Fetal Ebstein Anomaly and Tricuspid Valve Dysplasia Registry (FEAT 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.

Study Overview

• Status: Recruiting
• Conditions: Ebstein Anomaly; Tricuspid Valve Dysplasia
• Intervention / Treatment: Other: Observation

• Study Type: Observational
• Enrollment (Estimated): 1500

Contacts and Locations

• Study Contact: Name: Lindsay Freud, MD; Phone Number: 416-813-7500; Email: lindsay.freud@sickkids.ca
• Study Contact Backup: Name: Diana Balmer-Minnes, BSc; Phone Number: 228624 416-813-7654; Email: diana.balmer-minnes@sickkids.ca

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G1X8
      • Recruiting
      • The Hospital for Sick Children
      • Contact: Diana Balmer-Minnes; Phone Number: 228624 4168137654; Email: diana.balmer-minnes@sickkids.ca
      • Principal Investigator: Lindsay Freud, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Fetuses diagnosed with EA/TVD of any severity with normal segmental anatomy (AV and VA concordance)

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with Fetal Ebstein's Anomaly or Tricuspid Valve Dysplasia; Patients will be followed for life-long outcomes.	Other: Observation; Patients will be followed by the registry for life-long outcomes.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Proportion of fetuses who survive to live-birth at term	37 0/7 to 40 0/7 weeks gestation
Proportion of live-born children who survive to 30 days	0-30 days
Freedom from death beyond the neonatal period	30 days-30 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Change in umbilical artery pulsatility index throughout gestation	20 0/7 to 40 0/7 weeks gestation
Proportion with hydrops throughout gestation	20 0/7 to 40 0/7 weeks
Average gestational age at birth	At birth
Average birth weight	At birth
Proportion who undergo neonatal cardiac surgery	0-30 days
Freedom from cardiac re-intervention	30 days-30 years
Freedom from cardiac arrhythmia	30 days-30 years
Infant neurodevelopment as assessed by Bayley Scales of Infant Development	12-15 months
Pediatric neurodevelopment as assessed by Adaptive Behavior Assessment System	3-18 years
Quality of life as assessed by Peds QL General and Cardiac Modules	2-30 years

Collaborators and Investigators

• Sponsor: The Hospital for Sick Children

Study record dates

Study Major Dates

• Study Start (Actual): September 22, 2021
• Primary Completion (Estimated): September 1, 2050
• Study Completion (Estimated): September 1, 2055

Study Registration Dates

• First Submitted: January 6, 2022
• First Submitted That Met QC Criteria: January 25, 2022
• First Posted (Actual): February 4, 2022

Study Record Updates

• Last Update Posted (Actual): May 31, 2025
• Last Update Submitted That Met QC Criteria: May 27, 2025
• Last Verified: May 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Heart Diseases; Cardiovascular Abnormalities; Heart Defects, Congenital; Congenital Abnormalities; Ebstein Anomaly
• Other Study ID Numbers: 1000076991

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No