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Protocol Details

Cardiovascular Disease Discovery Protocol

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2
Max Age: 100

Referral Letter Required


Population Exclusion(s)


Special Instructions

Currently Not Provided


Cardiac Disease;
iPS Cells;
Cardiac Risk Factors;
Cardiac Disease Discovery

Recruitment Keyword(s)

Heart Disease;
Cardiac Disease;
Heart Disease Risk


Cardiac Disease

Investigational Drug(s)


Investigational Device(s)

MRI Scanner
CT Scanner



Supporting Site

National Heart, Lung and Blood Institute


- 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 2 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 researchers:

- 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.

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Eligible subjects may include anyone over 2 years of age who is affected with diseases/disorders (index cases), or who is a relative of a person who is affected with diseases/disorders.

--Pregnant women are eligible to participate in this study if they have been referred with a known or suspected pathology or if they are a relative of an index case with a known or suspected pathology.

--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 case subjects 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 records 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.


Persons of less than 2 years 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.

Healthy volunteers who are pregnant or nursing will be excluded from this study.

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Michael N. Sack, M.D.
National Heart, Lung and Blood Institute (NHLBI)
BG 10-CRC RM 5-3150
(301) 402-9259

Rebecca D. Huffstutler, C.R.N.P.
National Heart, Lung and Blood Institute (NHLBI)
BG 10-CRC RM 5-1462
(301) 594-1281

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Clinical Trials Number:


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