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.

Mandatory Arrhythmia Awareness in all CPR Classes

This year, like every year, more than 7,700 people age 35 and under will die suddenly of cardiac causes in the US and Canada. Roughly half of them will experience fainting episodes or exhibit other warning signs in the months, weeks and days prior to their death. If these sentinel events are recognized and acted upon a great number of at risk young people will not die.  Several of the diseases that underlie paediatric Sudden Cardiac Arrest are genetic, with a dominant gene transmission pattern, and therefore many asymptomatic first degree relatives might also be saved.

All properly taught certification level CPR training includes a discussion on Heart Attack and Stroke warning sign recognition and management. It is time to include a discussion on recognizing and responding to the warning signs of paediatric heart arrhythmia diseases in every CPR class with extra attention being given to the discussion for classes being taught to educators, coaches and any adults that are responsible for the well-being of children.

The basic warning signs of inherited heart rhythm disorders are as follows:

·        Fainting (syncope) or seizure during or shortly after physical activity, especially if it happens repeatedly

·        Fainting (syncope) or seizure resulting from emotional excitement, emotional distress, or auditory startle

·        Family history of unexpected sudden death during physical activity or during a seizure, or any other unexplained sudden death of an otherwise healthy young person

Other warning signs include; brown outs (near fainting); a strong sensation of palpitation or racing heart; extreme shortness of breath (new) with exertion - more so than other children.

The recommended response to all loss of consciousness fainting is to Call 911, even if the child quickly regains consciousness and “seems fine”. For both fainting and all other warning signs parents should be advised of the event, provided with information (a pamphlet or a link to a web page) on heart rhythm disorders and encouraged to consult a physician that is trained to recognize paediatric arrhythmia. 

Every CPR Training Agency, both not-for-profit and private, should be required by state or provincial law to include a discussion of the warning signs of Paediatric Inherited Heart Rhythm Disorders in every class.  Special attention should be given to the topic when the audience is educators, coaches or any other group that works directly with young people.  Already eight states have passed or are considering legislation that will make awareness training of paediatric heart rhythm disorders mandatory for coaches, sport officials and physical education teachers. We need every state and province to mandate this training as a required component of every CPR class.

The evidence to support the inclusion of Arrhythmia Awareness in every CPR class is abundant und unequivocal. The International Liaison Committee on Resuscitation (ILCOR) was asked to consider a recommendation to include Arrhythmia Awareness in all Basic Life Support training classes as part of the 2010 BLS Guideline Recommendations.  They chose a softer position regarding the follow-up by coroners of all potentially cardiac related deaths of young people. Even if ILCOR chooses to ignore the evidence state and provincial legislators can still choose to act in the best interest of at-risk young people.

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 .....