ARVD/C Information Home Page

Researchers: click here to notify us if you would like your research study listed here

Many people diagnosed with ARVD, as well as their family members, often do not realize just how critically important they and their information are to the whole picture of ARVD. Those of us who have been affected by a diagnosis of ARVD are looking for answers to vital questions about this life-threatening disease and wonder, "Why are answers to our many questions not available yet?" The answer to that question is simple!

ARVD was first discovered, or described, in the late 1970s. In order to make their research more productive, researchers need a very large data pool. Although doctors and scientists began diligently studying the cases of ARVD that came before them, there was a virtual dearth of information. Simply put, they had not encountered enough known cases to present to any one research team at any one time.

We know today that those with ARVD are dispersed across the globe, which makes it difficult to locate, notify and join them into available studies. Unless the worldwide ARVD community works together to participate in and support research, only small scale studies will be possible. In some cases, it is the large scale study that is necessary to produce the most accurate and helpful results and information.

Ultimately, successful disease research is predicated upon pulling the pieces of a medical puzzle together. We know that the pieces of the ARVD puzzle will be found within the ARVD community (those diagnosed with it and their family members) because that is where the data resides. Those within the worldwide ARVD community can make a difference in the speed at which ARVD research progresses. If we join together, we can give researchers the large study group for which they are looking. Therefore, we encourage you to participate in all available ARVD research studies.

This page will introduce you to research opportunities of which you can be a very important part!

• ARVD Patient Registry at John Hopkins (Clinical and Genetic Investigations of Right Ventricular Dysplasia): The ARVD Patient Registry at John Hopkins (Clinical and Genetic Investigations of Right Ventricular Dysplasia) is available to ALL patients with ARVD and their first-degree relatives (parents, siblings, and children). The Johns Hopkins ARVD Registry involves submission of your medical records, a blood sample for genetic research, and yearly follow-up. The goal of the registry is to clinically characterize ARVD patients. We hope to learn more about the natural history of the condition, the range of severity, and the genes that cause ARVD. Participation in the Johns Hopkins ARVD Registry may also qualify you for additional studies at Johns Hopkins. If you have questions about the Johns Hopkins Registry, please contact Crystal Tichnell at 410-502-7161, Cindy James at 443-287-5985 or Brittney Dye at 410-502-3616. If you would like to extend your support to this research by making a tax deductible donation, please click this link to read more, then contact the people at the Johns Hopkins ARVD project. Click here to email Crystal Tichnell
• ARVD Children's Project: Arrhythmogenic right ventricular dysplasia (ARVD) can lead to cardiac arrest and unexpected sudden cardiac death in affected individuals, especially young people. However, the disease development is very concealed in the early stage. Thus by the time of diagnosis, ARVD is already in the advanced stage in most cases or a fatal cardiac event is the first symptom.

  Awarded a grant by the American Heart Association (AHA SDG 2007-2010), research cardiologist Li Zhang is conducting an ECG study for 4 years (2007 to 2010) at the Main Line Health Heart Center in Wynnewood, PA. The study is aimed at improving the diagnosis of ARVD for the purpose of sudden death prevention.

  Li Zhang is a leading investigator in ECG identification of sudden cardiac death diseases. Click here to review Li's curriculum vitae. For the preparation of this project since 2005, Li has been mentored by Guy Fontaine, M.D., Ph.D., a pioneer ARVD investigator. She has also established a collaboration network with North American ARVD Registry investigators and ARVD investigators around the world. Currently she is developing a novel method in ECG identification of ARVD with a group of the ARVD experts.

  The primary focus of this project is the children of ARVD patients. By conducting an annual ECG follow-up, Li will keep a close eye on the minor ECG changes in children. With comparisons to affected family members (ARVD patients) and consultations with a group of ARVD experts and the cooperation with patients' cardiologists, this ECG follow-up study may help determine whether ARVD is developing or not from an ECG prospective, and may facilitate effective treatment for arrhythmia control and sudden death prevention. The preliminary study has shown the promising results that it is likely this project may lead to an improved detection of ARVD and bring those pre-symptomatic individuals to medical attention before the development of a fatal cardiac event.

  If you are diagnosed with ARVD or you are a blood relative or a descendant of an ARVD patient, you are eligible to join this study. If you are eligible to join this study OR if you know someone who may be eligible, please feel free to contact Li for more information about the study enrollment. Click here to read an invitation to the study. You may contact Li by email (ldlzhang@gmail.com), by phone (484) 222-1876, or FAX (610) 896-0643. If you would like to extend your support to this research by making a tax deductible donation, please click this link to read more, then contact Carolyn Goldman, Director of Development, Main Line Health Heart Center. Click here to email Carolyn Goldman

• Dr. Frank Marcus, Sarver Heart Center, University of Arizona ARVC/D Research: Long time ARVC/D researcher, Dr. Frank Marcus was the Principal Investigator of the Multidisciplinary Study of Right Ventricular Dysplasia (www.ARVD.org). This was a five-year study funded by The National Institutes of Health (NIH). The primary goal was to identify 100 patients with definite ARVD and their family members. Individuals were asked to undergo a number of tests according to specific protocols at one of the participating enrollment centers. Several of the tests were to be sent to carefully chosen core laboratories for their expert opinion. Genetic studies were to be conducted. Clinical and genetic characterizations of the individuals and their family members would improve diagnostic techniques, leading to more accurate risk stratification, and ultimately, therapies to treat the disease rather than the symptoms.

  Update June 14, 2010 from Dr. Frank Marcus:
  "The Multidisciplinary Study of Right Ventricular Dysplasia has been completed. The major aim of that study was to examine how best to make the diagnosis of ARVC/D. That study showed that the diagnosis is indeed difficult, and that there is considerable variation in interpretation of the imaging studies from one center or observer to another. This was reported in an article published in the Heart Rhythm journal. Because of this information, we then formed a task force to modify the criteria for diagnosis, primarily providing specific values for what is normal and abnormal with regard to RV structure and function. This was reported in the modification manuscript published in Circulation and in the European Heart Journal.

  We now are focusing on the next step, which is to identify more genes causing this disease as well as investigating the molecular abnormalities in ARVC/D. This is the basis for a new grant submitted to the NIH."

  People who would like to have their particular medical cases reviewed by Dr. Marcus and his team and/or who would like be kept in mind for the next study may contact Dr. Marcus or his research nurse Kathy Gear. Click here to email Dr. Marcus, click here to email Kathy Gear. Alternately, you may phone them in the U.S. at (520) 626-6262.

  *ARVD-ARVC-Info.com Manager Bulletin:
  Dr. Marcus' research, the medical manuscripts he has had published, and his lectures and presentations to doctors across the globe have proven extremely important to helping the ARVC/D community worldwide for more than 30 years. Presently, Dr. Marcus and his research group are struggling to maintain funding so that they can make progress in risk stratification and other projects related to ARVC/D and while they await the process of grant review. Your personal donations can assist this research group to complete more of their important efforts. If you would like to extend your support to this research by making a tax deductible donation, please click this link to read more, then contact Kathy Gear at the University of Arizona ARVD project. Click here to email Kathy Gear.