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A potential, or new diagnosis of ARVD/C often generates many questions. It can also produce a feeling like life has suddenly gone out of control. Receiving answers, gaining a well-rounded knowledge on the subject, and the passage of time can lift this feeling.
The following is provided to assist you to answers for a few of the most common questions. Links on this page take you to locations on our site, other sites, or pop up email forms. Note that information about ARVD/C changes when studies complete and results are published, thus some of the material you read may now need updating. The content of provided resources do not necessarily reflect the opinion of this site.
Please let us know if you find a valuable new resource, or if links on this page no longer work.
Note: Links to other websites will open a new browser window. When you are done exploring the other site, simply close the new browser window to return to this page.
A friendly, knowledgeable voice or electronic communication can enlighten and comfort.
Communicating with ARVD/C patients who come from all walks of life can provide you with a spectrum of resources which help meet your needs. Many have already queried for much of the same information you want and they keep up to date with incoming news. They know the ARVD/C experience, so can act as a good sounding board. Finally, communicating with other patients can immediately relieve the feeling of being alone with this diagnosis.
Communicating with professionals can provide you with answers to questions about ARVD/C, medical testing and treatment, where you can receive a free 2nd opinion about your diagnosis, how you can join important research studies, and which "ARVD knowledgeable doctors" may be located in your area.
Communicate with Other Patients:
Join the International ARVD Family Support Network
The Zapper BBS: Discussion Center for those with Cardioverter-Defibrillator Devices
Implantable.com: Forums for those with Pacemakers and Cardioverter-Defibrillator Devices
Speak to Professionals:
• Crystal Tichnell, Johns Hopkins Hospital, Baltimore, U.S.
ARVD Program Coordinator/MGC
Phone: (410) 502-7161
• Kathy Gear, Sarver Heart Center, Arizona, U.S.
ARVD Coordinator/Sr. Research Nurse
Phone: (520)626-6262
Contact U.S. and International Professionals:
Email Crystal Tichnell, John Hopkins ARVD Program Coordinator
Email Kathy Gear, ARVD Coordinator/Sr. Research Nurse
Locate U.S. and International Specialists
Locate Enrolling Centers, Multidisciplinary Study of Right Ventricular Dysplasia
The following links will provide you with a means to locate some of the reading material available. Some material is more helpful than others. Some is written in layman's terms, others are written in medical terms and prove more challenging to read. Patients often print out and provide medical articles to their doctor for interpretation when they feel that the article may contain information beneficial to their care.
Dr. Hugh Calkins of Johns Hopkins: Arrhythmogenic Right Ventricular Dysplasia
Mark Norman: Information for Patients and Relatives
Baylor College of Medicine: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
ARVD.net: A repository of information
Cleveland Clinic: Arrhythmogenic Right Ventricular Dysplasia (aka ARVC)
The Cardiomyopathy Association: Arrhythmogenic Right Ventricular Cardiomyopathy
Answers.com: Arrhythmogenic Right Ventricular Dysplasia
Medical Article: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Book: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Search Other Sites
Search Johns Hopkins ARVD.com
The National Library of Medicine (Pubmed.com) is filled with medical abstracts new and old. You can use their search engine to locate those of interest to you. Some abstracts provide links to the full text article. Others provide links to a journal website which requires a subscription or a fee before the full text article can be read.
Search "Pubmed" for "ARVD"
Search "Pubmed" for "ARVC"
Search "Pubmed" for "Arrhythmogenic Right Ventricular"
Circulation is one of the scientific journals published by the American Heart Association. The full text of many articles are available. The following "search" links will take time to load on screen.
Search "Circulation" for "ARVD"
Search "Circulation" for "ARVC"
Search "Circulation" for "Arrhythmogenic Right Ventricular"
In order to receive the most beneficial long and short term medical care and advice for a condition, you must receive a "deserved" and "correct" diagnosis. A "missed" diagnosis can be extremely dangerous, particularly if the "deserved" diagnosis is one of a Sudden Death heart disease. On the other hand, an incorrect diagnosis can lead to unnecessary and/or misguided medical treatment.
- "The most important aspect in the treatment of ARVD/C is establishing a correct diagnosis based on the International Task Force criteria. In our experience, cardiologists are not aware of these diagnostic criteria for ARVD/C and place too much importance on the results of magnetic resonance imaging of the RV. Patients with ARVD/C generally all have an abnormal 12-lead electrocardiogram, abnormal echocardiogram, and ventricular arrhythmias with a left bundle branch block morphology. If noninvasive testing suggests ARVD, invasive testing with an RV angiogram, RV biopsy, and electrophysiology study are recommended. ("Arrhythmogenic right ventricular dysplasia/cardiomyopathy"; Curr Treat Options Cardiovasc Med. 2005 Dec;7(6):467-75; Prakasa KR, Calkins H)
Experts consider whether a person fulfills the diagnostic criteria. Even so, there are times when concealed ARVD/C may be highly suspected, yet sensitive testing does not reveal it. Concealed or early stage ARVD/C can result in Sudden Death.
It is possible to receive a definite diagnosis or a "highly probable" diagnosis. A 2nd opinion by an ARVD expert can be useful to receive, confirm, or reverse a diagnosis of ARVD/C. There are several very skilled ARVD research groups which are available to provide free 2nd opinions on a diagnosis of ARVD/C.
