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Congenital Heart Disease (CHD)

What is Congenital Heart Disease?

Congenital heart disease is the most common type of birth defect, occurring in almost 1% of births. It is a structural problem that occurs when the heart or major blood vessels do not develop properly, generally between 2½ to 7½ weeks after conception.

In the initial six weeks of pregnancy, the fetus’s heart begins to develop, with his heartbeat heard with a steady rhythm at six weeks. Simultaneously, the crucial development of the major blood vessels, responsible for transporting blood to and from the heart also takes place.

This stage marks a critical point in the fetus’s growth, where congenital heart defects could potentially emerge. Nowadays, many advanced therapies and procedures are available to treat congenital heart disease in the fetal stages and after birth, increasing the chance of overcoming the condition and living a healthy and productive life.

At the Edmond J. Safra International Congenital Heart Center of Sheba Medical Center in Israel, we provide a wide range of treatments and technologies that our heart patients require. Our world-class cardiothoracic surgeons perform approximately 400 surgeries and 300 catheterization procedures per year, in addition to over 150 specialized treatments for more than 150 different forms of congenital heart defects.

Congenital Heart Disease page

Types of CHD

There are a minimum of 19 different categories of congenital heart defects, encompassing numerous anatomical deviations, which can be categorized into two main groups: cyanotic and acyanotic.

Cyanotic Congenital Heart Disease

Cyanotic congenital heart disease encompasses a group of heart defects present at birth, leading to decreased oxygen levels in the blood. As a result, a blueish tint, termed “cyanosis,” appears on the skin, lips and nails. These defects often involve abnormal mixing of oxygen-rich and oxygen-poor blood within the heart or reduced blood flow to the lungs.

Ebstein’s Anomaly

This condition is characterized by the malformation of the tricuspid valve, the valve that separates the top and bottom right heart chambers. As a result, the valve does not seal as it should, causing blood to flow in reverse from the bottom to the top chamber, thereby overburdening the heart. Typically, people with Epstein’s anomaly have an enlarged heart, and when not treated adequately, it can progress to heart failure.

Hypoplastic Left Heart Syndrome (HLHS)

This is a severe congenital heart defect in which the left side of the heart is underdeveloped. This includes the left ventricle, mitral valve, aorta, and aortic valve. As a result, the left side of the heart cannot effectively pump oxygen-rich blood to the body. Infants with HLHS require multiple surgeries to reroute blood flow, and without early intervention, the condition is fatal.

Interrupted Aortic Arch (IAA)

IAA is a rare condition in which the aorta isn’t properly developed, preventing blood circulation throughout the infant’s body. The aorta is a large blood vessel that carries blood from the heart to the rest of the body. It’s normally shaped like a candy cane, but in this condition, that arch is not fully formed or disrupted.

Pulmonary Atresia

This condition is characterized by the inability of the pulmonary valve, which enables blood to flow from the heart to the lungs, to develop abnormally. Rather than opening and closing to allow blood to travel from the heart to the lungs, it holds a solid tissue layer. As a result, blood cannot follow its usual route to obtain oxygen from the lungs. Instead, some blood reaches the lungs through alternative channels within the heart and its arteries.

Tetralogy of Fallot (TOF)

A tetralogy of fallot (TOF) is a heart defect with four problems – a hole between the lower chambers of the heart, an obstruction from the heart to the lungs, the aorta (blood vessel) lies over the hole in the lower chambers, and the muscle surrounding the lower right chamber becomes overly thickened.

Total Anomalous Pulmonary Venous Return (TAPVR)

Total anomalous pulmonary venous return is a condition in which the pulmonary veins, which transport blood from the lungs, connect to an incorrect part of the heart, altering the usual vein connections. This misconnection results in the mixing of oxygen-depleted blood with oxygen-saturated blood.

Transposition of the Great Arteries (TGA)

This condition is when the two main arteries leaving the heart, the pulmonary artery and the aorta, are switched in position. This results in oxygen-rich blood being circulated back to the lungs while oxygen-poor blood flows to the rest of the body.

Tricuspid Atresia

Similar to pulmonary atresia, this is a condition where the valve between the two right chambers fails to develop. Instead, a solid tissue barrier blocks the blood flow between the right chambers. Consequently, this anomaly results in limited blood flow through the heart, causing an underdeveloped right ventricle.

