Ebstein Anomaly, Tricuspid Valve Dysplasia
Conditions
Brief summary
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.
Interventions
OTHERObservation
Patients will be followed by the registry for life-long outcomes.
Sponsors
The Hospital for Sick Children
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| 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
| Measure | Time frame |
|---|---|
| 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 |
| Freedom from cardiac arrhythmia | 30 days-30 years |
| Freedom from cardiac re-intervention | 30 days-30 years |
| 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 |
| Proportion who undergo neonatal cardiac surgery | 0-30 days |
| Infant neurodevelopment as assessed by Bayley Scales of Infant Development | 12-15 months |
| Change in umbilical artery pulsatility index throughout gestation | 20 0/7 to 40 0/7 weeks gestation |
Countries
Canada
Contacts
Primary ContactLindsay Freud, MD
Backup ContactDiana Balmer-Minnes, BSc
Outcome results
None listed