ARVD/C Information Home Page  •  Internet Café

A notable list of ARVC/D investigators were seated in this Internet Café discussion (listed in alphabetical order):

As a preface to the printing of our first Internet Café discussion, I would like to share portions of a speech given by a loving father some years ago. Text from the speech has been slightly edited to honor the family's privacy.

"Our fifteen-year-old daughter died of cardiomyopathy resulting from ARVD in 200[] while preparing to train with her high school team. On that day, she was literally skipping and cavorting with her friends one moment, then struck down the next. She recovered immediately but just long enough to assert, 'I'm ok,' before she collapsed and passed on. ..."

"We were completely unprepared for her sudden death and had no reason to believe she was in anything other than excellent health and physical condition. ..."

"Today, we want to highlight one aspect of the impact of ARVD on our family. This is what I refer to as the intangible problem of the 'if only' factors. By that I mean the combination of regret and self-recrimination associated with the knowledge that events need not have transpired as they did. Our daughter's death at age fifteen was not inevitable; the chain of missed indicators, stresses and stimuli that allowed her condition to progress unnoticed and that ultimately triggered the fatal attack could have been altered -- if only ..."

"In the case of our daughter, these 'if only' factors were engendered by the especially insidious nature of ARVD. ARVD strikes us as insidious in the sense that its manifestations are so difficult to detect and diagnose, and in the sense that it tends to masquerade as other, less worrisome conditions. ..."

"To be honest and to my everlasting shame, we attributed her minor complaints about pains as a touch of hypochondria and the product of the generally cushy lifestyle enjoyed by most American teenagers. We could not have been more woefully mistaken."

"If only she had been more insistent in telling us of her pains and of the bouts of exhaustion we learned about only after her death."

"If only her pediatrician and pulmonary specialists had recognized how ARVD can masquerade as other conditions."

"If only they had recognized the possibility that her symptoms betokened something life threatening and had referred her to a pediatric cardiologist for evaluation."

The following quote was also not a part of the actual Internet Café session. It came to me by email from the mother of two ARVD/C diagnosed children, arriving during the time frame within which the discussion was held. This quote also seemed fitting in this preface.

"When my son was 4 years old, he said that his heart was going so fast. I thought nothing of it although I do remember him saying that. I thought it was such a strange thing to say for such a small child and well now I know after many years."

In respect and honor of all of those who we have lost far too early, I dedicate and begin this first Internet Café. My hope is that we all learn information that we can use and pass on to others in our fight against sudden death.

Micheline "Tink" Long

Dear Li, Guy, Frank, Andrés and Andrew,

Just a few notes of comment...

Continuously I hear of patients being told something to the effect of "You are okay for now, but let us know if you have any symptoms." My question is, "Do patients or doctors, for that matter, know the symptoms -- the subtle symptoms -- what the symptoms might feel like, how they are described by patients?" Are patients instructed on what might be a symptom or how it might feel? (i.e. fluttering in the chest, a buzzing feeling in the heart area, a rumbling in the chest -- these are numerous in explanation; chest and/or heart and/or back pain.) Oh, and are patients instructed where their actual heart area is?

I propose that unless patients are informed of some of what they might experience/feel which might mean/be a symptom (outside of the obvious blacking out/fainting), they might be having symptoms and not realize or report it. They might be in extreme danger, because many patients a) don't sense/feel their arrhythmias or know that the sensation they are feeling is an arrhythmia OR b) think that a "something" they are feeling might be an important symptom (numbness in hands/feet, pain in chest, fluttering and/or pain at throat/jaw -- again these are numerous).

The other day I was again introduced to another young sudden death. With sadness I read another autopsy report, this time of a 20ish year old male.

The father commented that there were no prior indications of any problem with his son. On the other hand, after the son died, one of his college friends told the parents that their son had one incident that he was aware of when the son was out for a run and felt badly -- but that singular incident didn't raise any suspicions and the parents had never been informed about it.

[What did "felt badly" mean? Short of breath, or struggling for air, or "forgetting to breathe" or light headed or so extremely weak they could hardly move? These are some of the things ARVD patients experience as symptoms.]

In the past I read from a patient:

"My brother was diagnosed with ARVC in 20XX at age 26, was due to get an ICD implanted, but sadly did not listen to the doctor's advice and kept playing sport which ultimately killed him two months later. He had no apparent symptoms except occasional black outs playing his sport. Although late in the story he discovered the 'twitching' he commonly felt in his chest -- and mistook for muscle twitches -- were actually arrhythmias the doctor told him (he had some while in the cardiologist's office and while hooked up to an ECG)."

Several years back I interviewed the parent of a teenaged boy who died suddenly and who supposedly had no symptoms prior to the event. I learned that one of the boy's friends had noticed the boy thumping himself on the chest with his fist on several occasions (in the times, weeks, prior to the event). I believe that one of the occasions was just after the boy had done some push ups. My guess is that this young man learned that by thumping himself on the chest, he could maybe stop the strange rumbling he was having in his chest (which is how I stop some of my arrhythmias.) The boy also had odd shoulder pain that he mentioned, but it was attributed to athletic things. On occasion the boy awoke in the middle of the night -- supposedly with nightmares. I think that he might have been having VTs which set off anxiety, breathlessness and nightmares -- not uncommon with arrhythmias (or vice versa).