Truncus Arteriosus

Truncus arteriosus is a rare, life-threatening congenital heart defect where a single large blood vessel, instead of the usual two separate vessels (aorta and pulmonary artery), emerges from the heart. This single vessel carries blood from the heart to both the lungs and the rest of the body. Additionally, there’s often a hole (ventricular septal defect) between the heart’s lower chambers. This combined abnormality means oxygen-rich and oxygen-poor blood mix, causing the heart to work harder and leading to potential health complications.

Acyanotic Congenital Heart Disease

These conditions refer to a group of congenital heart defects where there is no significant mixing of oxygen-poor (blue) blood with oxygen-rich (red) blood within the heart. As a result, there isn’t a noticeable blue or purple tint to the skin, lips, or nails, a condition termed “cyanosis.” In these defects, blood flow is typically increased to the lungs, leading to symptoms like breathlessness or fatigue. Examples include atrial septal defect and ventricular septal defect.

Aortic (Valve) Stenosis

Aortic valve stenosis is a condition where the heart’s aortic valve narrows, restricting blood flow from the heart to the aorta, and subsequently to the rest of the body. This narrowing can strain the heart, leading to thickening of the heart muscle, chest pain, and shortness of breath.

Atrial Septal Defect (ASD)

Atrial septal defect is characterized by a hole in the septum separating the heart’s atria. This allows oxygen-rich blood to mix with oxygen-poor blood, leading to an increased workload on the heart and potential complications if untreated.

Atrioventricular Canal (AVC) Defect

This defect is marked by a large hole in the center of the heart, combined with issues in the heart’s valves. It results in the mixing of oxygen-rich and oxygen-poor blood, making the heart work harder and potentially causing enlargement or failure if not addressed.

Bicuspid Aortic Valve (BAV)

Normally, the aortic valve has three leaflets or cusps. In the bicuspid aortic valve, there are only two. This can affect the valve’s functionality, leading to stenosis or leakage, which can strain the heart over time.

Coarctation of the Aorta

This is a congenital condition where a part of the aorta is narrower than usual, inhibiting proper blood flow. It can increase blood pressure and strain the heart, leading to potential complications if not treated.

Patent Ductus Arteriosus (PDA)

Normally, the ductus arteriosus, a blood vessel in the fetus, closes after birth. If it remains open, it can lead to excessive blood flow to the lungs. This might result in heart failure if not corrected.

Patent Foramen Ovale (PFO)

Before birth, the foramen ovale allows blood to bypass the lungs. After birth, it usually closes. If it remains open, it’s called a patent foramen ovale, allowing some blood to bypass the lungs, although many individuals remain symptom-free.

Pulmonary Artery Stenosis

This condition involves the narrowing of the pulmonary artery, restricting blood flow from the heart to the lungs. It can lead to breathlessness, fatigue, and other complications if the blood flow becomes severely limited.

Pulmonary (Valve) Stenosis

In this defect, the pulmonary valve, which allows blood to go to the lungs, is narrowed or obstructed. This restricts blood flow, making the heart pump harder, potentially leading to an enlarged heart or other issues.

Ventricular Septal Defect (VSD)

This involves a hole in the wall separating the heart’s lower chambers (ventricles). This defect can cause oxygen-rich blood to mix with oxygen-poor blood, leading to potential heart strain and other complications if not treated.

Symptoms of CHD

The manifestations of congenital heart disease differ based on the age of the affected individual.

In newborns, the symptoms of congenital heart disease may be more immediate and pronounced:

  • Rapid breathing: A newborn might breathe at an unusually fast rate, indicating difficulty in getting oxygen.
  • Deep rib retraction during breathing: The baby’s ribs may appear to sink deeply when they breathe, showing that they are working harder to inhale or exhale.
  • Cyanosis: This is a bluish discoloration observed in the skin, lips, and fingernails due to decreased oxygen in the bloodstream.
  • Fatigue: The baby might appear lethargic or tire easily, particularly during feeding.
  • Poor feeding: Difficulty in feeding or reduced interest in feeds can be a sign.
  • Lung infections: A compromised heart can lead to frequent lung infections or respiratory challenges.
  • Poor weight gain: Despite feeding appropriately, a baby might not gain weight at the expected rate due to the heart’s inefficiency.

