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Congenital Heart Disease (CHD)

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

Definition: Congenital heart disease (CHD)

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.

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

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.

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 Cardiovascular Disease
  • Congenital Septal Heart Defect
  • Congenital Heart Defect
  • Heart Birth Defect
  • Heart Defect

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:

  • Maternal diabetes mellitus
  • Genetic or chromosomal abnormalities, such as Down syndrome
  • Taking certain medications or alcohol or drug abuse during pregnancy
  • Maternal viral infection, such as rubella, in the first trimester of pregnancy

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:

  • Mixing of oxygen-rich and oxygen-poor blood
  • Hypoplastic left heart syndrome (HLHS)
  • Transposition of the great arteries
  • Low blood flow to the lungs
  • Critical pulmonary stenosis
  • Pulmonary atresia
  • Tricuspid atresia

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:

  • Recurrent respiratory infections
  • Difficulty eating and sucking
  • Low tolerance for exercise
  • Poor weight gain
  • Rapid breathing

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

  • Hypoplastic left heart syndrome (HLHS)
  • Patent ductus arteriosus (PDA)
  • Ventricular septal defect (VSD)
  • Atrial septal defect (ASD)
  • Interrupted aortic arch
  • Truncus arteriosus

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:

  • Aortic Stenosis: Aortic stenosis involves a narrowing of the person's aortic valve, resulting in a restriction of the amount of blood that can be pumped from their left ventricle out their aorta.
  • Pulmonary Stenosis: Pulmonary stenosis involves a narrowing of the person's pulmonic valve, restricting the amount of blood that can be pumped from their right ventricle out of their pulmonary artery.
  • Coarctation of the Aorta:A coarctation of the aorta is a condition in which the person's aorta is pinched, constricted or narrowed at some point along its length.
  • Peripheral Pulmonary Artery Stenosis: Peripheral pulmonary artery stenosis involves a narrowing of part of the person's pulmonary artery, resulting in a restriction of the amount of blood that can travel through their pulmonary artery and to their lungs.

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:

  • Electrocardiogram (EKG): An EKG records the electrical activity of the person's heart as a graph on either a strip of paper or a video monitor. The EKG machine detects disease, damage, and irregularities in the person's heart through measurement of their heart's electrical impulses and rhythms.
  • Echocardiogram: An echocardiogram uses sound waves to assist a doctor in visualizing the functions and structures of the person's heart. An echocardiogram displays a moving image of the person's beating heart on a video screen, showing the doctor the size, function, and thickness of the person's heart, as well as the motion and structure of their heart valves. The echocardiogram also reveals any possible leakage or narrowing in the person's heart. While the test is being performed, a Doppler ultrasound may also be performed to evaluate the flow of blood.
  • Chesk X-ray: A chest X-ray can help a doctor to see the size of the person's heart, as well as the flow of blood to the person's lungs. An X-ray can also show any secondary issues that the person's may be experiencing within their lungs due to a heart problem.
  • Pulse Oximeter: A pulse oximeter is a sensor that is placed on the tip of the person's finger or earlobe that reads the amount of oxygen in the person's blood.

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:

  • Transposition of the great vessels
  • Patent ductus arteriosus
  • Coarctation of the aorta
  • Heart valve problems
  • Tetralogy of Fallot

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:

  • Prostaglandin E1
  • ACE inhibitors
  • Beta blockers
  • Indomethicin
  • Inotropes
  • Diuretics
  • Digoxin

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:

  • A balloon-tipped catheter which expands, opening the narrowed pulmonary artery, can treat narrowing stenosis of the pulmonary artery. If balloon dilation is not effective, a wire mesh metal tube stent may be placed inside the narrow part and expanded to hold the vessel open.
  • Some types of atrial septal defects may be closed through insertion of a device or patch through a catheter to cover the hole.
    Arterial-venous fistulas are abnormal blood vessels which can be closed with stainless steel coils.
  • Coarctation of the aorta may be treated through either balloon dilation or stenting.
  • Aortic stenosis or pulmonary stenosis
  • Patent ductus arteriosus

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:

  • Closing ventricular septal defects (VSDs) and atrial septal defects (ASDs) with sutures or a patch made from either artificial material or the patient's own tissue.
  • Switching the great arteries back to their normal position and repositioning the coronary arteries in children who have transposition of the great arteries.
  • Repairing the atrioventricular valves and closing the VSDs and/or ASDs associated with AV septal defect.
  • Widening the pulmonic valve and closing the VSD associated with Tetralogy of Fallot.
  • Widening the narrowed aorta in children with coarctation of the aorta.

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:

  • Modified Blalock-Taussig procedure
  • Pulmonary artery band
  • Fontan procedure

Related:

  1. Heart Valve Disease Awareness Day - U.S. National Heart Valve Disease Awareness Day occurs annually on February 22 - Alliance for Aging Research
  2. Heart Murmurs: Symptoms, Causes and Treatment - A heart murmur is a sound that may be heard through a stethoscope and is created when blood passes through specific areas of the heart - Disabled World
  3. Aortic Stenosis - Facts and Information - Information on aortic stenosis a disease a person may experience from birth or later on in life - Disabled World









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