Congenital Heart Disease (Adult)

At the Montefiore Einstein Center for Heart and Vascular Care, you can access exceptional care for congenital heart disease. As a global leader in cardiovascular medicine and surgery, we are an academic-based, national and international referral site for high-risk and complex cases. For more than a century, we have been at the forefront in treating heart disease.

Ranked in the top one percent of all hospitals in the nation for Cardiology, Heart & Vascular Surgery according to U.S. News & World Report, our specialists are passionate about uncovering the latest diagnostic approaches and treatments that can improve outcomes. Backed by a multidisciplinary team of specialists, Montefiore Einstein continues to make advances in the treatment of heart disease. In recent years, we have expanded our programs in advanced cardiac imaging, heart failure and interventional cardiovascular medicine and assembled a world-renowned cardiothoracic surgical team.

When you trust us with your care, you can expect compassionate, personalized treatment plans that meet the highest standards for quality and safety. In addition, we offer patients a full choice of support services, from nutritional guidance to rehabilitative therapies.

When you need care for congenital heart disease, turn to our dedicated providers who will develop a highly personalized treatment plan specific to you.

There are many types of congenital heart defects. They range from simple to complex and critical. Simple defects, such as atrial septal defect and ventricular septal defects, may have no symptoms and may not require surgery. Complex or critical defects such as hypoplastic left heart syndrome may have severe, life-threatening symptoms. Babies born with a critical congenital heart defect typically have low levels of oxygen soon after birth and need surgery within the first year of life.

An atrial septal defect is a hole in the wall between the atria, which are the two upper chambers of the heart. The hole causes blood to flow from the left atrium and mix with the right atrium, instead of going to the rest of the body. Atrial septal defect is considerered a simple congenital heart defect because the hole may close on its own as the heart grows during childhood, and repair may not be necessary.

This common type of simple congenital heart defect occurs when a connection between the heart’s two major arteries does not close properly after birth. This leaves an opening through which blood can flow when it should not. Small openings may close on their own.

Pulmonary stenosis is a narrowing of the valve through which blood leaves the heart on its way to the lungs. Visit our Heart Valve Disease Health Topic to learn more. Many children with pulmonary stenosis do not need treatment.

A ventricular septal defect is a hole in the wall between the ventricles, which are the two lower chambers of the heart. Blood may flow from the left ventricle and mix with blood in the right ventricle, instead of going to the rest of the body. If the hole is large, this may make the heart and lungs work harder and may cause fluid to build up in the lungs.

This is the most common complex congenital heart defect. Tetralogy of Fallot is a combination of four defects:

• Pulmonary stenosis.
• A large ventricular septal defect.
• An overriding aorta. With this defect, the aorta is located between the left and right ventricles, directly over the ventricular septal defect. As a result, oxygen-poor blood from the right ventricle can flow directly into the aorta instead of into the pulmonary artery.
• Right ventricular hypertrophy. In this case, the muscle of the right ventricle is thicker than usual because it has to work harder than normal.

Common congenital heart defects include:

• Coarctation of the aorta
• Double-outlet right ventricle
• D-transposition of the great arteries
• Ebstein’s anomaly
• Hypoplastic left heart syndrome
• Interrupted aortic arch
• Pulmonary atresia with intact ventricular septum
• Single ventricle
• Total anomalous pulmonary venous return
• Tricuspid atresia
• Truncus arteriosus

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Congenital heart defects are the most common type of birth defect, occurring in about one percent of live births in the United States. If your child has a congenital heart defect, you may think you did something wrong during your pregnancy to cause the problem.

However, doctors often do not know why congenital heart defects occur. Researchers do know that the risk of having a baby with a congenital heart defect is influenced by family history and genetics, the mother’s health, sex, and exposure during pregnancy to environmental factors, such as smoke or certain medicines. Other medical conditions can also raise your risk for having a baby with a congenital heart defect.

Congenital heart disease is not usually passed along to your children, but there is some risk. The risk is increased if your baby’s other parent or another of your children has a congenital heart defect.

