Inherited Heart Rhythm Disorder (Pre-participation) Screening Questionnaire

An underlying genetic disorder is often the cause of sudden cardiac death in young people. These diseases claim as many as 700 young lives in Canada every year.  While the exact prevalence of these diseases is unknown most experts would agree that 1 in 500 is not an unreasonable estimate of the number of young people carrying a potentially lethal gene.  A good starting point for determining if your child may be affected is to complete both a Patient and Family History.

At important times in every child’s life take a moment to complete this questionnaire.

·        When starting Kindergarten

·        When starting Grade 5

·        When starting a competitive sport

·        When starting a prescription drug

·        When starting High School

·        When starting University

·        Anytime you are made aware that your child has fainted

Encourage children to self-report symptoms described in this questionnaire including extreme shortness of breath, palpitations, extreme fatigue and brown-outs during physical activity.         Insure that schools, clubs and sport leagues have a mandatory reporting policy for fainting.

Investigate the family history of both parents. When speaking with relatives and long-time family friends ask them if they are aware of any unexplained or presumed cardiac young person deaths in your family tree.

·        Any unexplained death of a person under the age of 50 should be considered. Drowning and motor vehicle deaths, especially unexplained single vehicle accidents should be included.

·        A key piece of the puzzle for one Canadian family was the story  of an 18 year old relative that died from auditory startle – in Italy, in the 1920’s – more than 80 years before the diagnosis

Patient History Questions

1.      Has this child ever fainted during or shortly after physical activity?

2.      Has this child ever experienced extreme shortness of breath, extreme fatigue or “brown outs” during physical activity? More so or different than other children?

3.      Has this child ever fainted as a result of emotional distress or excitement?

4.      Has this child ever fainted from auditory startle such as an alarm clock, a door slamming or any unexpected noise?

5.      Has this child ever fainted from any cause?

6.      Has this child ever sustained an injury as a result of fainting?

7.      Have any of this child’s faints involved seizure like activity?

8.      Has this child ever been diagnosed with a seizure disorder such as epilepsy?

Family History Questions

1.      Is there any history of unexplained early death on either side (maternal/paternal) of this child’s family? Include parents, siblings, grandparents, aunts, uncles, cousins. Go back as many generations as possible.

a.      More than one early death in the family?

b.      Unexplained death of family members under age 50?

c.      Unexplained death of family members under age 35?

d.      Any deaths occurring during or after intense physical activity? Running, swimming, cycling, soccer, hockey.

e.      Deaths of undetermined origin or “presumed” cardiac origin

f.       Are there any SIDS deaths (Sudden Infant Death Syndrome) in the family?

g.      Are there any deaths attributed to seizure disorder or epilepsy?

2.      Is there any member of this child’s family that has a history of unexplained fainting or seizures?

I have answered “Yes” to one or more questions

If the answer to any of these questions is “yes” you will want to consult with the child’s physician. The more “yes” answers you have the more important it becomes to see a doctor. If you have a “yes” answer in each of the Patient History and Family History sections you may wish to inquire about a few simple, non-invasive tests such as ECG and Echocardiogram.

If there is suspicion of a possible cardiac rhythm disorder in any member of your family it is important to seek definitive answers. Most of these diseases are inherited through an autosomal dominant gene which means that they affect males and females equally and if one parent carries the gene on average half of their children will acquire the gene and the disease. Positively identifying one family member should begin a process of finding others. Once identified there are a number of available therapies that provide excellent protection against Sudden Cardiac Death.

Preventing the Leading Medical Cause of Paediatric Mortality

In his paper presented at the 2012 Canadian Cardiovascular Congress Dr. Andrew Krahn showed that in Ontario in 2008 almost 200 young people, under age 40, died suddenly from cardiac arrest resulting from an underlying Inherited Heart Rhythm Disorder (IHRD). These numbers are consistent with the reported incidence of sudden unexplained death amongst otherwise healthy young people from other countries and jurisdictions around the world. These numbers suggest that taken together the group of heart arrhythmias known as IHRD’s may be the leading medical cause of death in the paediatric population in developed countries.

