Protocol Number: 04-CC-0194
ARVC is hard to diagnose with current tests. This study will see if isoproterenol challenge provokes VT in patients with the disease and can confirm the diagnosis; if it can detect the disease in family members better than currently available tests; and if it provokes abnormal rhythms in healthy control subjects. In addition, the study will explore the genetics of ARVC and determine whether infection could contribute to its development. Patients with ARVC, their family members, and normal volunteers 18 years of age and older may be eligible for this study. Candidates are screened with a medical history and physical examination, electrocardiogram (EKG), treadmill and bicycle exercise testing, and an echocardiogram (ultrasound test of the heart). Participants undergo the following tests and procedures: - Blood tests - Blood is collected to study the genetics of ARVC, to test for evidence of old infections, and to measure brain natriuretic peptide - a hormone that can increase with development of heart failure. - Heart magnetic resonance imaging (MRI). This test looks at heart structure and function. MRI uses a magnetic field and radio waves to produce images of body tissues and organs. The subject lies on a table that is moved into the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking sounds that occur during the scanning process. At some time during the test, the subject is given a contrast agent called gadolinium through a catheter (thin, flexible tube) in a vein to improve the scan pictures. The scan time varies from 30 to 90 minutes, with most scans lasting 60 minutes. (Control subjects do not undergo MRI.) - Isoproterenol challenge. Subjects are given increasing doses of isoproterenol through a catheter until the heart rate reaches 100 to 120 beats per minute for no more than 1 hour. A special EKG records heart rhythm during the test and an echocardiogram records right and left ventricular function. - QRST surface mapping EKG. This special EKG, done with 64 or 120 leads, maps abnormalities of heart rhythm and cardiac conduction during the isoproterenol challenge. These tests are like a regular EKG, except that more leads are placed on the chest, and on the back as well. Patients and family members who wish to have follow-up visits may return to the NIH Clinical Center once a year for 5 years for guidance about therapy based on clinical considerations and new information or investigations.
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