Vascular DiseaseVascular Disease Discovery Protocol

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