Fetal Ebstein Anomaly and Tricuspid Valve Dysplasia Registry

Fetal Ebstein Anomaly and Tricuspid Valve Dysplasia Registry

Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) are rare congenital tricuspid valve malformations that carry among the highest mortality of all congenital heart disease diagnosed in utero. Despite the high mortality associated with severe EA/TVD in the fetus, it has only been studied retrospectively. By prospectively enrolling a cohort across multiple centers, many questions may be answered in the perinatal period and beyond. The registry will allow us to understand perinatal and postnatal decision-making in this complex group of patients across centers.

Given the rarity of the disease, a retrospective arm was added to the original prospective study in May 2024.

Inclusion Criteria:

1. Mothers of fetuses (ages 14-54) diagnosed with EA/TVD of any severity with normal segmental anatomy (AV and VA concordance)

   1. Mothers may be enrolled at any gestational age, up to the day of pregnancy outcome (elective termination of pregnancy, demise, or live-birth)
   2. Singletons, twins or higher order multiples may be included

2. Consent obtained at a participating site

Exclusion Criteria:

1. Mothers of fetuses diagnosed with EA/TVD in the context of abnormal segmental anatomy (AV and/or VA discordance) or other lesions, such as congenitally corrected transposition of the great arteries or pulmonary atresia with intact ventricular septum
2. Unable or unwilling to provide consent