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Transcript
26 Grenville Street
Toronto, ON. M7A 2G9
Telephone: (416) 314-4000
Facsimile: (416) 314-4030
26, rue Grenville
Toronto, ON. M7A 2G9
Telephone:
(416) 314-4000
Telecopieur: (416) 314-4030
Bonita M.B. Porter, B.Sc., Phm., B.Sc., M.D., CCFP
Chief Coroner for Ontario
Coroners insert this memo into Section 3 Reference - "Investigations General" of the Coroners Investigation Manual
Attached are guidelines (Appendix A) developed by a working group of
cardiologists, geneticists, genetic counsellors, laboratory directors, coroners and
pathologists. Please use it during the investigation of sudden premature cardiac
death, where it is thought that surviving relatives might be affected by the same
lethal condition as the decedent. Negotiations are continuing with the Ministry of
Health and Long-Term Care with regard to the final determination of
administrative re§>ponsibilityfor the extraction, cataloguing and storage of DNA
samples. However, pathologists and the regional genetics laboratories are free
to make their own arrangements pending this final agreement.
Questions regarding these guidelines should be directed to your Regional
Supervising Coroner.
Bonita M.B. Porter
B.Sc., Phm., M.Sc., M.D., CCFP
Chief Coroner for Ontario
BMBP:ks
Attachment
Guidelines for the Investigation of Sudden Cardiac Death: Coroner's
Investigation and Medicolegal Autopsy
Sudden unexpected cardiac death of persons under the age of 40 is not rare.
The incidence is estimated at 3.5 to 5.5 per million population per year, with
significant loss of years of potential life. Many causes of death can be
ascertained following scene investigation and complete autopsy, as well as
ancillary testing. In a small portion of medico-legal cases, however, a cause of
death may not be found. Recent molecular research has found that in such
deaths, with negative findings at autopsy, many of the decedents, or their firstdegree relatives tested positive for cardiac channel mutations or other heritable
cardiac conditions. The purpose of these guidelines is to assist coroners and
forensic pathologists in the appropriate investigation of cases of sudden death in
young individuals.
These guidelines apply to decedents greater than two years of age. They have
been written to aid in:
i. Standardizing autopsy practice for "negative" autopsies in
medicolegal cases in sudden cardiac death in young
individuals.
ii. Ensuring that appropriate ancillary testing is performed to
exclude other possible causes of death in these cases.
iii. Ensuring adequate material is retained should the
family/next of kin consent to genetic analysis of this material.
a. All previously asymptomatic or symptomatic· but undiagnosed
individuals under the age of forty years who suffer a sudden
witnessed collapse followed by death and where the scene and
circumstantial evaluation are negative for obvious causes of death
(e.g. drug overdose, etc.).
* Symptoms = syncope, exercise-related pre-syncope, palpitations,
seizure of unknown origin especially with familial pattern of seizures
b. Previously asymptomatic or undiagnosed symptomatic individuals,
who drown while swimming without phenomena such as poor
swimming skills, fatigue, boating accident, intoxication, etc.
A. Obtain all available medical records, including but not limited to, cardiac
investigations, and especially EKGs.
B. Obtain a detailed family history of any sudden unexplained or cardiac
death in first- or second-degree relatives (parents, grandparents,
siblings, cousins, etc.).
C. Complete a history of the events surrounding the death (including but not
limited to, antecedent symptoms of chest pain, dyspnea, palpitations,
pre-syncope), if available.
D. Carefully assess the circumstances and scene for the presence or
possibility of positional asphyxia, sudden unexpected death in epilepsy
(with established seizure diagnosis - see above), cardiac arrest during
exercise, sudden cardiac death during sleep, hypothermia,
hyperthermia, commotio cordis, or electrocution.