In older children, the symptoms might be more varied and subtle, indicating a chronic underlying issue:

  • Fatigue: Children may tire more quickly than their peers during physical activities.
  • Reduced exercise tolerance: There might be a noticeable difficulty in keeping up with physical activities, leading to exhaustion or breathlessness faster than others of their age.
  • Rapid or labored breathing: Breathing difficulties can either be constant or only become evident during physical exertion.
  • Swelling: Areas like the feet, ankles, and legs may swell due to fluid accumulation, a sign the heart isn’t pumping efficiently.
  • Loss of consciousness: Fainting spells or sudden loss of consciousness can be indicative.
  • Diminished appetite: A decrease in hunger levels or outright refusal to eat.
  • Unexplained chronic stomach ache: Persistent stomach pain without any apparent cause could be a lesser-known symptom of an underlying heart issue.

CHD Causes and Risk Factors

While it is impossible to always predict when or why congenital heart disease happens, some factors, such as several genetic, environmental, and maternal factors have been identified which raise the risk for a fetus to develop the condition. When these are identified, women are recommended to undergo a fetal echocardiogram to inspect the heart development and condition of the fetus.

The most common risk factors include:

  • Genetic and Hereditary Factors:
    • Family history: If a parent or sibling has a congenital heart defect, the baby is more likely to develop one, too.
    • Chromosomal abnormalities: Children with genetic conditions like Down syndrome, Turner syndrome, and others often have associated heart defects
  • Maternal Health and Conditions:
    • Diabetes: Mothers with type 1, type 2, or gestational diabetes may have an increased risk of having a child with CHD.
    • Rubella (German Measles): Contracting rubella during pregnancy can increase the risk.
    • Lupus: An autoimmune disease.
    • Phenylketonuria (PKU): A rare genetic disorder.
  • Medications and Drugs:
    • Certain medications taken during pregnancy, such as some anti-seizure medications, lithium, and isotretinoin (a drug used for severe acne).
    • Consumption of alcohol or illicit drugs during pregnancy.
  • Environmental Factors:
    • Exposure to certain chemicals or environmental toxins during pregnancy.
  • Maternal Age:
    • Advanced maternal age (usually considered as 35 or older) can be a risk factor for certain types of congenital heart defects.
  • Maternal Lifestyle Factors:
    • Smoking during pregnancy.
    • Poor nutrition or obesity.
  • Infections During Pregnancy:
    • Certain infections, if contracted by the mother during pregnancy, can increase the risk, such as toxoplasmosis.

It’s essential to note that having one or even several risk factors does not guarantee that a child will be born with a congenital heart defect. That said, many children are born with CHD without any known risk factors being present.

CHD Diagnosis

Diagnosing congenital heart disease is a critical step in ensuring timely and appropriate medical intervention. Congenital heart defects, present at birth, can range from simple to complex conditions, affecting the structure and function of a child's heart. Early detection often involves a combination of specialized tests, physical examinations, and medical imaging. If undetected at birth, a congenital heart defect may be suspected if the infection has growth delays or changes in the color of the lips, tongue, or fingernails.

Physical Exam / Exercise Stress Test

During a physical examination, doctors check for signs of congenital heart disease, such as a heart murmur, cyanosis, or unusual pulses. An exercise stress test measures the heart’s response to physical activity. The patient exercises on a treadmill or stationary bike while their heart rate, breathing, and blood pressure are monitored to detect potential abnormalities.

Cardiac Catheterization

Cardiac catheterization involves inserting a thin tube (catheter) into a blood vessel and guiding it to the heart. This provides valuable information about the heart’s chambers, blood flow, and pressures, allowing doctors to diagnose and sometimes treat heart defects.

Chest X-Ray

A chest X-ray provides images of the heart and lungs. It can be used to check whether there’s an excess amount of blood in the lungs, or whether the heart is larger than normal, as both may be signs of heart disease. It can reveal signs of heart failure, lung issues, and structural abnormalities of the heart, aiding in the diagnosis of congenital heart disease.


An echocardiogram, also known as an echo, uses sound waves to produce detailed images of the heart’s structure and function. This painless and noninvasive test can show the size, shape and movement of heart valves and chambers, helping to identify any congenital anomalies or malfunctions.

There is no need for special preparation, except in the case of a child who needs a sedative. A sedative will only be given to the child who has difficulty staying calm and quiet during the test.

The technician will apply a small amount of transparent gel on the child’s chest and then scan their chest with the help of a 15 cm long probe. The image of the heart is obtained on the screen of the echocardiogram machine.

