Study to Understand Rare and Uncommon Cardiovascular Diseases and Genetic Conditions Including Healthy Volunteers

What this Trial Is About

Researchers are studying individuals with known or suspected metabolic, inflammatory, or genetic diseases that may increase the risk of heart and blood vessel diseases. This includes affected individuals, their unaffected relatives, and healthy volunteers. The study aims to better understand rare and uncommon cardiovascular diseases, their causes, and natural history, as well as genetic factors that may influence these conditions. The research is conducted by the National Heart, Lung, and Blood Institute and includes participants aged 1 to 100 years. Participants may undergo a variety of tests tailored to their specific condition, including photography of the face and body, body measurements, chest or limb x-rays, metabolic stress tests, echocardiography, cardiovascular MRI and angiography, CT angiograms, PET imaging, six-minute walk tests, and vascular ultrasounds. Blood, tissue, and other samples may be collected either during the study or surgical procedures for research purposes. Different groups include individuals with cardiovascular-related pathologies, children affected or related to affected individuals, and healthy adult volunteers. During the study, participants will have assessments of heart, lung, and muscle function and provide specimens for ongoing disease diagnosis and genetic counseling. Questionnaires and evaluations will help researchers understand disease mechanisms and progression. Some follow-up studies may occur under separate research protocols. Participation involves various imaging, laboratory tests, and clinical evaluations to gather detailed information about cardiovascular health and related disorders.

Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With the Cardiovascular System