Finally... I believe that there is a lot to thoroughly interviewing a patient to learn what they are feeling and how they describe it. I believe that it can be extremely important to pry a little bit, as many people have learned to discount what they are feeling and often don't take note unless they are asked (like, "Oh...you mean heart racing isn't abnormal? I thought everyone felt this.") They certainly don't want to be considered a complainer or hypochondriac AND they don't want to be laughed at for trying to explain what they are experiencing but have trouble describing.

Yes...a rumbling in the chest could be indigestion, a fluttering in the throat could be acid -- but in those who could turn up with arrhythmias, these are important things for them to note and could mean "symptom to be reported."

With so much being learned, I still cannot get away from feeling that patients, people, must be educated about that which could mean "heart symptom." We know what a toothache feels like and report that, we need to know what potential heart symptom might feel like or be and to report it.

Thanks for listening...

Tink

Dr. Li Zhang

"Happy Mother's Day dear Tink!

Your questions and concerns are very important. I anticipate Drs. Fontaine, Marcus and other investigators may share with us their experience and knowledge addressing those concerns.

In my two cents, ARVD related symptoms are mostly non-specific. The challenge is when the symptoms occurred in athletes, they often ignored them because they are trained to beat limits and overcome difficulties. Thus the disease could be fully developed while the patients had almost no complaints before it is too late.

The other challenge is the difficulty in differentiation of no harm symptoms (false alarm) from the true concerning symptom (true alarm) in those clinical Dx has not been established.

There is more work to be done for risk stratification in ARVD.

Kind regards,

Li"

Dr. Guy Fontaine

"Dear Tink,

Everything you say is absolutely correct and it fits exactly with what I have observed in my long experience with arrhythmia patients. The way you discuss each symptom is also perfectly correct. ...

Guy"

Dr. Frank Marcus

"Good to hear from you.

The problem that you raise relates to individuals who are perceived by themselves as being well, who have symptoms that they don't recognize as being due to an arrhythmia and that could be indicative of a serious problem that should be recognized and treated.

I don't know how to approach this for the population at large. However, for the first degree family member of a proband with ARVC, they should be told of the symptoms that could be dangerous; particularly presyncope, syncope or palpitations. In addition, they should undergo routine cardiac evaluation, unless their parents are gene positive and they are gene negative.

Frank"

Dr. Andrés Ricardo Pérez Riera

"Dear Tink,

Major symptoms and signs of cardiac arrhythmias are palpitations, presyncope, syncope and sudden cardiac death. Non specific symptoms such as shortness of breath, weakness and fatigue may be due to compromise in cardiac output and prolonged duration of the arrhythmia.

Elderly patients with bradychardia due to sinus node dysfunction or AV block can present with altered mental status and dementia.

Awareness of an irregular heart beat varies greatly from patient to patient, many patients are acutely aware of any cardiac irregularity, whereas others are oblivious even to long runs of rapid VT.

Often the asymptomatic patients are those referred for evaluation of an arrhythmia noted incidentally during assessment of another reason, such as a pre athletic physical examination in a youngster, a preinsurance physical examination in an adult, or a routine preoperative assessment.

Those patients who do complain of symptoms most commonly note palpitations defined as sensations experienced as an unpleasant awareness of forceful, irregular, or rapid beating of the heart. Patients describe these symptoms in various ways. Most frequently, they use terms such us a thumping or flip-flopping sensation in the chest; a fullness in the throat, neck or chest; or a pause in the heart beat, "as if my heart stopped." The last is most likely to be caused by the compensatory pause after a PVC or the resetting of the sinus rhythm after a premature atrial complex. Presumably, the premature beat, particularly if it is a PVC occurs too early to permit sufficient ventricular filling to cause a sensation when the ventricle contracts. The ventricular systole that ends the compensatory pause may be responsible for the actual palpitation and is caused by a more forceful contraction form prolongued ventricular filling or increased motion of the heart in the chest. Anxiety over such symptoms is commonly the complaint that brings the patient to the doctor's office.

Premature atrial or ventricular complexes probably constitute the most common cause of palpitations, and patients often us the term skipped beat or dropped beat to describe them. If the premature complexes are frequent or particularly if a sustained tachycardia is present, patients are more likely to complain of lightheadedness, syncope or near-syncope, chest pain, fatigue, or shortness of breath. The presence of associated cardiovascular problems influences the nature of the symptoms. For example, a supraventricular tachycardia at a rate of 180 per minute may provoke chest pain in a patient with coronary artery disease or syncope in a patient with aortic stenosis but result in only a breathless feeling on an otherwise normal younger.

