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A repository of biospecimens and detailed phenotypic information collected longitudinally from adults with congenital heart disease and related conditions, with an aim to facilitate future research on biologic mechanisms of underlying disease, compensation and deterioration; biologic correlates of patient experience and functional status; associations between clinical characteristics and various biomarkers; and predictors of clinical outcomes.
The goals of this protocol are to collect, maintain, and manage tissue specimens of various types for adults with congenital heart disease, adults with related disorders, and a set of control participants. Ultimately, we plan to approach all clinical encounters for adults (≥16 years-old) in the Heart Institute (HI) - and, in the future with additional review, the cardiology departments of additional participating sites.
We will collect extensive data on all enrolled participants, and also collect information directly from participants (e.g., via surveys about symptoms and lifestyle, patient-reported outcome metrics) at baseline and on an ongoing basis (e.g. sequential outpatient visits and procedure encounters).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| No treatment |
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| Measure | Description | Time Frame |
|---|---|---|
| Successful establishment of biospecimen repository | Defined as the number and type of biospecimens collected and successfully linked with corresponding clinical and phenotypic data. | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Longitudinal biospecimen availability | Number of participants with repeated biospecimen collections across multiple timepoints. | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Event-based biospecimen collection completeness | Availability of biospecimens collected before, during, and after defined clinical interventions (e.g., surgery, exercise testing). | Day 1 |
| Data completeness of linked clinical phenotypes |
Inclusion Criteria:
Any person ≥ 16 years-old suspected of having or diagnosed with congenital heart disease (CHD), other cardiovascular disease (CVD), pulmonary hypertension, connective tissue disease, or genetic syndrome/diagnosis.
Additionally, a cohort (Control group A) of control subjects will be enrolled, again ≥16 years-old, self-reported non-smokers without a known history of diabetes mellitus, myocardial infarction, stroke, heart failure, or chronic kidney disease. These controls will be either:
A cohort (Control group B) of comparison subjects who do not have CHD, but have a diagnosis of heart failure or pulmonary hypertension.
Exclusion Criteria:
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Participants will include individuals aged 16 years or older who are suspected of having or diagnosed with congenital heart disease (CHD), other cardiovascular disease, pulmonary hypertension, connective tissue disease, or a genetic condition; healthy volunteers, and comparison participants without CHD but with a diagnosis of heart failure or pulmonary hypertension.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Sasha Opotowsky, MD | Contact | 513-803-2243 | sasha.opotowsky@cchmc.org | |
| Lindsay Fist | Contact | lindsay.fist@cchmc.org |
| Name | Affiliation | Role |
|---|---|---|
| Sasha Opotowsky | Children's Hospital Medical Center, Cincinnati | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Medical Center, Cincinnati | Recruiting | Cincinnati | Ohio | 45229 | United States |
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| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D006976 | Hypertension, Pulmonary |
| D003240 | Connective Tissue Diseases |
| ID | Term |
|---|---|
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
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Tissue ascertainment will include but is not limited to the collection of whole blood, saliva, and/or urine, obtained during a clinical encounter or another scheduled appointment as discussed above.
Proportion of participants with complete longitudinal clinical, demographic, and phenotypic datasets suitable for research.
| Day 1 |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008171 | Lung Diseases |
| D012140 | Respiratory Tract Diseases |
| D006973 | Hypertension |
| D014652 | Vascular Diseases |
| D017437 | Skin and Connective Tissue Diseases |