Johns Hopkins ARVD.com: How is ARVD Diagnosed?
Johns Hopkins ARVD.com: "Task Force Criteria for Diagnosis" in list form
"Task Force Criteria for Diagnosis" in table form
Pubmed: Abstract of document holding Task Force Criteria for Diagnosis
Diagnosis of Arrhythmogenic Right Ventricular Dysplasia: A Review
There are several excellent research groups located in the United States. There are also skilled and expert research groups located in other countries, some of which are France, Germany, Italy and the UK. We'll try to inform you of other available centers as we hear about them.
In the future, we hope to learn of more groups willing to provide a free 2nd opinion for a diagnosis of ARVD/C. For the moment, we are aware of two groups who will do this in the U.S. If you are unable to travel to an institution with an expertise in ARVD, the following two centers have expressed that they are willing to review medical records and offer recommendations as to what additional testing is needed and whether or not ARVD is a possible diagnosis.
Many ARVD/C patients have been very happy with the expertise and care given to them by those in the Johns Hopkins Arrhythmogenic Right Ventricular Dysplasia (ARVD) program at Johns Hopkins Hospital (contact Crystal Tichnell.) Additionally, many have been very pleased to receive the excellent assistance of Dr. Frank Marcus who is one of the leading and most long term, expert ARVD/C researchers in the world. He is located at the Sarver Heart Center (contact Kathy Gear.)
Please note, free 2nd opinions are generally limited to a review of records. Also, please confirm the extent of that which is offered by any institute with that institute, and if they continue to offer free 2nd opinions.
Other free 2nd opinions may be available elsewhere in the world. To find out, you may want to contact a specialist using the above link to "Locate U.S. and International Specialists."
The causes of all cases of ARVD/C are not yet known. Yes, a percentage of the cases of ARVD/C are due to the inheritance of a defective gene. According to the article "Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia" (Indian Pacing Electrophysiol. J. 2003;3(3):148; Indik J, Marcus F), "thirty to fifty percent of patients with ARVC/D will have evidence of familial disease." A Baylor College of Medicine webpage written about ARVD/C reads, "a certain proportion of cases occur due to a new mutation." Yet another proportion of the cases of ARVD/C are "believed" to be due to an "acquired etiology" (e.g. virus infection.) There is a theory that a virus within the heart wall (myocardium) might trigger ARVD/C by causing an inflammation which may disrupt the desmosomes. Desmosomes are adhesion junctions, these keep the heart cells "sticking together."
Researchers have known that this disease could be genetically inherited for quite a while. The article "Genetic Background of ARVDs" by genetic researchers Drs. Alessandra Rampazzo and Gian Antonio Danieli (Department of Biology, University of Padova, Padova, Italy) states, "The genetic inheritance of the disease was established more than fifteen years ago (Nava et al., 1988)." When the latter article was written just prior to April of 2005, "ten different loci and five disease-genes" had been identified and "several mutations in ARVD genes" had been detected.
According to ARVD.net, "ARVD is mostly inherited as autosomal dominant trait with incomplete penetrance." What this means is that the person who has inherited a defective gene "has 50% chance to pass the defective gene" on to their children or descendants. Those who inherit a defective gene have "about 70% chance of manifesting the disease at the clinical level" (in a way that can be found by doctors.)
The autosomal recessive inheritance of ARVD/C is infrequent, but is seen in Naxos Disease and Carvajal Syndrome. Autosomal recessive diseases are inherited when both parents are carriers of a gene mutation and an offspring receives a copy of the "gene mutation" from each parent. If both parents are carriers, there is a 25% chance of a child inheriting the abnormal genes and, consequently, developing the disease. Naxos Disease and Carvajal Syndrome are considered to be "cardiocutaneous" diseases because they affect both the heart and the skin (as well as the hair.) These ARVCs cause cardiomyopathy, a skin affliction called palmoplantar keratoderma, and "woolly" hair (example of hair/skin in Naxos, example of hair/skin in Carvajal)
Document with table listing the ARVD/C genes identified as of May 27, 2006
ARVD.net on "ARVD Genetics"
ARVD/C Genetic Synopsis
Explanation of "Autosomal Dominant"
Explanation of "Autosomal Recessive"
GenAtlas.org - Gene Database
GenAtlas: ARVD1, TGFB3, Transforming Growth Factor, Beta 3
GenAtlas: ARVD2, RYR2, Ryanodine Receptor
GenAtlas: ARVD8, DSP, Desmoplakin
GenAtlas: ARVD9, PKP2, Plakophilin 2
GenAtlas: ARVD10, DSG2, Desmoglein 2
OMIM: ARVD11, DSC2, Desmocollin 2
GenAtlas: ARVDPPK, Naxos, JUP, Plakoglobin
Search "Circulation" for "ARVD" and "genetics"
Search "Circulation" for "ARVC" and "genetic"
Search "Circulation" for "Arrhythmogenic Right Ventricular" and "genetic"
OMIM is the Online Mendelian Inheritance in Man. It is a database catalog of human genes and genetic disorders.
Search "OMIM" for "ARVD"
Search "OMIM" for "ARVC"
Search "OMIM" for "Arrhythmogenic Right Ventricular"