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Acyanotic Heart Defects Resources

What Is A Congenital Heart Defect?

Congenital Heart Defects (also called congenital heart disease, congenital heart malformations, or CHD) are actually group of more than thirty-five disorders in which the structure of the heart is somehow impaired, restricting normal blood circulation and/or heart function.

The word “congenital” means existing at birth. The terms “congenital heart defect” and “congenital heart disease” are often used to mean the same thing, but “defect” is more accurate. The heart ailment is a defect or abnormality, not a disease. A defect results when the heart or blood vessels near the heart don’t develop normally before birth. Working with your healthcare team, make sure to learn about the different types of congenital heart defects, treatments, and tests.

 Congenital heart defects produce their effects and symptoms through abnormal shunting of blood and alterations in pulmonary blood flow. CHD are often classified as congenital heart disease with cyanosis or congenital heart disease without cyanosis.

What Is The Difference Between Cyanotic and Acyonotic Heart Defects?

Acyanotic heart defects are heart problems that develop before or at birth but do not normally interfere with the amount of oxygen or blood that reaches the body’s tissues. Acyanotic heart defects include ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), pulmonary valve stenosis, aortic valve stenosis, and coarctation of the aorta.

Acyanotic heart defects do not usually cause cyanosis -a bluish tint to the skin, lips, and nail beds due to reduced oxygen flow. If cyanosis develops in a person with acyanotic heart defects, it is typically a sign that the heart can’t pump enough blood and may need more oxygen.

While acyonotic heart disorders are classified as “left to right shunts,” cyanotic heart disorders are commonly referred to “right-to-left shunts with obstruction. Cyanotic heart defects refers to a group of many different heart defects that are present at birth (congenital) that result in a low blood oxygen level. Cyanosis refers to a bluish color of the skin and mucous membranes common in these types of congentital heart defects.

What Is An Acyanotic Heart Defect?

An acyanotic heart defect is a congenital heart defect that does not usually interfere with the amount of blood oxygen that reaches the tissues of the body. Acyanotic heart defects do not – as the name implies – cause cyanosis, or a blue-tinge to the lips, skin, or nail beds. Acyanotic heart defects affect the atrial or ventricular walls, heart valves, or large blood vessels. Common causes include genetic defects (e.g., trisomies), maternal infections (e.g., rubella), or maternal consumption of drugs or alcohol during pregnancy. Acyanotic heart defects are characterized pathophysiologically by a left-to-right shunt, which causes pulmonary hypertension and right heart hypertrophy. The symptoms depend on the extent of the malformation and the resulting impairment of cardiac function. Babies born with acyanotic heart defects may not show any symptoms or symptoms may include present as exercise intolerance, failure to thrive, and symptoms of heart failure. Characteristic heart murmurs are important clues for establishing the diagnosis, generally confirmed by using echocardiography. A chest x-ray, MRI, or cardiac catheterization may be required to determine the indications for surgery and plan the procedure. Acyanotic heart defects requiring treatment are often repaired via catheter procedures or surgery. Supportive medical therapy is needed in cases of heart failure (such as diureticss) or if surgery cannot be performed. Common complications include cardiac arrhythmias, embolisms around the body, and infective endocarditis, especially if treatment is delayed.

Acyanotic heart defects include the following types of congenital heart defects:

  • Ventricular Septal Defect (VSD)
  • Atrial Septal Defect (ASD)
  • Patent Ductus Arteriosis (PDA)
  • Pulmonary Valve Stenosis
  • Aortic Valve Stenosis

The management and treatment of acyanotic heart defects depends upon the degree of the acyanotic heart defect, the symptoms the defect causes and the age of the person with an acyanotic heart defect. All will be described below in further detail.

Ventricular Septal Defects (VSD):

A Ventricular Septal heart defect is a condition in which an infant is born with one or more holes in the wall of the heart that separates the right and left ventricles of the heart.

