How Does Ebstein’s Anomaly Present?

Uncategorized

Patient Presentation
A 9-month-old male came to clinic for his health supervision visit. He was growing and developing well. When reviewing the family history his mother became tearful. “I wanted to tell you that my niece died about a month ago. She was my sister’s second baby and died at only 2 days old. They said she had a heart problem where her heart valve was stuck down into the lower part of her heart. They tried but there wasn’t much they could do. I’m worried that he might have the same thing,” she explained.

The pertinent physical exam for the infant showed normal growth at the 50-75% and normal development. There was no evidence of cyanosis or congestive heart disease and he had a normal heart exam.

The diagnosis of a healthy infant was made and his mother was reassured that he was growing and developing normally. After expressing his sympathy, the pediatrician and mother discussed the problem further, and he said, “The problem could be many things but this could be Ebstein’s anomaly or some similar heart problem. I think you should find out more, especially if they are recommending additional testing for family members. It’s really hard right now, but this is the best time to actually find out the diagnosis so we can know for your whole family in the future.”

Discussion
Ebstein’s anomaly (EA) accounts for about 0.3-0.5% of all congenital heart disease and about 40% of all tricuspid valve (TV) pathologies. It was first described by Dr. William Ebstein in 1866.

In EA’s simplest form, the TV is displaced inferiorly from the normal hinge points into the right ventricle (RV). This is caused by delamination of both the septal and mural leaflets and they usually form a combined leaflet which can be more adherent to the RV. These anatomical changes causes poor movement of the leaflet(s) and tricuspid regurgitation. Displacement inferiorly can cause decreased RV capacity and RV outflow obstruction. Displacement also causes part of the RV to be incorporated into the right atrium (RA) which itself can cause functional RV hypoplasia.

It’s not surprising that numerous other problems result because of these anatomical changes. These include atrial septal defects (with right-to-left shunting and cyanosis), RV fibrosis, pulmonary atresia or stenosis, Tetralogy of Fallot and transposition of the great vessels. The heart’s left side is also affected including left ventricle (LV) and mitral valve (MV) problems. Arrhythmias are not uncommon with both atrial, ventricular and accessory pathway tachycardias. Atrial tachycardias are quite common in unoperated older patients. Tachycardias themselves exacerbate the problem. For example, supraventricular tachycardia decreases the RV filling time, decreases RV outflow, and increases RA pressure. In a neonate, increased RA pressure can increase shunting across an atrial septal defect further increasing cyanosis. EA can be associated with decreased lung development and volume as well.

Learning Point
EA is usually sporadic but there are some familial cases. It can present in fetal to adult life depending on how severe it is. EA can be detected in utero with ultrasound. Severe hemodynamic problems can cause in-utero demise (up to ~27%) or neonatal mortality. Neonatal or early infants are usually detected because of cyanosis, congestive heart failure or on pulse oximeter screening for congenital heart disease at 24 hours of life. Patent ductus arteriosus closure can improve or worsen the neonate’s condition depending on the anatomy. Mortality is ~18% in the neonatal period. Children often present with a previously undetected murmur and older children and adults present with palpitations and/or arrhythmias. Reduced exercise tolerance and/or cyanosis can be observed. Incidental cardiomegaly findings on chest radiograph also happens. Overall about 30% of patients die before age 10 years with a median mortality of age 20 years. Obviously many patients can remain asymptomatic for years.

Treatment differs depending on the anatomy, age and symptoms. Medical treatment and support, ablation for arrhythmias, and cardiovascular surgery are the options. Surgical indications include a critically ill neonate, severe or progressive functional deterioration, recurrent or intractable arrhythmias, and emboli.

Questions for Further Discussion
1. What are the five “T’s” of cyanotic congenital heart disease? A review can be found here.
2. What are common acyanotic congenital heart diseases? A review can be found here.
3. What are common heart leaflet problems and how do they present?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for these topics: Congenital Heart Defects and Heart Valve Diseases.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

To view videos related to this topic check YouTube Videos.

Kumar TKS, Boston US, Knott-Craig CJ. Neonatal Ebstein Anomaly. Semin Thorac Cardiovasc Surg. 2017;29(3):331-337. doi:10.1053/j.semtcvs.2017.09.006

Walsh EP. Ebstein’s Anomaly of the Tricuspid Valve: A Natural Laboratory for Re-Entrant Tachycardias. JACC Clin Electrophysiol. 2018;4(10):1271-1288. doi:10.1016/j.jacep.2018.05.024

Ramcharan TKW, Goff DA, Greenleaf CE, Shebani SO, Salazar JD, Corno AF. Ebstein’s Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care. Pediatr Cardiol. 2022;43(7):1409-1428. doi:10.1007/s00246-022-02908-x

Author
Donna M. D’Alessandro, MD
Professor of Pediatrics, University of Iowa

Published