects may produce a harsh and loud murmur. In VSDs associated with aortic regurgitation, a diastolic murmur may also be heard.

Moreover, some preliminary baseline tests may be conducted to see the physiology of the body. These tests may include a complete blood picture, a liver profile, urea and creatinine levels along with arterial blood gasses<a href="#accordion">[4].</a> 
&nbsp;

Following investigative modalities are used to diagnose a VSD<a href="#accordion">[4]</a>:

<ul>
	<li>Echocardiogram (Echo): Ultra-high frequency sound waves are used to create a detailed picture of the heart and its internal structure. Moreover, it can show the movement of the blood through the heart and its valves. Depending on the location and size of the defect, a VSD is visible on an echocardiogram.&nbsp; The test is not only painless but also is over in a matter of minutes.</li>
	<li>Electrocardiogram (ECG): The test uses multiple sensors to measure the heart&rsquo;s electrical activity. It is typically normal in people with VSD. However, it can detect left ventricular hypertrophy in people with large shunts.&nbsp;</li>
	<li>Chest Or Heart X-ray: A large VSD can alter the heart&rsquo;s structure. An enlarged heart and excess fluid in the lungs can be detected with the help of a chest X-ray.&nbsp;</li>
	<li>CT And MRI: A CT or MRI scan are typically done if an echocardiogram is unable to detect the defect or provide enough information.</li>
	<li>Cardiac Catheterization: The catheter device is inserted into a significant blood vessel, usually one near the upper thigh, and is then carried up to the heart. It can aid in determining the extent and location of any congenital heart defect, such as a VSD.</li>
	<li>Pulse Oximetry:&nbsp;A sensor is placed on the child&rsquo;s fingertip and helps detect blood oxygen saturation. Low oxygen levels typically point to a heart or lung problem. 
	&nbsp;</li>
</ul>

Treatment

Most VSDs are too small to pose any problems, and will probably close on their own by the age of 6. In those situations, a medical professional is likely to advise against surgery, monitoring for symptoms, and waiting to see if the defect closes on its own. The doctor will only advise closing the hole if it is moderately sized or larger<a href="#accordion">[4]</a>.

There are essentially two major treatment modalities to repair a VSD, which include:

<ul>
	<li>Surgery: The most dependable method of closing a VSD is to surgically patch it. Depending on the size of the defect, the doctor may stitch it close or patch it using synthetic material or a graft of the patient&rsquo;s own tissue.</li>
	<li>Transcatheter Procedures: These procedures, like cardiac catheterization, enter the heart through a major artery using a transcatheter method. Once the catheter device has reached the defect, it can implant an occluder, a specialized device, to close the hole. These devices are generally composed of a mesh framework wrapped with a synthetic substance. 
	&nbsp;</li>
</ul>

When a child is underweight or isn&#39;t developing as quickly as predicted, their doctor may suggest extra steps to ensure that they get adequate nutrients. A feeding tube or a customized diet may be recommended.

Medications may be prescribed before surgery or if the defect is expected to close spontaneously. Common drugs for VSD include those used to treat heart failure and fall into the following categories: 
&nbsp;

<ul>
	<li>Diuretics: These increase the amount of fluid eliminated by the kidneys. This is beneficial when fluid accumulates around the heart, a common side effect of heart failure. These medications cause the child to urinate more frequently.</li>
	<li>Heart Failure Medications: These drugs aid in controlling the regularity and force of the heartbeats. For example, digoxin is frequently used to treat heart failure and is also beneficial for VSD. 
	&nbsp;</li>
</ul>

It&#39;s possible that a minor ventricular septal defect (VSD) never causes any issues. If left untreated, some moderate or large VSDs can result in the following complications:<a href="#accordion">[1]</a> 
&nbsp;

