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

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Jun 11, 2010

Keywords

ClinConnect Summary

This clinical trial is looking to understand how certain uncommon diseases and genetic conditions affect the heart and blood vessels. Researchers want to study individuals who have these conditions, as well as their healthy relatives and volunteers. By gathering information from both affected and non-affected individuals, the goal is to learn more about how these diseases impact cardiovascular health and to improve future treatments.

Anyone aged between 1 and 100 years old can participate, whether they have a cardiovascular disease, are a relative of someone with such a condition, or are a healthy volunteer. Participants can expect to undergo a variety of tests, including heart scans, blood tests, and physical assessments to evaluate heart and lung function. Additionally, some samples will be collected for future research. This study is currently recruiting, and it's a great opportunity to contribute to understanding heart health in the context of rare diseases.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Eligible subjects may include anyone over 1 year of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders. Relatives may include genetic carriers and non-carriers.
• • Healthy adult volunteers must be 18 years of age or older, and must agree to have blood or tissue samples studied, and potentially stored for future research.
• • Index cases enrolled in this protocol will have been referred with a known or suspected pathology that may be associated with cardiovascular dysfunction or risk with a suspected atypical presentation, heritable disorder, or genetic predisposition. The investigator with expertise in the presentation of the subject, along with consulting specialists, will review the medical history and may review any medical records that are available of prospective subjects and offer admission based upon the potential to help the individual, to learn from the subject, or to initiate clinical or basic research suggested by the subject s workup.
• EXCLUSION CRITERIA:
• • Persons of less than 1 year of age or greater than 100 years of age
• • Healthy volunteers unable to give informed consent or who decline to have blood and/or tissue studies, or who do not consent to have samples stored for future research may be excluded from this study.
• • Pregnant women
• • Persons who are not fluent in the English language will be excluded from Patient Reported Outcome Questionnaires. Such persons would be unable to properly complete questionnaires that are only valid in the English language.