Last updated on May 2020

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

Brief description of study

  • Researchers are interested in studying individuals who have known or suspected metabolic or genetic diseases that put them at a high risk for heart diseases or diseases of their blood vessels. To improve the results of the study, both affected and nonaffected individuals will be asked to provide blood and other samples and will undergo tests to evaluate heart and lung function. Nonaffected individuals will include relatives of affected individuals and healthy nonrelated volunteers.
  • To study individuals who have or are at risk for cardiovascular diseases, as well as their unaffected relatives and healthy volunteers.
  • Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases.
  • Participants will have some or all of the following tests, as directed by the study
  • Photography of the face and full body
  • Body measurements
  • Radiography, including chest or limb x-rays
  • Metabolic stress testing to study heart and muscle function
  • Echocardiography to study heart function
  • Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance
  • Computed tomography (CT) angiogram to obtain images of the heart and lungs
  • Positron emission tomography (PET) imaging to study possible fat infiltration of the heart
  • Six-minute walk test to study heart, lung, and muscle function and performance
  • Vascular ultrasound to study blood vessel walls
  • Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures.
  • Follow-up studies may be performed under separate research protocols.

Detailed Study Description

We propose to characterize the etiology and natural history of rare and uncommon diseases, both known and unknown that present with symptoms and signs associated with the risk of overt or potential cardiovascular dysfunction. We will also study rare genetic modifiers and identify novel disease mechanisms contributing to common cardiovascular diseases. In so doing, we will expand our knowledge about these disorders and provide access to subjects interest for research, teaching, and clinical experience. Individual subjects seen under this protocol may initiate the establishment of specific disease-related protocols involving intensive natural history studies, disease discovery and potential innovative therapeutic studies. In addition to its role in investigating individuals who are of interest to the Center for Molecular Medicine (CMM) and the Cardiovascular and Pulmonary Branch (CPB) 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 cardiovascular features.

Clinical Study Identifier: NCT01143454

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