Symptoms of Ventricular Septal Defects:

Many people who have Ventricular Septal Defects do not show any overt symptoms. If the hole that separates the ventricles is large enough, symptoms may include:

  • Difficulty breathing
  • Rapid breathing
  • Panting
  • Pallor
  • Failure to gain rate
  • Tachycardia
  • Sweating while eating
  • Frequent respiratory infections

Diagnosis of Ventral Septal Defect:

One of the first ways a ventricular septal defect is diagnosed is via a stethoscope, which can ascertain whether or not the infant has a heart murmur. The louder the heart murmur, the greater the size of the VSD.

Other tests may include:

  • Echocardiogram – can make a definitive diagnosis of a VSD or other congenital heart defect.
  • Cardiac MRI – can ascertain the amount of blood traveling to the lungs.
  • Chest X-Ray – can ascertain if the person has cardiomegaly (an enlarged heart) with fluid in the lungs.
  • ECG – will show signs of an enlarged left ventricle.

Treatment of Ventricular Septal Defects:

If the VSD is small, treatment is often not required. However, the infant should be carefully monitored by a pediatric cardiologist to ensure proper closure over time of the VSD.

Infants with a large VSD and symptoms of heart failure may use a combination of surgical closure of the hole and medications to control the symptoms.

Surgical intervention WITHOUT symptoms is a controversial procedure – be cautious if a cardiologist suggests this as a treatment.

Prognosis For Ventricular Septal Defects:

Most of the small VSD’s close on their own, and surgical repair of the hole. In the event a large VSD is not treated, there may be complications for the infant.

Complications of a Ventricular Septal Defect:

There are a number of complications with an untreated ventricular septal defect. These VSD complications can include:

  • Heart Failure
  • Failure to thrive
  • Aortic Insufficiency (the valve that separates the left ventricle from the aorta leaks.)
  • Damage to the electrical conduction system of the heart during surgical repair of the VSD
  • Infective endocarditis – an infection of the heart
  • Pulmonary hypertension leading to right-sided heart failure

Atrial Septal Defect (ASD):

An Atrial Septal Defect is an uncommon acyanotic heart defect present at birth, in which the wall of the upper chamber of the heart – the atria – doesn’t properly close.

While in utero, the fetus has an opening between the atria (the upper chambers of the heart) to allow for blood to bypass the lungs – which closes around birth. In an infant with an ASD, the blood shunts from the left to the right of the atria, increasing pressure in the lungs.

Smaller ASD may cause no problems and may not be diagnosed until much later in life, but if the ASD is large, many problems can occur.

Symptoms of Atrial Septal Defects:

While small to medium sizes of ASD may cause no symptoms (or remain asymptomatic until later in life), other ASD cause symptoms that may include:

  • Dyspnea (difficulties in breathing)
  • Shortness of breath, especially with activity
  • Frequent respiratory infections
  • Heart palpitations

Diagnosis of Atrial Septal Defects:

In some cases of ASD, a physician may be able to hear a heart murmur if the person is in certain positions. In other cases, no murmur will be noticed. Tests that may be performed to identify an ASD include:

  • Chest X-Ray
  • Doppler heart study
  • ECG
  • EKG
  • MRI of the heart
  • Transesophageal Echocardiography

Treatment of Atrial Septal Defects:

Similar to ventricular septal defects, an atrial septal defect that is small may require no treatment. If symptoms such as heart failure, cardiomegaly, or if the ASD is large may require surgical intervention.

Prognosis of Atrial Septal Defects:

In a person who has a small to medium sized ASD, a person may lead a normal life without any symptoms. Larger ASD may cause problems by middle age, leading to treatment at that time.

Complications of Atrial Septal Defects:

  • Cardiac Arrhythmias (especially atrial fibrillation)
  • Heart Failure
  • Stroke
  • Pulmonary Hypertension

Patent Ductus Arteriosis (PDA):

Patent Ductus Arteriosis (PDA) is a condition in which the ductus arteriosis (a blood vessel that allows the blood to go around the lungs of a fetus in utero that normally closes several days following birth) does not close properly. A Patent Ductus Arterosis causes abnormal blood flow between the aorta and the pulmonary artery. 

