Ebstein Anomaly

Overview

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.