<ul>
	<li>Heart Failure: In cases of a medium or large defect, the heart has to work harder to pump blood to the lungs, while the lungs receive too much blood. As a result, heart failure can develop.</li>
	<li>Eisenmenger Syndrome: After many years, an untreated defect can result in Eisenmenger syndrome. Lung blood vessels stiffen and narrow as a result of irregular blood flow. Thus, the blood pressure in the lung&rsquo;s arteries rises, causing pulmonary hypertension. Moreover, the pulmonary blood vessels may become permanently damaged.&nbsp;</li>
	<li>Endocarditis: This is a very rare and life-threatening complication. It is characterized by an inflammation of the inner lining of the heart&#39;s chambers and valves, brought on by an infection.</li>
	<li>Other - People can also develop irregular heart rhythms and other heart valve diseases. 
	&nbsp;</li>
</ul>

Risk factors for ventricular septal defect include<a href="#accordion">[1]</a>:

<ul>
	<li>Family history of congenital heart defects</li>
	<li>Down syndrome and other genetic conditions</li>
	<li>Premature birth 
	&nbsp;</li>
</ul>

A newborn with a ventricular septal defect may have other heart problems, such as:

<ul>
	<li>Atrial Septal Defect - A birth defect of the heart in which there is a hole in the wall between the upper chambers (atria) of the heart.</li>
	<li>Coarctation Of The Aorta - A birth defect in which a part of the aorta is narrower than usual.</li>
	<li>Double Outlet Syndrome - The body&#39;s main artery and the lung artery do not connect to the usual areas in the heart.</li>
	<li>Patent Ductus Arteriosus - A&nbsp; persistent opening between the two main blood vessels exiting the heart.</li>
	<li>Tetralogy of Fallot i.e. a birth defect that affects normal blood flow through the heart. 
	&nbsp;</li>
</ul>

It may not be possible to prevent ventricular septal defects because the cause is unknown (VSD). However, receiving quality prenatal care is crucial. The following measures can help reduce the risk of the congenital heart defect:<a href="#accordion">[1]</a> 
&nbsp;

<ul>
	<li>Prenatal Care: People should discuss their health and any lifestyle adjustments with their doctor before pregnancy. Additionally, the doctor should be made aware of any medications. 
	&nbsp;</li>
	<li>Multivitamins: It has been demonstrated that folic acid, around 400 micrograms daily, can lessen brain and spinal cord birth abnormalities. It might also lessen the chance of developing cardiac abnormalities. 
	&nbsp;</li>
	<li>Quit Alcohol: Alcohol use during pregnancy raises the possibility of congenital cardiac abnormalities. 
	&nbsp;</li>
	<li>Don&#39;t Smoke Or Use Illicit Drugs: Smoking during pregnancy raises the chance that the baby may be born with a congenital heart condition. Moreover, people should avoid taking illicit substances because they can endanger an unborn child. 
	&nbsp;</li>
	<li>Get Recommended Vaccinations: It is important to stay up to date with all vaccinations, especially before becoming pregnant. Some infections can result in birth defects in the fetus. For instance, rubella during pregnancy can interfere with the heart development of the unborn child. 
	&nbsp;</li>
	<li>Maintain <a href="https://merisehat.pk/disease/diabetes-type-1-and-2">Diabetes</a>: Prenatal and perinatal blood sugar management with care can lower the baby&#39;s risk of congenital heart abnormalities. Gestational diabetes typically doesn&#39;t increase the danger for the unborn baby. Women who are diabetic should consult their doctor to ensure that it is under control before trying to conceive. 
	&nbsp;</li>
	<li>Consult Before Taking Any Medications: Certain medications can result in birth defects. Therefore, it is important to disclose medication use to the doctor. 
	&nbsp;</li>
</ul>

Robotic and completely endoscopic procedures are now safe and viable solutions for treating patients with a variety of heart problems because of the rise and development of minimally invasive cardiac surgery in recent years. Despite these advancements, there is a lack of outcome information for the robotic treatment of congenital cardiac abnormalities. This is especially true for robotic ventricular septal defect (VSD) repair.

As per a recent case report, a 29-year-old female underwent robotic completely endoscopic VSD repair due to chronic complaints. Her preoperative shunting was resolved, along with her significant tricuspid regurgitation and persistent symptoms after the surgery. This particular example adds to the scant information on robotic VSD repair that has already been published, demonstrating that it is a safe treatment when carried out by a committed surgical team skilled in minimally invasive robotic cardiac surgery. Scientists believe that in this situation, more patients can benefit from a robotic surgical technique with outstanding outcomes<a href="#accordion">[5]</a>. 
&nbsp;

Key Points

<ul>
	<li>Ventricular septal defect (VSD) is a congenital heart defect characterized by a hole in the wall separating the two ventricles of the heart.</li>
	<li>Accounting for 40% of all heart malformations, ventricular septal defect (VSD) is the most common congenital heart defect.</li>
	<li>The characteristic hole is present in the wall dividing the ventricles. This abnormal communication disrupts the flow of blood through the heart and lungs. Oxygenated blood from the left ventricle flows to the right ventricle and to the lungs instead of out of the body.</li>
	<li>Many VSDs close on their own, but if they don&#39;t, significant defects can cause harmful side effects such as pulmonary arterial hypertension, ventricular dysfunction, and a higher risk of arrhythmias.</li>
	<li>Congenital heart defects typically cause symptoms during the first few days or weeks of life. In VSD, symptoms depend on the size of the defect.</li>
	<li>In infants, moderate to large VSDs result in shortness of breath, fatigue during feeding, poor feeding, heart murmur, and failure to thrive.</li>
	<li>On the basis of extensive clinical research, there are essentially four main types of VSD, which are based on their anatomical location and the structure of the hole. These include membranous, muscular, inlet, and outlet VSD.</li>
	<li>The cause of VSD is currently unknown. It can occasionally be associated with other genetic abnormalities, heart problems, or deformities.</li>
	<li>The doctor may perform a fetal echocardiogram during the second trimester of pregnancy to evaluate the fetus for heart defects.</li>
	<li>A doctor can identify a VSD based on a patient&#39;s symptoms, a physical examination, and imaging testing, especially when the VSD is moderate- or large-sized.</li>
	<li>Echocardiography is typically used to diagnose a ventricular septal defect in infants.</li>
	<li>Most VSDs are too small to pose any problems, and will probably close on their own by the age of 6. In those situations, a medical professional is likely to advise against surgery, monitoring for symptoms, and waiting to see if the defect closes on its own.</li>
	<li>Moderate to large VSDs may require surgical closure. The doctor may stitch it close or patch the defect using synthetic material or a graft of the patient&rsquo;s own tissues.</li>
	<li>Risk factors for ventricular septal defect include premature birth, Down syndrome, and a family history of congenital heart defects.</li>
	<li>Adequate prenatal care, quitting smoking and alcohol, and prenatal vitamins can help reduce the risk of congenital heart defects in the unborn child. 
	&nbsp;</li>
</ul>

[1] Ventricular septal defect (VSD) (2022) Mayo Clinic. Mayo Foundation for Medical Education and Research.

[2] Dakkak W, Oliver TI. Ventricular Septal Defect. [Updated 2022 May 10].

[3] Abstract 20675: Prevalence and rate of spontaneous.

[4] Ventricular septal defect (VSD): What is it, types, causes & symptoms (no date) Cleveland Clinic.

[5] Mirzai S, Hibino N, Torregrossa G, Balkhy HH. Adult Ventricular Septal Defect Repair Using a Robotic Totally Endoscopic Approach: A Case Report. Innovations (Phila). 2020;15(4):372-375. doi:10.1177/1556984520922978

[6] Congenital heart defects - facts about ventricular septal defect (2022) Centers for Disease Control and Prevention. Centers for Disease Control and Prevention.

[7] Cox K, Algaze-Yojay C, Punn R, Silverman N. The natural and unnatural history of ventricular septal defects presenting in infancy: An echocardiography-based review. Journal of the American Society of Echocardiography. 2020;33(6):763-770. doi:10.1016/j.echo.2020.01.013

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