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Ebstein anomaly is a rare congenital heart condition characterized by a defect in the formation of the tricuspid valve, the valve that separates the upper and lower chambers of the right side of the heart. In this condition, the tricuspid valve doesn’t function properly, leading to improper closure and allowing blood to flow backward from the lower chamber to the upper chamber of the heart which makes difficulties for the heart to work.
Individuals with Ebstein anomaly may experience heart enlargement, which can ultimately lead to heart failure. The treatment approach for this condition varies based on the presence and severity of symptoms. Some patients may remain asymptomatic and only require regular medical check-ups, while others may need a combination of medications and surgical interventions.
Symptoms
Some newborns with Ebstein anomaly show little to no symptoms at all. Some suffer with a tricuspid valve that leaks badly, leading to more obvious issues. Sometimes symptoms take longer to manifest in later life.
A few possible signs and symptoms of the Ebstein anomaly are:
- Gray or blue fingernails or lips. These color changes could be more or less noticeable depending on the hue of the skin.
- Sensation of a pulsating or fast heartbeat, or irregular heartbeats.
- Fatigue.
- Swelling (edema) in the abdomen, legs, or area around the eyes.
- Breathlessness, particularly when exerted.
- Gradual weight gain.
A newborn with serious cardiac issues is frequently identified at birth or during regular prenatal visits.
Schedule a medical visit if you or your child exhibit signs or symptoms of heart issues. These symptoms include blue or gray skin, irregular heartbeats, and feeling easily exhausted or out of breath with little activity. A cardiologist—a doctor with expertise in cardiac diseases may be recommended to you.
Causes
Ebstein anomaly is a congenital heart condition that individuals are born with, and its exact cause remains unclear. To gain a deeper understanding of this condition, it can be beneficial to explore the normal functioning of the heart.
Functions of the heart
There are four chambers in a normal heart.
- The atria are the names for the two upper chambers.
- The two lower chambers are referred to as the ventricles; they receive and circulate blood.
To allow blood to pass through the heart in a single path, four valves open and close. There are two or three robust, thin tissue flaps on each valve. The flaps are referred to as cusps or leaflets.
- When a valve is closed, blood cannot pass through to the following chamber.
- Blood cannot return to the preceding chamber due to a closed valve.
The tricuspid valve is located between the two right heart chambers in a normal heart. The tricuspid valve in the right lower heart chamber is positioned lower than usual in an Ebstein anomaly. Additionally, the flaps of the tricuspid valve change in form. Blood may start to flow backward into the right upper chamber of the heart as a result. This medical condition known as tricuspid valve regurgitation occurs when this occurs.
Heart conditions linked to the Ebstein anomaly
Infants with the Ebstein anomaly may also experience additional cardiac issues, such as:
- Arrhythmias. Heart arrhythmias can manifest as sensations akin to fluttering, pounding, or racing heartbeats. Altered heart rhythms can impede the heart’s optimal function.
- Holes in the heart. Blood oxygen levels can be lowered by a hole in the heart. There is often a hole between the heart’s two upper chambers in infants with Ebstein anomaly. We refer to this opening as an atrial septal defect. Alternatively, a Patent Foramen Ovale (PFO) may be present. All babies are born with a PFO, which is a hole between the upper heart chambers that typically closes after birth. In certain individuals, it may stay open.
- Wolff-Parkinson-White (WPW) syndrome. This disorder is characterized by a fast heartbeat and fainting due to an additional signaling pathway between the upper and lower chambers of the heart.
Risk factors
An Ebstein anomaly can occur during fetal development while the mother is pregnant. The baby’s heart begins to form and beat within the first six weeks of pregnancy, during which time the major blood vessels that run to and from the heart also start to develop.
At this stage of a baby’s growth, congenital heart issues might start to develop. Researchers are still working to pinpoint the exact factors that increase the likelihood of a baby having an Ebstein anomaly. It is believed that a combination of genetic and environmental factors may be involved. For instance, the use of certain medications, like lithium, during pregnancy has been suggested as a potential risk factor for the development of an Ebstein anomaly in the baby.
Diagnosis
The physician conducts a physical examination, which includes listening to the patient’s heart and lungs. In cases of an Ebstein anomaly, a doctor may detect a murmur, which is an abnormal heart sound. Additionally, children with severe Ebstein anomaly may exhibit bluish or grayish skin coloration due to reduced blood oxygen levels.
Tests
Tests used to assist in the diagnosis of the Ebstein anomaly include:
- Pulse oximetry. A sensor that is affixed to a finger or toe measures the blood’s oxygen content in this test.
- Chest X-ray. An X-ray of the chest can show blood vessels, the heart, and the lungs. If the heart is enlarged, it can be seen.
- Electrocardiogram (ECG or EKG). This easy test monitors heartbeat. Attached to the chest, and occasionally the arms and legs, are sticky patches. The patches are wired to a computer so that it may print or show the results.
