EA: The Diagnosis

EA: How it is Diagnosed?

Ebstein's Anomaly (EA) can be diagnosed by the healthcare provider in the prenatal period, before birth, or in the postnatal period, following birth. The method of diagnosing EA is different in each of these periods. Regardless of what period EA is detected in, it is useful to know the severity in order to plan treatment.

Diagnosis in the Prenatal Period

During the second or third trimester of pregnancy, a health care provider will view the fetus' heart by ultrasound. This will reveal information related to the size, shape and general condition of the baby's heart. If the healthcare provider has concerns, an echocardiogram often with a color doppler to visualize the blood flow will be ordered. Click here to see an echocardiogram with color doppler of a 20 week fetus with EA heart. The right atrium will appear enlarged with the tricuspid valve pushed down into the right ventricle and a great amount of backward blood flow through the tricuspid valve with each heart beat. It is very important to identify EA in the prenatal period because without surgical treatment there is an 85% mortality rate in early infancy. [1]

Diagnosis in the Postnatal Period

The above video shows a Magnetic Resonance Imaging (MRI) view of the heart. This is a useful imaging technique and the technique preferred for diagnosing EA in the postnatal period (childhood and adulthood). An MRI of the heart offers a comprehensive view of the motion of the heart walls, blood flow through the heart, and function of the heart valves. Often an MRI is ordered along with a color doppler echocardiogram following an abnormal ECG. Additional heart stress tests may also be performed. In these tests, the patient exercises and the movement of blood between the right atrium and left atrium through the atrial septal defect increases causing the patient's performance at exercise to decrease due to lack of oxygen to the body. [1]

References
1.  Galea J, Ellul S, Schembri A, et al. Ebstein Anomaly: A Review. Neonat Network.  September 2014: 33(5): 268-274.