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| ID | Type | Description | Link |
|---|---|---|---|
| 5U01HL131003-02 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Heart, Lung, and Blood Institute (NHLBI) | NIH |
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Approximately 400 Congenital heart disease patients will participate in the research study which will include one or more research visits for neurodevelopmental testing, brain MRI, and collection of medical history including previously collected genetic sequencing results. The investigators will explore the association between genetic variants, neurodevelopmental deficits, and brain MRI endophenotype. Analyses will compare groups with and without deleterious de novo mutations.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Case/CHD with deleterious mutations | Participants with CHD with damaging de novo mutations or stringently defined deleterious missense mutations) on whole exome sequencing or whole genome sequencing |
| |
| Control/CHD without deleterious mutations | Participants with CHD without damaging de novo mutations or stringently defined deleterious missense mutations) on whole exome sequencing or whole genome sequencing |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Exposure of interest: Brain MRI | Other | Brain MRI will be conducted in all participants |
|
| Measure | Description | Time Frame |
|---|---|---|
| Neurodevelopment and behavioral health assessment | The investigators will compare groups with respect to achievement, IQ, learning disability, specific neuropsychological domains (e.g., memory, attention, executive functions, and visual-spatial/motor integration), adaptive function, behavior, social cognition and symptoms of autism spectrum disorder, and quality of life. The primary study outcome for this aim will be the WRAT4 composite score. | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Abnormalities in brain structure and microstructure on MRI | The investigators will compare the groups with respect to measured and derived parameters including, but not limited to, 1) regional volumetric and cortical thickness, 2) regional surface metrics, 3) voxel-based DTI eigenvectors and apparent diffusion coefficient (ADC) values, and resting state principal component analysis | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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Congenital heart disease patients aged 8 years and older with prior whole exome sequencing or whole genome sequencing results
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| Name | Affiliation | Role |
|---|---|---|
| Jane Newburger, MD | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Los Angeles | Los Angeles | California | 90027 | United States | ||
| University of California, San Francisco |
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| Label | URL |
|---|---|
| Related Info | View source |
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| Exposure of interest: neurodevelopmental assessments | Other | neurodevelopmental testing will be conducted in all participants. |
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| San Francisco |
| California |
| 94158 |
| United States |
| Yale University | New Haven | Connecticut | 06520 | United States |
| Children's Hospital Boston | Boston | Massachusetts | 02115 | United States |
| Icahn School of Medicine at Mt. Sinai | New York | New York | 10029 | United States |
| University of Rochester | Rochester | New York | 14642 | United States |
| Children's Hospital Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| University of Utah | Salt Lake City | Utah | 84113 | United States |
| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| ID | Term |
|---|---|
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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