What are the other Names for this Condition? (Also known as/Synonyms)

• VSD (Ventricular Septal Defect)

What is Ventricular Septal Defect? (Definition/Background Information)

• Congenital heart defects are relatively common birth defects involving the heart, and these may be of several types. Ventricular Septal Defect (VSD) is a common congenital heart abnormality characterized by the presence of a “hole” in the septum (wall) between the two lower chambers of the heart (i.e., the right ventricle and left ventricle)
• Due to this abnormality, there is an increase in the amount of blood flow from the heart to the lungs, which can result in long-term damage of the heart and lung (as it works harder) leading to pulmonary hypertension, arrhythmias, and even a stroke
• The severity of the condition depends on the size of the septal defect (hole), and the presence of other heart abnormalities. In some babies, the hole closes on its own over time; while in others, a surgical correction of Ventricular Septal Defect may be necessary. In many cases, the prognosis of the condition is good

Who gets Ventricular Septal Defect? (Age and Sex Distribution)

• Ventricular Septal Defect (VSD) affects the newborn child. It may be noted a few weeks after birth, but is sometimes not recognized until the child gets much older (since some are mild and typically asymptomatic)
• VSD is the most common form of congenital heart defect. The incidence of the condition is estimated to be anywhere around 1 in 19 to 1 in 640 live births (depending on various geographical locations)
• Both male and female genders are affected
• No racial or ethnic predilection is generally observed

What are the Risk Factors for Ventricular Septal Defect? (Predisposing Factors)

Currently, no risk factors for Ventricular Septal Defect are definitively known. However, the following may increase one’s risk for the same:

• A family history of heart structural abnormalities
• Exposure of the pregnant woman to environmental toxins and certain medications

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ventricular Septal Defect? (Etiology)

The exact cause of development of Ventricular Septal Defect (VSD) is not well-understood. It may develop from a combination of factors that may be genetic and environmental. It is also believed that what the expectant mother consumes, such as food, drink, or even some medications, may be contributive.

• During normal fetal development, the ventricular septum (wall) between the lower chambers close shortly before birth. However, in some cases, a hole that forms in the septum may be large and does not close normally, resulting in a Ventricular Septal Defect
• The severity of the condition is based on the size of the hole that can vary from one child to another. The associated signs and symptoms are mainly based on the magnitude of the defect (hole) and the presence of other underlying heart anomalies, if any seen

Based on the location of the hole, VSD is classified into the following types:

• Conoventricular Ventricular Septal Defect
• Perimembranous Ventricular Septal Defect
• Inlet Ventricular Septal Defect
• Muscular Ventricular Septal Defect - it is the most common form of VSD

What are the Signs and Symptoms of Ventricular Septal Defect?

Mild cases of Ventricular Septal Defect, where the hole is small in size, may be present without any signs and symptoms for a long period, sometimes even into adulthood. The signs and symptoms observed in other cases may include:

• Heart murmur (a whooshing sound may be heard via a stethoscope)
• Abnormal heartbeat
• Shortness of breath, usually after exercise or physical activity (this may be even observed in infants who are generally active)
• Respiratory issues
• Fatigue
• Infants feel tired upon feeding
• Poor weight gain
• Excess sweating

How is Ventricular Septal Defect Diagnosed?

The diagnostic tests and exams for Ventricular Septal Defect may include:

• Physical exam with evaluation of medical history. This includes listening to the heart using a stethoscope, to detect any unusual ‘whooshing’ sound
• Assessment of the presenting signs and symptoms, particularly breathing difficulties, tiredness, and frequent infections
• Newborn pulse oximetry screening may help the healthcare suspect the condition prior to symptom presentation
• Electrocardiogram (EKG), to measure electrical activity of the heart
• Fetal echocardiogram may be commonly used to confirm the diagnosis
• Chest X-ray, CT and MRI scan studies of the chest and abdomen, as needed
• Cardiac catheterization

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ventricular Septal Defect?

Complications due to Ventricular Septal Defect (VSD) are mostly due to a delay in detection and treatment of the condition and/or due to the presence of other accompanying heart defects. These include:

• High blood pressure in the lungs (pulmonary hypertension)
• Heart failure
• Stroke - there is an increased risk for a brain stroke
• Arrhythmia or irregular heart rhythms
• Untreated VSDs (due to mild symptoms) may increase one’s risk for endocarditis (a form of heart infection)
• Post-surgical complications

How is Ventricular Septal Defect Treated?

The treatment of Ventricular Septal Defect is based on the severity of the presenting signs and symptoms, the magnitude of the defect (wall), the overall health condition, and other associated medical conditions (if any). Management of the condition involves correcting the defect(s) and providing symptomatic treatments that include:

• Medications to address the symptoms
• Certain medicines prescribed before the surgery that may include:
  • Digoxin: Also known as digitalis, it is used in improving the strength of the heart muscles that help in contraction
  • Diuretics: These are known as water pills, and are used to increase the frequency and volume of urination with the aim to reduce excess accumulation of fluid in the body
• Children who have feeding difficulties may be recommended specialized high-calorie formulas or even the insertion of a feeding tube
• Surgery to correct the defect (closure of the hole):
  • It may be undertaken during cardiac catheterization
  • Open heart surgery may be performed to rectify the defect
• Medications to help the child heal post-surgery
• Regular health check-ups are essential

Taking steps to maintain a healthy heart after the surgery is important. This may be accomplished by:  

• Avoidance of smoking
• Avoiding high-fat diets (to prevent obesity)
• Limiting alcohol consumption
• Exercising regularly (per advise of the physician)
• Having a healthy diet
• Managing stress

How can Ventricular Septal Defect be Prevented?

Presently, there are no available guidelines to prevent Ventricular Septal Defect.

• Detecting early signs and symptoms combined with a timely diagnosis, holds the key to managing the disorder
• Identifying other accompanying heart ailments and preventing further complications is important
• Avoid non-prescriptive medications during pregnancy that may harm the fetus
• Folic acid intake: Tests and researches have proved that sufficient intake of folic acid decreases the risk for birth defects

Regular medical screening at periodic intervals with tests, scans, and physical examinations are mandatory for those who have already undergone surgical correction of the defect. Often, several years of active vigilance may be necessary.

What is the Prognosis of Ventricular Septal Defect? (Outcomes/Resolutions)

The prognosis of Ventricular Septal Defect (VSD) is generally good with adequate treatment.

• In some cases, the defect resolves spontaneously, and no surgical interventions may be necessary
• In individuals with severe VSD, a surgery may be necessary to correct the defect. In most cases, the outcomes of surgery to repair the defect is good
• A late recognition of the condition and lack of appropriate treatment may lead to complications and adverse outcomes

Additional and Relevant Useful Information for Ventricular Septal Defect:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/heart-center/