Exposure to certain substances during pregnancy may increase your risk of having a baby with a congenital heart defect.

• Smoking during pregnancy or exposure to secondhand smoke.
• Taking some medicines—such as angiotensin-converting enzyme (ACE) inhibitors for high blood pressure and retinoic acids for acne treatment—in the first trimester.

Some medical conditions increase the risk of having a baby with a congenital heart defect, such as:

• Diabetes. Your risk is higher if you have diabetes before pregnancy, or if you are diagnosed with diabetes while you are in your first trimester. However, a diagnosis of gestational diabetes, which occurs later in the pregnancy, is not a major risk factor.
• Phenylketonuria. This rare, inherited disorder affects how your body processes a protein called phenylalanine, which is found in many foods. Getting phenylketonuria under control before getting pregnant can reduce your risk of having a baby with a congenital heart defect.
• Rubella. Infection with the rubella virus, also known as German measles, during pregnancy increases your risk.

Congenital heart defects can occur in either sex. Congenital heart defects are slightly more common at birth in boys than girls. Some congenital heart defects are a characteristic of conditions such as Turner syndrome that more commonly affect females.

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Some congenital heart defects cause few or no signs and symptoms. Since more children with congenital heart defects are living longer, we now know that complications can develop later in life. Signs, symptoms, and complications will vary based on the type of congenital heart defect that you or your child have.

Signs and symptoms may be different for newborns and adults. They also depend on the number, type, and severity of the heart defect. Some common signs and symptoms include:

• Cyanosis
• Fatigue
• Heart murmurs
• Poor blood circulation
• Rapid breathing

Congenital heart defects do not cause chest pain or other painful symptoms. Older children or adults may get tired easily or short of breath during physical activity.

Did you know undiagnosed and untreated tetralogy of Fallot causes a recognizable set of symptoms in babies and children?

Babies who have tetralogy of Fallot may have  episodes known as tet spells because of sudden drops in the levels of oxygen in their blood after periods of activity, crying, or bowel movements.

In a tet spell, the baby turns very blue and may also show these signs and behaviors:

• Difficulty breathing
• Fatigue
• Lack of response to a parent's voice or touch
• Limpness
• Loss of consciousness
• Unusual fussiness

Children with tetralogy of Fallot also may have Clubbing. This is rare in the United States and is usually seen in older children who have not had the heart defect repaired.

Complications depend on the type of congenital heart defect you have. Some of the possible complications include:

• Arrhythmia
• Blood clots
• Developmental disorders and delays. Children with congenital heart defects are more likely to have problems with behavior. They are also more likely to have speech and attention-deficit/hyperactivity disorders.
• Emotional health issues. Depression, anxiety, and post-traumatic stress disorder are common among people with congenital heart defects.
• Endocarditis, a type of heart inflammation
• Endocrine disorders, including thyroid problems, bone health issues, and diabetes. Problems with the hormones that deal with calcium can cause bone problems.
• Heart failure. Heart failure is the leading cause of death in adults with congenital heart defects. Some children with congenital heart defects develop heart failure.
• Kidney disease
• Liver disease
• Pneumonia. Pneumonia is a leading cause of death in adults with congenital heart disease.
• Pregnancy complications. Women with congenital heart defects have an increased risk of complications during pregnancy and childbirth. Read more in our Living With section.
• Pulmonary hypertension
• Stroke

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Congenital heart defects happen because the heart does not develop normally while the baby is growing in the womb. Doctors often do not know why congenital heart defects occur. Researchers do know that genetics can sometimes play a role.

It is common for congenital heart defects to occur because of changes in the child’s DNA. The changes in the DNA may or may not have come from the parents.

Rarely, congenital heart defects are caused by particular genes that are inherited from the parents. That means a parent who has a congenital heart defect may have an increased risk of having a child with the defect.

• Risk Factors will discuss medical conditions that can increase the risk of having a baby with a congenital heart defect.
• Treatment will discuss medicines and surgery that your or your child’s doctor may recommend if you or your child is diagnosed with a congenital heart defect.

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