vascular disease discovery protocol

Conditions: Vascular Dysfunction; Genetic Mutations; Genetic Predisposition

Summary: background: some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the u.s. researchers want to study diseases of the heart and/or blood vessels. they want to collect data and specimens from affected people, their family members, and healthy people. objective: to study diseases of the heart and/or blood vessels. eligibility: people age 2 and older who may have genetic disease affecting the heart and/or blood vessels their relatives healthy volunteers design: participants will be screened with a medical history, physical exams, and imaging tests. participants may have a few visits or visits for 2 weeks or more. this will depend on their age and disease status. visits may include: photographs of the face and body heart tests samples taken of blood, urine, saliva, skin, and/or tissue scans. for some, a dye may be injected into a vein. a six-minute walk test lung tests. for some, participants will blow into a tube. for others, they will breathe in a gas from a mask, have a small injection, then have a scan. stress tests while walking on a treadmill or riding a stationary bike ultrasound of veins and arteries devices outside the body testing the stiffness and function of arteries eye exam and eye tests. for some, a dye may be injected in a vein. blood pressure tests measurements of blood flow under the skin and in the arms and fingernail blood vessels devices outside the body testing flexibility of the blood vessels and skin, and skin temperature

the nih provides a unique opportunity for research scientists to participate in the bench-to-bedside process, which is essential for the full implementation of translational medicine programs. the study of rare monogenetic and undiagnosed diseases is a complex bedside-to-bench-to-bedside endeavor. recent studies show that rare genetic variants are more likely than common variants to have deleterious effects on protein structure, function, and/or expression, possibly leading to clinically relevant events. studies of large patient populations offer the opportunity to identify rare genetic variants underlying human disease and will have impactful implications for human health. we propose to characterize the etiology and natural history of rare and orphan diseases with vascular phenotypes. we will also study rare genetic modifiers and identify novel disease mechanisms contributing to common vascular diseases. subsequent disease-related protocols may be developed based on findings from subjects enrolled in this protocol for further intensive natural history studies and potential innovative therapeutic studies. in addition to its role in investigating individuals who are of interest to the translational vascular medicine branch (tvmb) of the nhlbi, this protocol can provide a possible avenue for admitting subjects from other nih programs, such as the nih undiagnosed diseases program, the center for human immunology trans-institute program or other nih protocols where subjects exhibit vascular phenotypes.

Eligibility criteria:
* inclusion criteria: * all subjects must be between the ages of 2-100 years old. * affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study. * unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery. exclusion criteria: * healthy volunteers unable to give informed consent * healthy volunteers who decline to have blood drawn and/or tissue studies or who do not consent to have samples stored for future research. * cognitively impaired individuals who are not affected. * cognitively impaired individuals not related to affected subjects.

Keywords: etiology of rare and orphan diseases with vascular phenotype natural history of rare and orphan diseases with vascular phenotype pathophysiology of uncommon vascular diseases undiagnosed diseases rare human diseases with vascular features natural history