The purpose of this study is to discover and identify the genes, and thereby the cellular and molecular pathways, involved in Arterial Dysplasia. We are investigating how these changes relate to cardiovascular diseases such as hypertension, stroke, heart attacks and more. By understanding the genetic mechanisms of rare vascular diseases, we aim to gain knowledge that is needed to develop therapies. The study includes conditions such as fibromuscular dysplasia, arterial aneurysms, and arterial dissections. These include the renal artery, coronary artery, carotid artery, and others, leading to hypertension, stroke, heart attack and other presentations.
Any adult or child who has been diagnosed with an Arterial Dysplasia (abnormal cell growth or arterial shape) is potentially eligible for this study. Family members of affected individuals are also eligible for participation in the study.
Once enrolled in the study, we will collect blood and/or saliva samples (a blood sample is preferred) for genetic testing. Appropriately 4 teaspoons of blood or 2 teaspoons of saliva are collected. Along with this, you will be asked to complete two surveys. One inquires about personal health history, and the other asks about family health history. We also ask permission to review medical records. This allows us access to any testing or doctor’s evaluations related to your diagnosis.