The challenge in reducing the toll that these diseases take is that in most cases the patient is otherwise healthy making identifying at risk patients difficult. For roughly half of the young people that die from an IHRD related cardiac arrest the first indicator of the disease is death. Of the other half many present with warning signs in the weeks or months prior to their death. The most obvious warning sign is fainting (syncope) others include; palpations, racing heart, extreme shortness of breath, brown outs, and dizziness; with any of these episodes being triggered by physical activity, emotional distress, excitement, auditory startle or no obvious trigger.

Two strategies for identifying at risk individuals and protecting them from cardiac arrest are;

1.      Raising awareness of the warning signs of IHRD’s and encouraging parents, educators and minor sport officials to be diligent in following-up on syncope and other warning signs with a knowledgeable physician. This approach can be very effective for diagnosing disease in the half of the affected population that exhibit warning signs.

2.      Screening programs which include a pre-participation screening questionnaire and a resting ECG. This option is the most cost effective method for identifying patients in the half of the affected population that present with no obvious symptoms of disease.

Note: Most IHRD’s are heritable diseases transmitted by an autosomal dominant gene. Therefore the yield from any awareness or screening programs must be far greater than the total number of index patients identified. Dr. Joel Kirsh, Sick Kids, Toronto, suggests that he typically identifies five or six first degree relatives in addition to the index patient.

Once diagnosed, most patients with an IHRD can expect to live a long and productive life. Excellent prophylaxis from lethal tachyarrhythmia can be provided by implantable devices, pharmaceuticals, surgical procedures, lifestyle modification or a combination of the above.

PACED - Parents Advocating for Cardiac Education

PACED (Parents Advocating for Cardiac Education) is loosely structured group of families affected by IHRD’s advocating for greater awareness and identification of these diseases. PACED calls upon a number of cardiologists and electrophysiologists to advise us on how best to direct our efforts.  To date those efforts have been focused in two areas;

1.      Putting on seminars in our communities to educate; primary care physicians, educators, sport officials on understanding these diseases with a focus on recognizing the warning signs and responding to them.

2.      Developing and advocating for Bill 81, The Inherited Heart Rhythm Disorder Awareness Act, 2012. This legislation unanimously passed second reading in the Ontario Legislature and unfortunately died on the order paper when the provincial parliament was prorogued in October 2012. The bill would have been the first in Canada and the second in North America (Pennsylvania) to address awareness of IHRD’s

A Proposal for Finding Children Living with an IHRD

PACED is interested in implementing both an awareness and screening campaign running concurrently within a defined geography. One jurisdiction which we feel would be an ideal incubator for IHRD awareness is the Hamilton/Niagara/Haldimand/Brant LHIN (Local Health Integration Network). This LHIN features a manageable, yet statistically significant population, a respected teaching hospital and Children’s Hospital at McMaster University, a Cardiac Imaging Technicians program at Mohawk College and a number of organizations such as Heart Niagara that may be supportive of the initiative.  Equally important is potential for researchers from McMaster Children’s Hospital and McMaster University to become involved should one of the objectives be publication. By working with stakeholders in a defined region we hope to be able to produce measurable and quantifiable change in the recognition of IHRD’s and the prevention of paediatric sudden cardiac death.

The Awareness Campaign

Over a decade of working to raise awareness of IHRD’s we have identified three key target audiences that need to hear and act on the awareness message

1.      Primary Care Physicians. Much of the current understanding of IHRD’s has come about in this century with the first genes connected to Long QT being identified in 1995-96. Awareness campaigns are designed to have parents take their children to see a Family or ER physician anytime warning signs are observed. It is therefore critical to the success of a campaign that these key partners are equipped with the latest knowledge and tools for diagnosing and managing these patients

2.      Community Leaders in Education and Sport. The efficacy of an awareness campaign is contingent upon post syncope patients being seen by a physician. School Board Directors of Education and Superintendents and Minor Sport Organization Executives and Directors have the authority to mandate medical follow-up for all syncope and other warning signs. They also have the authority to implement and enforce return to play policies for post syncopal children. In our experience most are willing to do so once they understand what is at stake.