An important point is that patients with VT, particularly young, otherwise healthy persons, can be completely asymptomatic or experience minimal symptoms should not exclude the diagnosis of VT. Bradyarrhythmias have their own constellations of symptoms that usually include syncope, near-syncope and fatigue.

Knowledge about the typical onset and termination of the tachycardia is helpful. Abrupt, paroxysmal onset is consistent with a tachycardia such as AV nodal reentrant tachycardia.

The differential Diagnosis of Palpitations includes:

Sinus tachycardia

• Physiologic
• Inappropriate sinus tachycardia
• Postural Orthostatic tachycardia syndrome
• Anxiety neurosis, thyrotoxicosis, perimenopausal syndrome, pheocromocitoma

Atrial arrhytmias

• AF
• A flutter
• Atrial tachycardia
• Atrial premature complexes.

Supraventricular tachycardia

• Atrioventricular nodal reentry tachycardia, orthrodromic AV reciprocicant tachycardia, Wolff-Parkinson-White syndrome,
• Permanent form of junctiona reciprocicating tachycardia

Junctional tachycardia

• VT
• VPCs
• Ventricular couplets
• Non-sustained VT
• Idiopathic

Drugs induced: cocaine, QT-prolonging drugs, alcohol

Sustained VT

Conduction system disease

1. Sinus bradychardia
2. Tachycardia-bradychardia syndrome
3. Heart block/Pause-dependent TdP

Familial Arrhythmias syndrome

• LQTS
• SQTS
• CPVT
• BrS
• ARVD

Proarrhythmia

• Antiarrhytmic agents drugs that prolong the QT interval
• Pacemaker mediated tachycardia

Metabolic syndromes

1. Hipoglycemia
2. Electrolyte inbalance

Structural heart disease

Valvular disease

Primary pulmonary hypertension

All the best,

Andrés"

Dr. Andrew Krahn

"Dear Tink,

Thank you for being a champion for this important cause.

The art of medicine is knowing the balance of being thorough and yet practical, detecting unusual and serious problems while not creating angst over every minor bump on life's road, and maintaining everyone's sanity along the way. In a world of tradeoffs, no place you set the bar will be perfect. If we exclude every athlete from sport because of minor symptoms, we will be even fatter and less healthy because of our sedentary lives. If we ignore the warning signs, you will continue to hear sad stories of 'if only...'

What is clear is that thoughtful education about health is crucial to giving people the chance to take charge of their health, recognize warning signs and prevent tragedies like ones you describe. Our recent analysis of a patient group who survived their cardiac arrest because of the good fortune of being observed when they had their event suggests a small proportion of these patients had a recent warning sign that was ignored. These are the people to target educating, since the condition was trying to warn the person before it was nearly fatal shortly thereafter. The clear first target for this is the family members of patients with inherited conditions like ARVC, who should "let the doctor decide" if their minor symptoms are important or not, so that there is an opportunity to heed the warning signs.

Let us hope that raising awareness will make for less sad stories in your dialogue.

Andrew Krahn"

Dr. Li Zhang

"Dear Tink,

I give you full permission to circulate my comments in the family network.

ARVD development is mostly concealed in the early stage. Sudden death can occur before satisfying the diagnostic criteria. So much needs to be done in early detection and sudden death prevention. Education is a very important element.

Go forward and thank you for your great efforts in ARVD family support and education.

My heart goes to those families who lost their loved ones due to this condition...

Have a good Memorial Holiday,

Li"

Dr. Frank Marcus

"Tink

... In my previous response, I didn't offer any specific suggestions, except to state that the challenge is to be able to identify serious symptoms in young people who have no awareness of having a cardiac problem. ARVC is a rare disease. How common are some of these symptoms in healthy young individuals? It would require a research project to answer these questions. If we knew the answers to these questions, we could then alert young people, especially athletes to recognize that these could be symptoms that should be investigated. Otherwise we may have a large number of young people seeking medical advice without justification. ...

I suggest that you emphasize that there is a difference between retrospective analysis of symptoms in athletes who had no awareness that they had ARVC or any other cardiac problem and those who were diagnosed with the disease. ... As Li pointed out, the challenge is the appearance of symptoms in athletes who have no knowledge that they have a cardiac problem.

I hope these comments are useful.

Frank"

Dr. Andrés Ricardo Pérez Riera

"Dear Tink

Fantastic your contribution.

All the best,

Thanks a lot for constant support.

Andrés"

Education, education, education. Learning from history and retrospective analysis is important. Learning more about the overt (specific) and subtle (non-specific) warning signs and symptoms of ARVD/C is important. Interviewing for the overt and subtle warning signs and symptoms of ARVD/C is important. Carefully looking for and diligently pursuing that which may need immediate attention is extremely important.

Finding a way to "catch" those presenting with the warning signs and symptoms of ARVD/C without causing angst AND before an "if only" arises is key.

Thank you doctors Fontaine, Marcus, Krahn, Pérez Riera and Zhang. Our relationship with you is highly valued! We appreciate all that you are doing for the ARVD/C community and for your input in this discussion.