Ebstein’s Anomaly in Pediatric Patients

Originally found in 1866, German physician Wilhelm Ebstein performed an autopsy on a 19-year old man that presented cyanosis, palpitations, and dyspnea before passing as a result of a sudden cardiac arrest. After further examination, Ebstein discovered an anomaly within the heart’s right ventricle and tricuspid valve, which was a result of some kind of congenital defect. This anomaly went undetected in medical records until around 60 years later in 1927. Then, around a decade later, Ebstein’s anomaly was finally diagnosed through the use of electrocardiography, in which the congenital heart defects could be visually represented. 

Ebstein’s anomaly is a rare congenital condition that occurs in at least 1 in every 200,000 live births. This means that this anomaly occurs in <1% of all congenital defects. Essentially speaking, this condition entails an irregularity in the tricuspid valve, along with enlargement of the right heart chambers (most commonly the right ventricle), and a PFO/ASD (AKA patent foramen ovale/atrial septal defect which is essentially a partially/fully opened hole between the right and left heart chambers). In a regularly formed heart, three leaflets can be found within its tricuspid valve: anterior, posterior, and septal. However, in Ebstein’s anomaly, the posterior and septal valves are adhered to each other, and the anterior tricuspid valve is tethered and ridden with fenestrations, or small holes. In addition to the fenestrations of the tricuspid valve and the Patent Foramen Ovale/Atrial Septal Defects that are commonly seen in patients presenting with Ebstein’s Anomaly, the right ventricle malfunctions. Rather than sending oxygen-poor blood to the lungs, the RV atrializes, creating a backflow of blood within the heart. This backflow of blood is commonly known as tricuspid regurgitation, which can result in enlargement of the right heart chambers, and in more severe cases in which the RV atrializes completely, blood flow to the lungs can decrease drastically. The severity in symptoms  of this condition can range drastically from mild to severe. Since this condition is congenital, symptoms can appear as soon as birth has occurred. In infants, cyanosis is most common due to lack of oxygen in the bloodstream. If the case is more severe, the infant may have trouble being able to breathe regularly, as well as difficulty with eating. As the condition progresses into childhood, common symptoms include constant coughing, tachypnea (rapid breathing), slow physical development, and arrhythmias. If the condition increases in severity, children with Ebstein’s anomaly may have decreased staminas, continued cyanosis, fatigue, and even fluid retention which if left untreated can lead to heart failure. Depending on how severe the case of Ebstein’s anomaly is, quality of life within children can still remain comparable to other children without the defect. With proper monitoring, if valve leakage remains minimal and heart rhythms remain normal, children can participate in regular day-to-day activities, such as sports; however, most pediatric cardiologists will recommend avoiding high-intensity sports and activities. Ebstein’s anomaly is entirely treatable with non-invasive procedures like medication, or on the contrary, through surgical repair of the heart. Medications include diuretics to release excess fluid, antiarrhythmics that regulate heart rhythms, anticoagulants to prevent blood clotting, and even inhaled nitric oxide for infants to increase blood oxygen levels. There are many surgical procedures that can be done in order to treat Ebstein’s Anomaly. For example, a tricuspid valve repair or replacement can be performed to alleviate the backflow of blood within the heart, and atrialization of the right ventricle. In cases where an ASD is present, a surgery can be done in order to close the hole that is present between the upper chambers of the heart. 

Sources:

1. American Heart Association. (2019). Ebstein’s Anomaly. Www.heart.org. https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/ebsteins-anomaly

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3. Mayo Clinic. (2024). Ebstein anomaly - Diagnosis and treatment - Mayo Clinic. Mayoclinic.org. https://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/diagnosis-treatment/drc-20352132#:~:text=Get%20regular%20health%20checkups.

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