Clinical Trial: Multidisciplinary Study of Right Ventricular Dysplasia

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Multidisciplinary Study of Right Ventricular Dysplasia

Brief Summary: The purpose of this study is to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ventricular arrhythmias.

Detailed Summary:

BACKGROUND:

ARVD is an uncommon disorder but is considered a major cause of sudden death and life-threatening arrhythmia, in particular in the young population. The prevalence of ARVD is unknown but is certainly underestimated because of the difficulties in obtaining a correct diagnosis. It appears to be particularly frequent in certain geographical areas, probably for a founder effect, such as in northeast Italy, where a large number of ARVD cases and families have been described. A noncontrolled study of the University of Padua reported a frequency of familial forms of about 30 percent, indicating the existence of a defective gene in a large proportion of cases. In the United States the frequency of the disease is unknown, but the number of cases seems to be increasing.

The etiology of ARVD was unknown until very recently. The main hypothesis involved apoptotic mechanisms and, in some cases, a viral infection. However, in the last couple of years, two genes causing ARVD have been identified. The first one encodes plakoglobin, a protein of the cardiac junctions with adhesive and signaling functions. The second ARVD gene is the cardiac ryanodine receptor (RYR2), which has been characterized only very recently by Dr. Danieli's group. In fact, this discovery is so recent that in this study, RYR2 is still considered a potential candidate. The discovery of the first disease genes provides the basis for a candidate gene approach following the hypothesis of a "final common pathway." Thus, major candidates become genes involved in cell-cell adhesion and encoding ion channels.

DESIGN NARRATIVE:

This is a multidisciplinary, multicenter, collaborative study investigating the cardiac, clinical, and genetic aspects of ARVD. Th
Sponsor: University of Arizona

Current Primary Outcome: Identifying the cardiac, clinical, and genetic aspects of ARVD [ Time Frame: Measured during the course of the study ]

Original Primary Outcome:

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Arizona

Dates:
Date Received: September 18, 2001
Date Started: September 2001
Date Completion:
Last Updated: January 15, 2013
Last Verified: January 2013