Congenital Heart Disease (CHD): Symptoms, Causes, Treatment

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

The U.S. Social Security Administration (SSA) has included Hypoplastic Left Heart Syndrome and Aortic Atresia as a Compassionate Allowance to expedite a disability claim.

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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, around one million persons with CHD live 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

Causes

In most persons with congenital heart disease, the cause is unknown. Some known risk factors 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 born to mothers with diabetes are five times more likely than other infants to have heart defects. Science is starting to identify genes 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 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. People experience valve defects, including leaky valves that don't close properly, allowing blood to leak backward.

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 can lead to heart failure. The signs of CHD can vary depending on the defects that the person experiences. Various types of congenital heart disease may lead to heart failure. Defects may cause either a mix of oxygen-poor and rich blood 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 breathe quickly. Older persons can experience a lowered tolerance for exercise.

Several Defects 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

Some types of CHD can lead to heart failure. Some defects permit blood to flow from the left side of the person's heart to the right side, overloading the person's heart until the heart fails. Additional defects can involve leakage of the person's heart valves that result in 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

some defects 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 narrowing the person's aortic valve, restricting the amount of blood pumped from the left ventricle out of the aorta.
• Pulmonary Stenosis: Pulmonary stenosis involves narrowing the person's pulmonic valve, restricting the amount of blood pumped from the right ventricle out of the 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.

Diagnosis

Often, the first thing a doctor will detect associated with congenital heart disease is an abnormal heart sound or murmur while 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 by measuring the 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 and 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 blood flow.
• 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 people may be experiencing within their lungs due to a heart problem.
• Pulse Oximeter: A pulse oximeter is a sensor placed on the tip of the person's finger or earlobe that reads the amount of oxygen in the person's blood.

There is an additional test that a doctor may need to perform that is more invasive, such as cardiac catheterization. Cardiac catheterization involves inserting a catheter into a blood vessel in the person's arm or leg fed into the person's heart. The catheter measures the pressures in the different chambers of the person's heart and can detect the mixing of blood between the two sides of the person's heart. Pictures of the person's heart may be taken by injecting a dye contrast through the catheter into the 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 that show that early detection of CHD improves a newborn's chances during surgery to correct heart defects.

Treatment

CHD Treatment depends on the individual and the severity of the congenital heart disease they are experiencing. Some milder heart defects 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 to prevent endocarditis.

Several congenital heart defects require either an interventional procedure or surgery 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 specializing in congenital heart disease. However, persons with some diseases will require a team approach as they grow into adulthood.

Doctors can detect and treat many congenital heart defects in infancy. Most involve abnormal connections between the infant's infant's arteries and heart arteries. 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 ineffective. There are catheter-based procedures that can be used to treat people with CHD that may be more effective if medications have not been. These procedures may include:

• A balloon-tipped catheter that expands the opening of the narrowed pulmonary artery can treat narrowing stenosis of the pulmonary artery. If balloon dilation is ineffective, 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 the insertion of a device or patch through a catheter to cover the hole.
  Arterial-venous fistulas are abnormal blood vessels that 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 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 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 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 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

Insights, Analysis, and Developments

Author Credentials: Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a CNA Thomas has providing care for people with all forms of disabilities. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.