The Role of the Death Investigator in Preventing Sudden Cardiac Death

When a child dies of a cardiac cause seize the opportunity to protect siblings and cousins

In some jurisdictions they are called Coroners in others Medical Examiners. Regardless of job title they have the potential to significantly reduce the toll – 7,700 per year - that Inherited Heart Rhythm Disorders take on young people in provinces and states across Canada and the US.

The Coroner’s responsibility begins with correctly identifying the cause of death.  For the first degree relatives of a child that died of sudden cardiac arrest caused by an underlying genetic heart rhythm disease the words “unknown” or “undetermined” or “possible cardiac” on the death certificate is too often their own death sentence. (this will sound like hyperbole …. until it happens to your family). Inherited structural diseases, the cardiomyopathies such as HCM and ARVC can normally be detected through routine examine due to the extensive remodelling of the hearts structure. Inherited electrical diseases such as Long QT and Brugada Syndromes are more challenging as the telltale electrical signature of the disease is now switched off.  Often molecular genetic testing is required to determine cause. There are currently at least 15 genes and many more mutations associated with the various heart rhythm diseases and with the intensity of research in the field that number grows almost monthly. When on autopsy a clear phenotypical cause of death does not present the coroner must use DNA testing to seek a genotype that suggests a likely cause.

Coroners and ME’s should be collecting and storing genetic material, blood and tissue, for all young person deaths - under the age of 35 would be ideal, 18 is too low. Every province and state should have a DNA Bank where death investigators can safely store and easily access genetic material. Collecting and testing DNA samples from infants where the death was classified as SIDS (Sudden Infant Death Syndrome) is essential. Published research estimates up to 30% of all SIDS death are caused by an arrhythmia gene.

Every time a young person dies of “cardiac” or “presumed cardiac cause” both sides, the ME's Office and the Family (with guidance from the family physician) should be pursuing DNA testing.  Typically if the family does not ask, the ME will not initiate genetic testing.  Typically if healthcare professionals do not present DNA testing as an option the family is unaware of its availability and unaware of its lifesaving potential for gene positive first degree relatives. This is why death investigators and family physicians should be simultaneously informing parents of their options.  If it takes two or three or ten years for the family to recognize the importance of genetic testing the genetic material should be readily available when the call comes.  Note:  The family physician may wish to call upon the services of a genetic counsellor to help the family understand the importance and significance of genetic testing and the implications of all of the possible results – positive, negative, undetermined or any number of shades of grey.

When the testing is complete and the results are positive for a known genetic association with a heart rhythm disease the real work begins, notification and testing of all first degree relatives.  Most primary heart rhythm disease are transmitted by an autosomal dominant gene – if one parent carries the gene on average half of the children will acquire the gene, with no gender bias.  Step one therefore is determine which parent carries the gene.  Note: I have worked with a family where one parent was positive for Long QT and the other for ARVC, rare but possible.  Step two is to test siblings and then aunts, uncles, cousins and grandparents on the affected side of the family. It is common to identify four, five or more affected first degree relatives for every index patient.  This is the silver lining; this is the gift that the deceased has given to his or her family.  From one child’s death comes the ability to identify many at-risk relatives and provide them with the appropriate prophylaxis for sudden death.  
 

Step two is not without challenges. Identifying and locating all of the potentially affected family members may be difficult, convincing each of them that they should get tested for a genetic disease that they have never heard of  may be near impossible.    “Catcallamungowhatapolywhatacardia….. You think I might have this wack-a-doodle disease and should get tested?”    At this point all of the stakeholders – the Parents of the deceased, the Family Physician, the Paediatric Cardiologist/Electrophysiologist, the Genetic Counsellor, the Coroner’s Office must work together to protect the living.

Often this process moves into areas where the moral/ethical issues around personal health information privacy come into play.  Navigating these waters can be tricky, rules must be followed and boundaries respected. On a very personal note I believe that when a child’s life hangs in the balance it is best to err on the side of protecting the child.  I hate it when children die with their parents privacy still intact.

