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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Fetal Ebstein's Anomaly or Tricuspid Valve Dysplasia | Patients will be followed for life-long outcomes. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observation | Other | Patients will be followed by the registry for life-long outcomes. |
|
| Measure | Description | 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 |
| Measure | Description | 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 | |
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Inclusion Criteria:
Mothers of fetuses (ages 14-54) diagnosed with EA/TVD of any severity with normal segmental anatomy (AV and VA concordance)
Consent obtained at a participating site
Exclusion Criteria:
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Fetuses diagnosed with EA/TVD of any severity with normal segmental anatomy (AV and VA concordance)
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lindsay Freud, MD | Contact | 416-813-7500 | lindsay.freud@sickkids.ca | |
| Diana Balmer-Minnes, BSc | Contact | 416-813-7654 | 228624 | diana.balmer-minnes@sickkids.ca |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Hospital for Sick Children | Recruiting | Toronto | Ontario | M5G1X8 | Canada |
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| ID | Term |
|---|---|
| D004437 | Ebstein Anomaly |
| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
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| ID | Term |
|---|---|
| D019370 | Observation |
| ID | Term |
|---|---|
| D008722 | Methods |
| D008919 | Investigative Techniques |
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| 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 |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |