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Multidisciplinary Study of Right Ventricular Dysplasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00024505
Recruitment Status : Completed
First Posted : September 18, 2001
Last Update Posted : January 17, 2013
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Frank Marcus, University of Arizona

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.

Condition or disease
Heart Diseases Arrhythmogenic Right Ventricular Dysplasia

Detailed Description:


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.


This is a multidisciplinary, multicenter, collaborative study investigating the cardiac, clinical, and genetic aspects of ARVD. The specific aims are (1) to establish a North American ARVD Registry enrolling ARVD patients and their family members, based on standardized diagnostic test criteria, in a prospective longitudinal follow-up study; (2) to determine the genetic background of ARVD by identifying chromosomal loci and specific gene mutations associated with this disorder; (3) to determine the influence of the genotype on the clinical course of patients with ARVD and explore phenotype-genotype associations that will contribute to improved diagnosis, risk stratification, and therapy; and (4) to develop quantitative methods to assess right ventricular function in order to enhance the specificity and sensitivity of ARVD diagnosis.

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Study Type : Observational
Actual Enrollment : 320 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Multidisciplinary Study of Right Ventricular Dysplasia
Study Start Date : September 2001
Actual Primary Completion Date : July 2010
Actual Study Completion Date : July 2010

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

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   12 Years to 90 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Referals to enrolling centers from communities

Inclusion Criteria:

  • Males and females over the age of puberty
  • Suspected ARVD based on the presence of major or minor Task Force Criteria

Exclusion Criteria:

  • Children younger than 12 years of age
  • Internal cardioverter defibrillator (ICD) in place for more than 2 years (for probands)
  • Individuals with monomorphic ventricular ectopy of predominantly RBBB morphology
  • Individuals with obvious cardiomyopathic abnormalities of structure or function predominantly affecting the left ventricle
  • Individuals with other conditions that might be mistaken for right ventricular dysplasia such as congenital heart disease, e.g., atrial septal defect, anomalous drainage of the pulmonary vessels into the right atrium, and Ebstein's malformation
  • Individuals unwilling to undergo diagnostic testing at the nearest enrolling center

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00024505

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United States, Arizona
University of Arizona
Tucson, Arizona, United States, 85724
Sponsors and Collaborators
University of Arizona
National Heart, Lung, and Blood Institute (NHLBI)
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Principal Investigator: Frank I. Marcus, MD University of Arizona
Principal Investigator: Jeffrey Towbin Baylor College of Medicine
Principal Investigator: Wojciech Zareba University of Rochester
Additional Information:
Publications of Results:
Zareba W, Marcus F, Calkins H,; Piotrowicz K, McNitt S. Importance of ECG Presentation of Newly Identified ARVD Probands - Findings from the North American ARVD Registry Circ 114(18):II-706 2006

Other Publications:
Piotrowicz K, Couderc JP, Towbin JA, Marcus F, Zareba W.. Repolarization dynamics and heart rate variability in patients with ARVD. Heart Rhythm 2005;2(1S)S223

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Frank Marcus, Professor Emeritus, University of Arizona Identifier: NCT00024505    
Other Study ID Numbers: 983
U01HL065594-05 ( U.S. NIH Grant/Contract )
U01HL065594 ( U.S. NIH Grant/Contract )
U01HL065652 ( U.S. NIH Grant/Contract )
U01HL065691 ( U.S. NIH Grant/Contract )
First Posted: September 18, 2001    Key Record Dates
Last Update Posted: January 17, 2013
Last Verified: January 2013
Additional relevant MeSH terms:
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Heart Diseases
Arrhythmogenic Right Ventricular Dysplasia
Cardiovascular Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities