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Congenital Heart Disease (CHD)

  • Published: 2009-06-09 (Revised/Updated 2017-01-04) : Author: Thomas C. Weiss : Contact: Disabled World
  • Synopsis: Congenital heart disease (CHD) is a heart disease that is present in the person when they are born.

Quote: "Congenital heart defects can present symptoms in persons at birth or during childhood, although sometimes symptoms may not appear until the person reaches adulthood."

Main Document

Congenital heart disease (CHD) is a heart disease that is present in the person when they are born. There are a number of different forms of congenital heart defects which vary in their severity. These defects can affect different structures in the person's heart, to include the veins leading to their heart, the heart valves, the arteries that leave their heart, as well as the different interrelationships and connections between these different parts of the person's heart.

Congenital heart disease (CHD) is a heart disease that is present in the person when they are born. There are a number of different forms of congenital heart defects which vary in their severity. These defects can affect different structures in the person's heart, to include the veins leading to their heart, the heart valves, the arteries that leave their heart, as well as the different interrelationships and connections between these different parts of the person's heart. CHD may even affect the very location of the person's heart within their chest.

A doctor might suspect that a child has a heart defect if the child is not growing as they might be expected to, has a heart murmur, is experiencing cyanosis, or has difficulty breathing. Every year approximately thirty-six thousand children are born with CHD in America. Today, there are around one-million persons with CHD living in the United States. Congenital Heart Disease is also known as:

Congenital Heart Disease Causes

In the majority of persons with congenital heart disease, the cause is unknown. There are some known risk factors that have been associated with the chance of getting congenital heart disease. If a parent or sibling has a congenital heart defect the risk of having a child with a heart defect doubles. The known risk factors for congenital heart disease include:

Research into the potential causes of CHD has revealed some interesting findings. Researchers have found that infants who are born to mothers with diabetes are five times more likely than other infants to have heart defects. Science is starting to identify genes that are associated with CHD, creating the hope that the discovery of additional genes may play a role in the development of CHD, as well as discoveries of how treatments for CHD can be established. Research has found that exposure to pesticides during pregnancy can increase the risk for a form of CHD known as, 'Transposition of the Great Arteries (TGA).' Mothers exposed to herbicides during pregnancy were three times more likely to have a child with TGA; women exposed to rat poison were five times as likely to have a child born with TGA. Research has also discovered that persons with oral clefts were sixteen times more likely to experience a congenital heart defect, although the reason why is unknown.

Congenital Heart Disease Symptoms

Congenital heart defects can present symptoms in persons at birth or during childhood, although sometimes symptoms may not appear until the person reaches adulthood. The most common congenital heart problems that people experience include:

Heart valve defects:

Heart valve defects such as a narrowing or stenosis of the valves, or complete closure that impedes or prevents forward blood flow can occur. Other valve defects people experience include leaky valves that don't close properly, allowing blood to leak backwards.

Defects in the walls between the atria and ventricles of the heart: Defects in the walls between the atria and ventricles of the person's heart allow abnormal mixing of oxygenated and un-oxygenated blood between the right and left sides of the heart.

Heart Muscle Abnormalities:

Heart muscle abnormalities that can lead to heart failure. The signs of CHD can vary depending upon the defects that the person experiences. There are also various types of congenital heart disease which may lead to heart failure. Defects may cause either a mix of blood that is oxygen poor and rich to flow through the person's body, or decreased blood flow to their lungs, resulting in an inadequate supply of oxygen. Classic signs of cyanosis include a bluish tinge around the person's skin, most often around their fingernails, tongue, and lips. Infants may feed poorly and breath quickly. Older persons can experience a lowered tolerance for exercise.

There are a number of Defects that may cause cyanosis. These defects include:

There are some types of CHD which can lead to heart failure. Some of the defects permit blood to flow from the left side of the person's heart to the right side, overloading the person's heart until their heart fails. Additional defects can involve leakage of the person's heart valves that results in an enlargement and decreased efficiency of one or more of their heart's chambers. The signs of heart failure can include:

Defects that may result in heart failure can include the following:

There are defects that are characterized by the abnormal narrowing of a structure within a person's heart. These defects are known as, 'Stenotic Defects,' and can cause either left or right ventricle failure; depending upon their severity. Stenotic defects can include:

Congenital Heart Disease Diagnosis

Many times, the first thing a doctor will detect that is associated with a congenital heart disease is an abnormal heart sound or murmur while they are listening to the person's heart. Depending on the type of murmur the doctor hears, they may order additional testing. These tests may include:

There are additional test that a doctor may need to perform that are more invasive, such as cardiac catheterization. Cardiac catheterization involves insertion of a catheter into a blood vessel in the person's arm or leg which is fed into the person's heart. The catheter measures the pressures in the different chambers of the person's heart, and is able to detect the mixing of blood between the two sides of the person's heart. Pictures of the person's heart may be taken through injection of a dye contrast through the catheter into the person's heart and great arteries. Some congenital heart lesions may be treated using interventional catheterization.

Sometimes, CHD can be diagnosed while the child is still within a mother's womb. There have been studies which show that early detection of CHD improves a newborn's chances during surgery to correct heart defects.

Congenital Heart Disease Treatment

Treatment of CHD is dependent on not only the individual, but the severity of the congenital heart disease they are experiencing. There are some milder heart defects that do not require treatment. Other forms of heart defects can be treated through the administration of medications. Other forms of CHD can be treated with procedures, or surgery. Many adults with CHD should be monitored by a heart specialist, taking precautions in order to prevent endocarditis.

A number of congenital heart defect require either an interventional procedure or surgery in order to repair the problem. Many times, children with CHD need treatment with medications as well to improve their heart function. Both children and adults with CHD should receive treatment from a cardiologist who specializes in congenital heart disease, although persons with some forms of the disease will require a team approach as they grow into adulthood.

There are many congenital heart defects that doctors can detect and treat in infancy. The majority of them involve abnormal connections among the infants veins, arteries, and the arteries of their heart. Examples of CHD in infants and children can include:

Medications may be the first line of treatment for many persons with CHD. There are different factors that a doctor takes into consideration, such as the severity and type of the defect the person has, their age, and additional related elements. Some of the medications that a doctor may prescribe include:

More invasive treatments may be needed if medications are not effective. There are catheter-based forms of procedures that can be used to treat person's with CHD that may be more effective where medications have not been. These procedures may include:

Surgery is something that may become needed when none of the catheter-based procedures are effective, or would be. Surgery may relieve the symptoms the person experiences, yet may not cause their blood to flow normally. Examples of surgery that relieves symptoms but does not fix the underlying problem can include:

There are also forms of surgery that can be used in order to improve the person's condition, yet do not completely repair the person's heart. These forms of surgery include:


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