3.      Parents, Teachers and Coaches. Everyone that spends time with young people needs to know the warning sign and be prepared to either get the patient to a physician or advise a parent or guardian of the importance of doing so.

There is a vast array of communication options available to assist in spreading the IHRD awareness message to the target audiences. It may seem a little old fashioned, but bringing target audiences together for a brief (one to three hour) seminar with information delivered by Electrophysiologists and other subject matter experts and with ample time for dialogue, is still highly effective. A series of a dozen or more seminars, with three or four aimed at each target audience, would be the cornerstone of an awareness campaign.

This information could be supported and enhanced by development of a teaching video and other on-line tools. Stakeholder organizations could provide links to this information on their respective websites and direct members with questions or concerns to the online material. Another longstanding vision of PACED is funding for a traditional electronic media (television and radio) public service announcement (PSA) campaign.

The messaging in the awareness campaign will be designed to initially steer at risk children to their family physician and ultimately to the regional centre of excellence for paediatric cardiology where a comprehensive work-up and definitive diagnosis will be completed. A few of the measurable outcomes of this initiative will include:

1.      An increase in the number of patients being appropriately referred to the regional centre of excellence.

 

2.      A decrease in the number of patients being inappropriately referred.

3.      An increase in the diagnosis of IHRD’s in the regions paediatric population

4.      A decrease in incidence of sudden cardiac arrest in the paediatric population

A Canadian Pilot in ECG Screening

There is a worldwide movement toward ECG screening for teenagers, especially competitive athletes, for the purpose of identifying underlying heart rhythm disorders including both cardiomyopathies and channelopathies. To date we are unaware of any ECG screening projects conducted in Canada. It would be instructive to complete a pilot that includes enough subjects to give the study horsepower, a minimum of 1,000 and perhaps even double that number. From the very beginning we wish to state that we would want no more than one third of study participants to be competitive athletes. Genetic diseases do not recognize athletic ability and will visit any child without discrimination.

The most referenced screening program was completed in northern Italy and attributes an 89% decrease in sudden cardiac arrest deaths amongst competitive athletes in the region to a comprehensive screening program. A more recent and equally compelling study from Switzerland was presented at the 2012 ESC Congress in Munich. The study found 1:250 athletes screened ultimately received a diagnosis of a potentially lethal heart arrhythmia http://www.medicalnewstoday.com/releases/249534.php

In order to simplify the inclusion process we propose that study be conducted with subjects that have attained the age of majority. A university would be an ideal place to complete the study. The magnitude and the endpoints for a screening program would be determined by funding levels and in-kind contributions. The barrier that we have encountered when proposing ECG screening programs in Canada has been finding qualified Cardiologists willing and/or able to read the ECG’s. Many screening programs in the US and UK have cardiologists that donate their time to the program.

Both of the programs outlined above could be completed as research projects with publication being a core objective or they could be done simply as community awareness and screening programs. The first option would give the programs far greater credibility. The second option would allow for faster, lower cost implementation and perhaps a greater reach at the grassroots level. In either case children and families affected by IHRD’s will be identified.

The prevalence of IHRD’s is debated amongst Electrophysiologists with numbers above and below a rough mean of 1 in 500 being commonly used. If we use the mean it suggests that there are 28,000 Canadians under the age of 35 living with an IHRD.  There are likely two students in every typical Ontario High School living with an IHRD. Identifying these children and their affected family members and getting them the treatment that they require is the endpoint of this proposal.