- Holter monitor. You can wear this portable ECG gadget for up to a day to monitor the heart’s activity while you go about your everyday business.
- Echocardiogram. Pictures of the beating heart are produced by the use of sound waves. The flow of blood via the heart and heart valves can be seen on an echocardiography.
- CardiacMagnetic Resonance Imaging (MRI). A cardiac MRI produces detailed pictures of the heart using radio waves and magnetic fields. This examination can provide a thorough look at the tricuspid valve. It also displays the dimensions and functionality of the heart chambers.
- Exercise stress tests. Frequently, these examinations entail using a stationary bike or treadmill while the heart is monitored. The heart’s response to activity can be seen via an exercise stress test.
- Electrophysiology study (EP). In order to do this test, the doctor inserts a thin, flexible catheter into a blood vessel and directs it toward the heart. One may utilize many catheters. The catheter’s tip has sensors that transmit electrical impulses and monitor the heart’s electrical activity. This test aids in identifying the area of the heart that is producing an irregular or rapid heartbeat. This test may be used to treat an irregular heartbeat.
- Cardiac catheterization. Your doctor will be able to take measurements of oxygen and pressure in various cardiac chambers during the exam. A catheter is a long, thin, flexible tube that is placed into a blood vessel, typically in the wrist or groin, and is directed toward the heart. The catheter allows dye to enter the heart’s arteries. The dye enhances the visibility of the arteries in film and X-ray images. This test can also be used to provide certain heart disease treatments.
Treatment
The treatment approach for the Ebstein anomaly is determined by the severity of the heart condition and the presence of symptoms. Treatment options may encompass regular check-ups, medication, surgical interventions, or specific procedures. The primary goals of treatment are to alleviate symptoms and prevent potential complications, such as heart failure and irregular heartbeats.
Routine medical examination
A doctor might advise routine examinations if the Ebstein anomaly isn’t producing any symptoms, such as irregular heartbeats.
Typically, follow-up visits are made at least annually. A physical examination and cardiac imaging studies are typically included of the checkup.
Medications
You might be prescribed medication if you have an Ebstein anomaly.
- Manage irregular heartbeats or other heart rhythm abnormalities.
- Prevent the body from accumulating fluid. Heart failure may be indicated by an excess of fluid in the body.
- Prevent blood clots, which could happen in the event of an Ebsteinanomaly with a hole in the heart.
Additionally, some babies receive inhaled nitric oxide to help enhance lung blood flow.
Surgery or other procedures
If the Ebstein anomaly results in severe tricuspid regurgitation, heart failure, or increased difficulties exercising, surgery is usually advised.
If additional symptoms, including some irregular heartbeats, are severe or negatively impact quality of life, surgery might also be advised.
If surgery is required, it is crucial to select a surgeon experienced in treating Ebstein anomaly. The surgeon should be qualified and experienced in carrying out the necessary procedures to fix the issue.
In order to treat the Ebstein anomaly and associated cardiac issues, surgery may involve:
- Closure of the atrial septal defect. The purpose of this surgery is to seal a hole that exists between the heart’s upper chambers. During this surgical procedure, it is possible to address and rectify other cardiac issues as well.
- Tricuspid valve repair. A faulty tricuspid valve is repaired during this open cardiac surgery. The surgeon may remove excess tissue surrounding the valve opening or repair holes or tears in the valve flaps. There may be more repairs made.
One such method of valve repair is the cone procedure. The tissue that should have formed the tricuspid valve is separated from the heart muscle by the cardiac surgeon. Next, a functional tricuspid valve is created using the tissue.
The valve may occasionally require additional repairs or replacement in the future. - Tricuspid valve replacement. Surgery to replace the valve can be required if it cannot be fixed. Both minimally invasive and open heart surgery can be used to replace a tricuspid valve. A valve consisting of cow, pig, or human heart tissue is used in place of the damaged or diseased valve that the physician removes during surgery. We refer to this as a biologic valve. It is rare to replace tricuspid valves with mechanical valves.
- Maze procedure. This technique may be carried out during valve replacement or repair surgery if the Ebstein anomaly is the source of irregular heartbeats. To build a pattern or maze of scar tissue, the surgeon creates tiny incisions in the heart’s upper chambers. The scars can also be produced by using heat or cold energy. Scar tissue is non-conductive for electrical signals. Thus, the maze prevents irregular heart rhythms.
- Radiofrequency catheter ablation. Fast or irregular heartbeats are addressed with this medical intervention. The physician inserts one or more catheters, slender and flexible tubes, into a blood vessel, usually in the groin area. These catheters are then navigated by the doctor to reach the heart. Sensors located at the catheter tips employ radiofrequency energy, in the form of heat, to cause little tissue damage to the heart tissue. Scarring results from this, and the heart signals that produce irregular heartbeats are blocked.
- Heart transplant. A heart transplant may be necessary if a significant Ebstein anomaly is the reason for the heart failure.
