ARVD/C Program

The symptoms of ARVD/C are usually a result of an arrhythmia. Many people do not know they have an arrhythmia. There are many different symptoms of an arrhythmia and healthy people without ARVD/C can have these symptoms. When you feel your heart speed up or slow down or feel it pounding or skipping beats, it is called palpitations. Palpitations are a normal response to fright or exertion but can, in other circumstances, be abnormal. If the change in rhythm makes it difficult for the heart to pump blood, other symptoms can occur such as lightheadedness and fainting (also called syncope). Arrhythmias can also impair the flow of blood to the heart muscle and cause chest pain, which is also called angina. An arrhythmia can also cause sudden death if the heart cannot pump enough blood to its own muscle and to the lungs and body. Fortunately, sudden death is not a common complication, but the risk must be considered when deciding on the treatment.

Sometimes people with ARVD/C develop symptoms of heart failure. Heart failure means that the heart muscle is not pumping blood through the body effectively. Symptoms include swelling of the legs, feet, and abdomen; feelings of shortness of breath while lying down and while exercising, and feelings of extreme fatigue.

In addition to these common symptoms of arrhythmias and heart failure other symptoms individuals with ARVD/C have reported include nausea, dizziness, heart fluttering, heart racing, etc.

It is often difficult to diagnose ARVD/C and there is no single test which can alone definitively make or exclude the diagnosis. However, the results of a careful medical history, physical exam by a nurse or doctor and a number of cardiac tests can be used to make a diagnosis. The cardiac tests include:

• Electrocardiogram (ECG)
• A signal averaged ECG (SAECG)
• An exercise stress test
• An echocardiogram
• Cardiac MRI
• 24-hour Holter monitor

It is extremely important that the cardiac MRI be performed at in institution familiar in doing cardiac MRI's to evaluate for ARVD/C, as these studies are difficult to interpret accurately. In addition to these standard tests, an electrophysiology study (EP study), right ventriculogram, and biopsy may be recommended to completely evaluate for ARVD/C. Other tests that provide information about the heart structure and function include a CT scan and MUGA scan. An autopsy can show ARVD/C if the heart is carefully examined.

There is a set of criteria that are based on the finding of certain major and minor findings on cardiac tests and on the family history.

Treatment for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is based on your individual needs and is informed by your cardiac test results, medical history, and the presence or absence of genetic mutations.

Your doctor may recommend one or a combination of the following treatments for arrhythmias:

• Medication: Medication can be used to decrease the number of episodes and the severity of an arrhythmia.
• Implantable Cardioverter Defibrillators (ICD): Implantable cardioverter defibrillators are commonly used devices that treat irregular heart rhythms.
• Catheter Ablation: This procedure can reduce the frequency of arrhythmic episodes in ARVD/C patients.

The Clinical and Genetic Investigations of Right Ventricular Dysplasia – Johns Hopkins ARVD/C Patient Registry:

This registry keeps track of patients and family members with ARVD/C, allowing us to understand the cause and course of ARVD/C, including genetic aspects of ARVD/C.

• Eligible participants: Children and adults who have been diagnosed with ARVD/C and their family members.
   
• Purpose of study: To learn more about the cause and course of ARVD/C.
   
• Principal investigator: Hugh Calkins, MD
   
• Study process: Collection of past medical records and continued collection for 5 years. A blood sample to obtain DNA for genetic studies.
   
• Join the study / contact information: To join this study, call us at 410-502-7161

• Eligible participants: Anyone with ARVD/C who has had an epicardial ablation who is also enrolled in the Genetic and Clinical Investigations of Right Ventricular Dysplasia.
   
• Purpose of study: To describe the outcomes of catheter ablation of ventricular tachycardia in patients diagnosed with ARVD/C.
   
• Principal investigator: Hugh Calkins, MD
   
• Study process: Collection of medical records.
   
• Join the Study / Contact Information: To join this study, call us at 410-502-7161.

All participants of the “Clinical and Genetic Investigations of ARVD/C” research are eligible to participate in an Exercise History Interview. We will ask questions about the type, intensity, and duration of various physical activities you participated in since the age of 10. This information is helpful as we analyze with genoptype (genetic variants) and phenotype (results of cardiac tests, symptoms, etc.) data to better understand the role of exercise in ARVD/C. If you are interested in participating in a phone interview, please email Crystal Tichnell at [email protected].