PDA is more common in girls and in premature infants as well as those who have genetic disorders (like Down Syndrome) or whose mothers had rubella during pregnancy. PDA is also more common in babies who have other congenital heart problems like transposition of the great vessels or hypoplastic left heart syndrome. 

Symptoms of Patent Ductus Arteriosis:

Many of the smaller PDA’s will produce no symptoms. However, if symptoms are present, they may include:

  • Rapid breathing
  • Tiring easily
  • Poor growth
  • Difficulty feeding
  • Tachycardia
  • Shortness of breath
  • Sweating while eating

Diagnosis of Patent Ductus Arterosis:

Many infants who have PDA have a heart murmur that can be heard via stethoscope. Others will not have a diagnosed PDA until later in life. Other tests may include:

  • Echocardiogram – makes a definitive diagnosis
  • Chest X-Ray – can indicate cardiomegaly or other changes

Treatment of Patent Ductus Arteriosis:

If the infant has no other heart defects and blood flow within the heart is normal, the treatment goal will be to close the PDA. However, a PDA can be lifesaving to infants who have other PDA’s, so the PDA may be left open.

Occasionally a PDA will close on it’s own. Premature infants born with a PDA often have it close naturally within the first two years of life. In full-term infants with a PDA, the PDA rarely closes on its own.

Many PDA’s will close via medication – these have only a few side effects and are the golden standard of treatment for a PDA.

If medications do not successfully close a PDA, the baby may have a surgical procedure to close the PDA.

Prognosis of Patent Ductus Arterosis:

If a small PDA does not close, the infant will develop symptoms with his or her heart. Should an infant with a larger PDA not receive treatment to close the PDA, other problems may arise. These problems include:

  • Pulmonary Hypertension
  • Infective Endocarditis
  • Heart Failure

Pulmonary Valve Stenosis:

Pulmonary Valve Stenosis is a rare acyanotic congenital heart defect that involves a defect in the pulmonary valve. The pulmonary valve separates the right ventricle of the heart and the pulmonary artery – the pulmonary artery transports unoxygenated blood to the lungs.

For an infant with pulmonary valve stenosis, his or her pulmonary valve doesn’t open wide enough, decreasing the amount of blood that flows to the lungs to get re-oxygenated.

Symptoms of Pulmonary Valve Stenosis:

Many infants who have a mild to moderate blockage may be asymptomatic. Symptoms, if present, become worse with activity and may include:

  • Chest pain
  • Fainting
  • Exhaustion
  • Cyanosis
  • Abdominal Bloating
  • Failure to thrive

Diagnosis of Pulmonary Valve Stenosis:

A heart murmur may be heard while listening to the heart of an infant with pulmonary stenosis. Diagnostic tests that may be used to diagnose Pulmonary Valve Stenosis include:

  • Chest X-Ray
  • ECG
  • Echocardiogram
  • Cardiac MRI

Treatment of Pulmonary Valve Stenosis:

Less severe cases of Pulmonary Valve Stenosis may not require any treatments. If other congenital heart defects are present, medications may be used to help with the following:

  • Prostaglandins – aid with blood flow through the heart
  • Help the heart be more strongly
  • Blood thinners to prevent clots
  • Diuretics – remove excess water
  • Treat heart arrhythmias

If no other cardiac defects are present, surgical intervention may be needed to repair or replace the pulmonary valve.

Prognosis for Pulmonary Valve Stenosis:

Approximately one third of infants with mild pulmonary valve stenosis improve, a third stay the same, while the final third have worsening symptoms. The presence of other congenital heart defects has much to do with the outcome.

