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Spontaneous coronary artery dissection (SCAD) is a rare cause of coronary ischemia and infarction where a tear in blood vessel wall either restricts the flow of blood or the blood becomes trapped in between the layers of the vessel causing the vessel to impinge on the lumen and causing an obstruction or restriction of blood flow. The ultimate goal of this proposal is to further understand the risk factors leading to SCAD with a focus on familial and genetic causes of SCAD.
For this study, we will ascertain clinical data and biological samples from a cohort of SCAD patients identified using retrospective review of medical records and prospective surveillance of Intermountain patients that undergo coronary angiography. The SCAD diagnosis will be based on independent review of clinical presentation, cardiac imaging, and angiography findings by two cardiologists and a third cardiologist in case of disagreement. It is anticipated that we hope to recruit 100 SCAD patients.
Enrollment of these subjects will be done under the INSPIRE registry. The subjects will be asked to sign a consent, provide biological samples, and complete questionnaires related to SCAD as part of the INSPIRE registry.
The SCAD cases will be matched to records in the Intermountain Genealogy Registry (IGR) to allow for the identification of possible high-risk SCAD families. Risk of first and second degree relatives will also be assessed. The obtained blood samples will be processed, stored and genotyped.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Spontaneous Coronary Artery Disection | The spontaneous coronary artery disection (SCAD) diagnosis will be based on independent review of clinical presentation, cardiac imaging, and angiography findings by three cardiologists. The determination will be evidence of linear luminal defect (intimal flap) detection, luminal narrowing or occlusion confirmed to be a dissection on further imaging, or by clinical judgment classifying it as definite SCAD. | ||
| Control | A set of controls will be used for genetic analysis. These controls will pulled from subjects in the INSPIRE registry that had coronary angiography at Intermountain Medical Center for stable angina and meet inclusion/exclusion criteria. |
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| Measure | Description | Time Frame |
|---|---|---|
| Genetic variants | To determine genetic variants among spontaneous coronary artery dissection (SCAD) patients, we will do genotyping including target sequencing and whole exome/genome sequencing on samples provided by SCAD patients. The primary focus of this sequencing will be to determine rates of variants in genes that cause cardiac-related connective tissue disorders. | at enrollment |
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Inclusion Criteria:
SCAD Cases
Controls
Exclusion Criteria:
SCAD Cases
Controls
Subjects that have a heart transplant.
Subjects that have a bone marrow transplant.
Subjects with any of the following diagnosis at anytime
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The study population will be Intermountain Healthcare patients. The case subjects will be SCAD patients and the control population for the genetics will be Intermountain angiography patients without SCAD.
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| ID | Term |
|---|---|
| C565153 | Coronary Artery Dissection, Spontaneous |
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saliva, buccal swab, or blood sample kit