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Ventricular Septal Defect (VSD)

Overview

A ventricular septal defect (VSD), also referred to as a hole in the heart, is a common heart defect that is congenital. The defect involves an opening (hole) in the lower chambers of the heart, allowing oxygen-rich blood and oxygen-poor blood to mix.

It is observed that a baby with a small ventricular septal defect may have no problems, whereas a baby with a larger ventricular septal defect or associated heart defects may have a cyanosis (bluish discolouration of the skin) due to oxygen-poor blood. This is usually visible in the lips and fingernails. Ventricular septal defects sometimes go undiagnosed until adulthood.

Ventricular septal defect is treatable. The small ventricular septal defects often close on their own and do not cause problems. Many patients with small ventricular septal defects live normal, productive lives with few related problems. Some of the smaller ventricular septal defects are surgically repaired to prevent complications due to their locations. On the other hand, larger ventricular septal defects need surgical repair early in life to prevent complications.

Symptoms

Symptoms of serious ventricular septal defects usually appear within the first few days, weeks or months of a child's life.

Ventricular septal defect symptoms in a baby include:

  • Cyanosis (a bluish tint to the lips, skin, and fingernails)
  • Failure to thrive, poor appetite
  • Fast breathing or breathlessness
  • Easy tiring
  • Edema of legs, feet or abdomen
  • Rapid heart rate

Although the above signs can be caused by other conditions, they may indicate congenital heart defect.

Sometimes ventricular septal defect is not detected at birth. If the defect is small, the symptoms do not appear until later in childhood. Signs and symptoms vary based on the size of the hole. Sometimes a ventricular septal defect is not detected until the individual reaches adulthood. The general symptoms include shortness of breath and a loud heart murmur that is heard when listening to the heart with a stethoscope.

Causes

Congenital heart defects arise from problems early in the heart's development, but there is no clear cause. Genetics and environmental factors play a role.

A ventricular septal defect occurs when the septum (muscular wall separating the heart into left and right sides) fails to form fully between the lower chambers of the heart (ventricles) during foetal development. This leaves an opening that allows mixing of oxygenated blood and deoxygenated blood. Due to this, the heart has to work harder to provide enough oxygen to the body's tissues.

In the case of a larger ventricular septal defect the blood overfills the lungs and overworks the heart. If this defect is left untreated, there is pulmonary hypertension and the ventricles enlarge causing dysfunction of the ventricles. Ultimately, this leads to irreversible damage to the lung arteries and finally to heart failure. Small ventricular septal defects do not usually cause any problems. The only thing noticed is a loud heart murmur during physical exams.

Risk Factors

Ventricular septal defect is heredity and sometimes occurs with other genetic problems, such as Down syndrome. If one already has a child with a heart defect it is advisable to meet a genetic counselor who can predict the approximate odds that your next child will have one.

During pregnancy the following symptoms can increase the risk of having the baby with a heart defect:

  • Rubella infection : During pregnancy, if the mother is infected with rubella it increases the risk of foetal heart defects. The rubella virus is seen to cross the placenta and spread through the foetus circulatory system causing damage to the blood vessels and vital organs, including the heart.
  • Uncontrolled diabetes : Poorly controlled diabetes in the mother during pregnancy will in turn affect the foetus' blood sugar, causing damage to the developing foetus.
  • Alcohol use, drug use or exposure to certain substances : Use of certain medications, alcohol or drugs, exposure to chemicals, and radiation during pregnancy can have harmful effects on the developing foetus.

Complications

A small ventricular septal defect usually never causes any problems. Larger ventricular septal defects can cause a spectrum of disabilities ranging from mild to life-threatening. Treatment can avoid many complications.

Eisenmenger's syndrome: When a large ventricular septal defect is untreated it increases blood flow to the lungs causing high blood pressure in the lung arteries (pulmonary hypertension). Over a period of time there is permanent damage to the lung arteries and the pulmonary hypertension can become irreversible. Eisenmenger's syndrome usually develops in early childhood.

Other complications may include:

  • Heart failure : Due to the ventricular septal defect there is increased blood flow through the heart that can also lead to heart failure.
  • Endocarditis : Patients with a ventricular septal defect are at increased risk to develop endocarditis (infection of the heart).
  • Stroke : Patients with large defects, especially associated with Eisenmenger's syndrome, are at a high risk of a stroke due to blood clots that pass through the hole in the heart going to the brain.
  • Other heart problems : Ventricular septal defects can also lead to abnormal heart rhythms and valve problems.
  • Ventricular septal defect and pregnancy : Pregnancy is always a risk for women born with a heart defect. Women who have undergone repair of ventricular septal defect without any complications or having a very small defect does not increase the risk in pregnancy. However, an unrepaired larger defect, cyanosis, heart failure or other heart defects poses a high risk to both mother and foetus. Women with Eisenmenger's syndrome are at the highest risk of complications and are strongly advised against pregnancy.