When the machine records the blood flow passing through the heart, you will be able to hear the heartbeat. During the test, your children may feel slight pressure caused by the probe passed over the chest by the technician.

The test takes about 30 minutes to complete.

Electrocardiogram (ECG)

This noninvasive test records the electrical activity of the heart. Sticky patches with sensors (electrodes) are placed on the skin of the chest. Wires connect the patches to a device, which displays results, detecting abnormal heart rhythms, indicating areas of damage, and providing insights into heart muscle function.

Pulse Oximetry

A test used to measure the oxygen level (oxygen saturation) in the blood. It is an easy, painless measure of how well oxygen is being sent to parts of your body furthest from your heart, such as the arms and legs. A small sensor is placed on the fingertip, and using light, it determines the percentage of oxygen in the blood. Too little oxygen may be a sign of a heart or lung problem.

Transesophageal Echocardiogram (TEE)

A type of echo test that uses sound waves to create pictures of your heart. Unlike other types of echo tests, a TEE creates pictures from inside your body. This procedure involves passing a thin, flexible tube down the esophagus to get a more detailed image of the heart. A TEE can diagnose many problems, including blood clots and infections in your heart. It offers a closer view than a standard echocardiogram, especially useful for certain conditions or when assessing the heart’s back structures.

Cardiac Computed Tomography (CT) Scan

A cardiac CT scan provides detailed cross-sectional images of the heart. By using X-rays, it can highlight structural abnormalities, vessels, and surrounding tissues, offering a comprehensive view of the heart’s anatomy. This quick but detailed and high resolution scan shows your physician problems with your heart structure, valves, arteries, aorta and more.

Cardiac Magnetic Resonance Imaging (MRI)

An MRI of the heart uses magnetic fields and radio waves to create detailed 3D images of the heart and surrounding structures, allowing for more accurate measurements of the heart and its cavities. It can show congenital heart defects, measure the heart’s function and provide insights into blood flow, making it a valuable tool for diagnosis and treatment planning.

CHD Treatment

At Sheba, our medical professionals are committed to providing congenital heart disease patients with optimal comfort and minimal distress throughout treatment. We address a broad range of congenital heart anomalies and conduct numerous intricate surgical procedures, occasionally in conjunction with cardiac catheterization. In our cutting-edge Congenital Heart Center, pediatric specialists carry out heart disease surgeries on low-weight newborns (under 2.5 kg). We provide many types of treatments for congenital heart disease, including:

Cardiac Catheterization

During the procedure, a thin flexible tube (catheter) is threaded through the blood vessels to the heart.

Diagnostically, it helps doctors understand the heart’s anatomy, measure pressures within the heart chambers, and observe blood flow patterns. Therapeutically, it allows for interventions such as widening narrowed blood vessels, closing off blood vessels or heart defects, and replacing faulty heart valves.

This minimally invasive approach often offers a shorter recovery time and less discomfort than open-heart surgery, making it a preferred choice for certain heart conditions.

Heart Surgery

Heart surgery remains a cornerstone in treating many congenital heart defects, especially those that can’t be addressed with catheterization alone. Surgeons can repair anomalies like holes in the heart, valve defects, and more complex structural abnormalities.

The type and approach of surgery depend on the nature of the defect. Open-heart surgery might involve using a heart-lung machine, which takes over the heart’s pumping action while surgeons work on the heart.

Sheba’s team has pioneered a distinctive, minimally invasive approach for specific congenital heart defects. With this method, our surgeons make a cosmetic incision below the breast, ensuring no visible scars in the future. Regardless of the method, the goal is to restore normal heart function and improve the patient’s quality of life.


While surgeries and procedures can rectify structural anomalies in the heart, medications play an essential role in managing symptoms and preventing complications in patients with congenital heart disease.

These drugs can regulate heart rhythms, lower blood pressure, reduce fluid accumulation, and prevent blood clots. For instance, diuretics can help eliminate excess fluid from the body, aiding patients with heart failure. Beta-blockers and ACE inhibitors can improve heart function and alleviate symptoms.

Additionally, anticoagulants might be prescribed to prevent blood clots, especially in conditions where blood flow is abnormal.