Many ARVD/C patients are given an implantable cardioverter defibrillator (ICD) to help manage their condition. We are currently studying the relationship between ICD firing and ARVD/C, trying to understand what activities might trigger an arrhythmia that causes an ICD to fire. In addition, we are interested in learning what it is like for patients with ARVD/C to live with an ICD.

• Eligible Participants: Anyone who has had an ICD (transvenous or subcutaneous) implanted for ARVD/C.
   
• Purpose of Study: There are two main purposes to this study:

1. To help us learn more about what causes arrhythmias that need treatment with an ICD shock
2. To help us better understand how having ARVD, an ICD, and ICD shocks affect your life
    

Principal investigator: Hugh Calkins, MD

• Study Process:

1. When you enroll in this study, you will answer some background questions about diet and exercise.
2. Each time your ICD is interrogated (about every 6 months), you will be asked to answer questions about your symptoms, medications and any recent heart-related testing.
3. If your ICD delivers a shock, you will be asked to answer additional questions about your activities in the days before the shock.
4. On a yearly basis, you will be asked questions about how having ARVD/C and an ICD affects your life. We will also ask about what activities you are able to do day to day and about your feelings.

• Study Methods: Participation in this study is by invitation only and all questionnaires can be completed online. We can also send paper copies to you. Alternatively, we can complete them over the phone. We will work with you to request copies of your ICD interrogations from your local doctor.
   
• ICD Study Questionnaires: As a participant in the ICD Study, you will be asked to answer several questionnaires. The links to the questionnaires will be sent to you via email once you are enrolled in the ICD Study. Once you are enrolled you will be receive email invites to complete the necessary questionnaires at specific time intervals with the exception of the ICD Firing Questionnaire. The ICD Firing Questionnaire is to be completed on an "as-needed" basis and the link for that questionnaire is included below. Please do not complete the ICD Firing questionnaire until you have been officially enrolled in the ICD Study and have been given instructions on how to log in.
  
  If you are enrolled in the ICD Study and have received therapy from your device, please complete the questionnaire below:
  
  ICD Firing Questionnaire – Complete if you just had a shock
   
• Join the Study / Contact Information: To join this study, email [email protected] to complete the necessary consent form.

Before you join any study, you should consider whether or not participating in medical research is right for you.

There are many types of medical research. Some involve taking medications or tests, while others may look at medical records or require a questionnaire. Genetic research usually refers to mapping genes and determining the function of the gene and requires a DNA sample. All types of medical research are regulated by governments and institutions in order to protect the rights of the people participating in research.

Here are some general questions you should ask when you consider taking part in research.

1. What is the purpose of the study?
2. What are the benefits for my participation? The risks?
3. What costs are entailed with the study?
4. What will happen with the results of the study?

In general, research projects must be approved by an Institutional Review Board (IRB). You will be asked to sign an informed consent form which provides you with information about the research project. If you decide not to participate in a research project, the doctors cannot refuse to treat you or your family.

For decades, Johns Hopkins Medicine has been a leader in medical research. We continue this tradition in the ARVD/C Program, working with institutions and specialists around the world:

Note: For all of the links below, you will be redirected to a web site or email outside of Johns Hopkins for informational purposes only. Johns Hopkins is not responsible for any aspect of the external web site.
 

• Europe
   
• University Medical Center, Utrecht, The Netherlands [German website]

Richard N.W. Hauer, Professor of Cardiology, Division of Heart and Lungs

• University of Padua, Padua, Italy

Gaetano Theine, MD, Professor of Cardiovascular Pathology, Institute of Pathology

Cristina Basso, MD, PhD, Professor of Cardiovascular Pathology, Institute of Pathology

Domenico Corrado, MD, Cardiac Electrophysiology, Division of Cardiology

Gian Antonio Danieli, Bsc, Professor of Human Genetics

Andrea Nava, MD, Division of Cardiology

• Hôpital de Bicetre, Le Kremlin Bicetre, France [French website]

Guy Fontaine, MD, PhD, DHDR

• The Heart Hospital, London, United Kingdom

William J. McKenna, MD

• Yannis Protonotarios Medical Center of Naxos, Naxos, Greece

Nikos Protonotarios, MD

Adalena Tsatsopoulou, MD

• University Hospital of Munster, Munster, Germany

Thomas Wichter, MD

• Children’s Memorial Health Institute, Warsaw, Poland [Polish website]

Elzbieta Czarnowski, PhD, DSc

• Institute of Cardiology, Warsaw,Poland

Elzbieta Katarzyna Wlodarska, MD

• Nicosia General Hospital, Cyprus

Loizos Antoniades, MD