Complications of Pulmonary Valve Stenosis:

As with many other congenital heart defects, there are complications related to Pulmonary Valve Stenosis. These complications include:

  • Cyanosis
  • Death
  • Heart Failure
  • Pulmonary regurgitation – leaking of blood into the right ventricle after surgical repair
  • Right ventricular hypertrophy

Aortic Valve Stenosis:

The aorta is the gigantic artery that carries blood from the heart, through the aortic valve and into the aorta. For a person with Aortic Stenosis, the aortic valve doesn’t open entirely, which decreases blood flowing from the heart. Aortic Stenosis can be congenital or acquired (through the build-up of plaque in the aorta).

This causes the pressure to increase inside the left ventricle of the heart, which in turn leads to the thickening of the walls of the left ventricle. This means reduced blood flow as well as angina. As the pressure in the left ventricle rises further, blood may back up into the lungs.

Symptoms of Aortic Stenosis:

Many people who have aortic stenosis may not notice symptoms immediately. Symptoms, if present, include:

  • Breathlessness with activity
  • Angina Pectoris
  • Fainting
  • Weakness
  • Dizziness
  • Heart palpitations
  • Fatigue following mild exertion
  • Severe breathing problems

Diagnosis of Aortic Stenosis:

If an infant has aortic stenosis, there may be a vibration in the chest. A heart murmur is almost always noted through a stethoscope. The following may be used to properly diagnose Aortic Stenosis:

  • Chest X-Ray – to look for evidence of cardiomegaly, or an enlarged heart
  • Doppler study of the heart
  • ECG
  • MRI of the heart
  • Transesophogeal Echocardiogram

Treatment of Aortic Stenosis:

If the infant is asymptomatic, or if symptoms are mild, the condition may be monitored closely by a cardiologist.

Lifestyle Adjustments:

  • Those who have more significant narrowing may be told to avoid (even if they are asymptomatic) playing sports
  • Older patients should stop smoking
  • If symptoms appear, strenuous activity should be avoided
  • Older patients should be treated for high cholesterol

Medications may be used to treat the symptoms:

  • Diuretics
  • Nitrates
  • Beta Blockers
  • Treatment for hypertension

Surgical Management:

Surgery may be performed to replace or repair the aortic valve.

Prognosis of Aortic Stenosis:

Without surgery, a person who has chest pain or heart failure, may not do well. Surgery can repair the aortic valve, although there’s always the possibility that the person will need another new valve later on.

Complications of Aortic Stenosis:

Those who have surgical management of aortic stenosis do quite well. However, the complications of aortic stenosis include:

  • Cardiac Arrhythmias
  • Infective Endocarditis
  • Left-sided Heart Failure
  • Enlargement of the left ventricle

Additional Acyanotic Heart Defects Resources:

Congenital Heart Defect Support Resources (Support Groups):

Mended Little Hearts – support program for parents of children with heart defects and heart disease.

It’s My Heart – non-profit organization that provides support to and advocates for those affected by Acquired and Congenital Heart Defects.

Adult Congenital Heart Resources:

Adult Congenital Heart Association – a non-profit organization dedicated to improving the quality of life for and extending the lives of adults living with congenital heart defects (CHD).

Congenital Heart Defect Researchers:

PCHA – The Pediatric Congenital Heart Association’s mission is to “Conquer Congenital Heart Disease.”  We are accomplishing this through collaboration with patients, parents, providers, and partner organizations in order to effectively advocate for improved quality and outcomes through CHD education, research and awareness.

Saving Tiny Hearts Foundation – raising seed money for grossly under-funded, lifesaving grass roots research of congenital heart defects (CHD’s)

Other Congenital Heart Defect Resources:

Saving Little Hearts – helps children with congenital heart defects and their families by providing emotional assistance and educational information primarily through the distribution of Care Packages.17/

International Congenital Heart Foundation – they bring the skills, technology and knowledge to cure and care for children with congenital heart disease to developing countries. ICHF does this regardless of country of origin, race, religion or gender.

Page last reviewed 6/2018 BSH