The other critical challenge in this process is speed. The Family and the Coroner’s Office must move quickly to pinpoint the cause of death and then to locate and test the first degree relatives. It is difficult to say exactly what the appropriate time frame is for this often complex process to play out but I would submit that if seventeen and eighteen year old cousins die just over one year apart the system has failed both families. Anecdotally, I hear some version of this story far too often.

In every jurisdiction in North America there is significant room for improvement in the way death investigations of young people dying from cardiac causes are handled and followed-up.  If you are an advocate for cardiac arrest prevention in youth please be sure to include improving protocols for death investigations on your must-do list when speaking with provincial or state bureaucrats and legislators.  If you are a family that has lost a child to sudden cardiac death and are unclear what triggered the event push the healthcare and death investigation systems for answers.

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.

A Long QT Story from March 2013

A Plea to Parents and Family Physicians

The problem of misdiagnosis of Long QT Syndrome, often as a seizure disorder or epilepsy, has long been recognized and Electrophysiologists (EP's) have wrestled with how to solve the problem. Attached is a link to the abstract for Dr. Judith MacCormick's 2009 study of a cohort of 31 Long QT patients in New Zealand.

http://www.annemergmed.com/article/S0196-0644(09)00113-9/abstract

A parent reading this abstract might sum it up in one word, frightening. Four years on there has been marked improvement in the management of these patients but the misdiagnosis problem is far from being solved.

This past week I delivered an AED with training to a family in a town that is about a half hour drive from Toronto, Ontario, Canada, a part of the world where paediatric medicine is second to none. Their young teenager had just been diagnosed with Long QT type 2, and in addition to other therapies the patient's EP prescribed an AED for home and school. Multiple fainting/seizure episodes when the child was less than five years old had been misdiagnosed as a seizure disorder. Ten years on a near death event, triggered by physical activity, led to a proper diagnosis of Long QT Syndrome. Thankfully, the patient and the family cheated the odds for sudden cardiac death, but now they are faced with the challenge of ending a promising athletic career.

This close to (my) home story mirrors much of Dr. MacCormicks data from half a world away including a 10 year delay in diagnosis after an initial misdiagnosis of epilepsy. The greater concern of course is the significant number of preventable deaths in both the probands and their first degree relatives occurring during the long diagnostic delay, four in the NZ Study.

One of the common confounding factors is that fainting (syncope) associated with Long QT Syndrome and several other Inherited Heart Rhythm Disorders, often presents as seizure like activity. The likelihood that these types of events are neurological in origin is far greater than the likelihood that they are of a cardiac origin. However if a definitive neurological cause cannot be determined testing to rule out cardiac origin should be completed and interpreted by a physician that understands paediatric arrhythmia.

If you are the parent of a child, or know of a child or any person, that has ever been diagnosed with epilepsy or seizure disorder after experiencing one or more seizure/syncope episodes,   

• especially if the diagnosis was one of "idiopathic" epilepsy
• or if the diagnosis was made without an ECG and other testing to rule out cardiac origin
• or if the ECG was not interpreted by a Paediatric Cardiologist or EP
• or if the physician seemed in anyway non-committal or unsure in their diagnosis
• or if other first degree relatives have experienced seizure/syncope episodes
• or if your "instincts" tell you that the diagnosis should be revisited

you should work with the Family Physician to arrange for cardiac testing that will provide an accurate and up to date picture of the patients cardiac health

If you are a Family Physician that has a patient on your roster that meets any of the above criteria perhaps you would consider doing a new investigation of both the patient and other family members. Diagnosis and testing completed in the 20th century is particularly suspect and as the case noted above points out even a diagnosis from the 21st century can be incorrect and putting a patient at unnecessary risk of sudden death.

Whether you are family member or a Family Physician if you know of a person with a diagnosis of epilepsy or seizure disorder and it just doesn't seem to add up or sit well, consider circling back around to revisit possible cardiac origin. It may save a life, or two .....