CHD Complications

Congenital heart disease can have long-term implications on overall health, potentially leading to various complications even after the initial treatment of the defect. Individuals with congenital heart disease may experience the following complications:

  • Arrhythmia: Arrhythmias refer to irregular heart rhythms, which can be a complication arising from congenital heart disease. The heart’s electrical system, which coordinates heartbeats, can be affected by structural heart defects. This might lead to abnormally fast, slow, or irregular rhythms, which can impair the heart’s ability to effectively pump blood to the body. Symptoms can range from palpitations and dizziness to more severe manifestations.
  • Blood Clots: Congenital heart defects may lead to stagnation or turbulent flow of blood, increasing the risk of clot formation. These clots can obstruct blood vessels, affecting oxygen and nutrient delivery to vital organs, and can lead to serious conditions.
  • Developmental Problems: Children with congenital heart disease often face developmental challenges. The reduced oxygen supply to the brain can result in developmental delays, learning disabilities, or issues with physical development. Early intervention, specialized care, and therapies can help address and mitigate some of these challenges.
  • Endocarditis: Endocarditis is an infection of the heart’s inner lining or valves. Those with congenital heart disease have an elevated risk due to altered blood flow or structural abnormalities. Bacteria entering the bloodstream, even from routine activities like brushing teeth, can attach to damaged heart areas, leading to infection. Prompt treatment is vital to prevent complications.
  • Heart Failure: Heart failure in individuals with congenital heart disease arises when the heart’s compromised structure and function prevent it from effectively pumping blood. Over time, the heart struggles to meet the body’s needs, leading to symptoms like fatigue, breathlessness, and fluid retention.
  • Pregnancy Complications: Women with congenital heart disease may face increased risks during pregnancy, both for themselves and their babies. The added stress on the heart during pregnancy can make underlying heart issues even worse.
  • Pulmonary Hypertension: This condition is characterized by high blood pressure in the arteries supplying the lungs. Congenital heart defects can cause increased blood flow to the lungs, leading to damage and pulmonary hypertension. Over time, this can strain the heart, causing right heart failure.
  • Stroke: Individuals with congenital heart disease are at an elevated risk for strokes. This can occur when a blood clot or a piece of plaque breaks loose, traveling to the brain’s arteries and blocking blood flow. Given the altered blood flow patterns in congenital heart disease, the likelihood of clot formation and subsequent stroke increases.
  • Sudden Cardiac Death: Though rare, congenital heart disease can increase the risk of sudden cardiac death—a sudden, unexpected fatality resulting from heart function loss. Structural heart abnormalities and arrhythmias are potential culprits, emphasizing the need for regular monitoring and timely interventions.
  • It is important for individuals with congenital heart disease to be aware of these potential complications and to receive regular medical care and monitoring to manage their condition effectively.

CHD Prevention and Self-Care

While the exact causes of CHD are often unknown, certain measures during pregnancy can reduce the risk.

Expectant mothers should avoid alcohol, illicit drugs, and certain medications, maintain a balanced diet, control chronic conditions like diabetes, and get vaccinated against rubella.

Regular prenatal care helps identify potential issues early. Post-diagnosis, self-care for CHD patients includes regular medical check-ups to monitor heart health and catch complications early.

It’s vital to maintain a heart-healthy lifestyle — a balanced diet, maintaining a reasonable body weight, regular exercise within limits set by the doctor, checking your cholesterol level regularly, and avoiding smoking. Proper dental hygiene can prevent infections that might affect the heart.

Emotional wellbeing, achieved through support groups or counseling, is also essential, as living with CHD can be mentally challenging. Lastly, always stay informed about your specific condition, and when in doubt, seek medical advice.

Congenital Heart Disease Treatment in Israel: Meet Our Doctors

David Mishaly
David Mishaly, MD
Director of the Department of Pediatric & Congenital Cardiothoracic Surgery
Dr. Mishaly, an experienced cardiothoracic surgeon, invented a revolutionary minimally invasive surgical technique that is used to treat congenital heart defects in children. At present, he is the only doctor in the world who performs this unique surgery. The cutting-edge procedure has a 99% healing rate and 100% patient satisfaction with regards to aesthetics. Dr. Mishaly has published many notable articles and book chapters on cardiac surgery in medical literature.
Read More
Alain Serraf
Alain Serraf, MD
Chairman of the The Edmond J. Safra International Congenital Heart Center
Prof. Serraf is a world-renowned specialist in congenital heart diseases. As a leading expert in cardiac surgery and pediatric cardiac surgery, he has authored over 50 scholarly articles. He graduated from the Medical School Paris XII, and is a visiting professor in several international universities.
Read More

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