E. Issue a warrant for a forensic autopsy.
a. An external examination should be performed according to the
standard practice of forensic pathology.
b. These cases should be arriving within autopsy facilities as "sudden
and unexpected natural deaths". If however, there is concern that
the death may actually be an undifferentiated, criminally suspicious
death, the pathologist should refer to those guidelines and perform
the procedures as outlined for those types of deaths (see
Guidelines on autopsy practice for forensic pathologists, Oct. 2007,
second edition).
c. External examination (along with history) should exclude the
possibility of commotio cordis.
a. An internal examination of the head, neck, chest, abdomen and
pelvis should be performed according to the standard of practice of
forensic pathology.
b. In all cases, special attention should be paid to the heart with the
cardiac examination to include:
I.
III.
Examination of the Pericardium to exclude
hemopericardium.
Examination of the great arteries to assess their location and
to rule out the possibility of aortic dissection.
iv. Opening of the aorta and great vessels with inspection of the
valves for thrombi, as well as evidence of valvular stenosis
or regurgitation.
v.
vi.
Examination of the coronary arteries to include:
1. Cross sectioning through the main coronary arteries
to exclude atherosclerotic stenosis as well as,
coronary dissection.
2. Check for abnormal insertions, take-off and
specifically to examine if the coronary artery is located
between the great vessels
3. Examination of the proximal coronary ostia to exclude
an occlusive atherosclerotic plaque at the level of the
ostia.
Gross inspection and transillumination
thinning, fat infiltration, etc.
of the RV for RV
c. Cross-sections through the ventricles to assess for myocardial
infarcts, scars, hypertrophy and mural thrombi.
d. Obtaining the weight of the heart following removal of blood and
postmortem clot.
a. Representative samples of major organs and tissues should be
collected and retained in formalin.
b. Sections of the heart in cases of unexplained sudden death should
include the right ventricle (the section of the right ventricle should
include the anterior wall and the outflow tract so that
arrhythmogenic right ventricular dysplasia may be excluded), the
interventricular septum, the anterior and posterior left ventricles,
sections of the lung and kidneys (to evaluate for vascular disease).
c. To rule out myocarditis (which if detected may influence the need
for genetic testing) a minimum of 10 blocks of myocardium should
be examined histologically. Pathological criteria for arrhythmogenic
right ventricular dysplasia are still evolving and the diagnosis may
not be excluded based on one histological section of the RV outflow
tract. One of the tissue blocks should include the AV node.
d. Consideration should be given to obtaining a cardiac pathology
consu Itation.
a. In all cases, in addition to histology, vitreous fluid should be
obtained and submitted for biochemical analysis including
electrolytes, urea, creatinine, ketones and glucose.
b. Comprehensive toxicological testing should be performed by the
Centre of Forensic Sciences in all cases. Collection of the following
samples is required:
i. Blood from the heart
Blood from the femoral vessels
iii. Stomach contents
iv. Urine
v. Sample of liver
II.
5. Genetic studies for arrhythmogenic and other lethal heritable cardiac
disorders:
If the history and initial coroner investigation (see sections 1 - External
Examination and Section 2- Internal Examination) indicate there is a
reasonable suspicion that the death may be attributable to a cardiac
channel mutation, the pathologist should acquire appropriate tissue
samples.
Pathologists should collect and retain the usual tissue samples in formalin
and/or paraffin, but also are encouraged to explore more ideal samples for
DNA extraction (e.g. frozen highly cellular tissue such as 1cm3 of skeletal
muscle stored at -20°C). Samples should be overnight couriered to the
regional clinical genetics laboratory for DNA extraction, cataloguing and
storage (prior agreement with the laboratory and notification on a case-bycase basis of the laboratory is required).
If no cause of death is evident at the time of postmortem examination, or if
the heart appears to demonstrate congenital heart disease, consideration
should be given regarding retention of the heart and submission to a
cardiac pathologist. Retention of tissues (whole organs), however, should
only be made in consultation with the Investigating Coroner who in turn
will discuss this with the next of kin.
In conjunction with the Investigating Coroner, in cases where
a genetic cause of sudden cardiac death is either likely or
found at autopsy, establish contact with the next of kin and
provide information regarding avenues for clinical follow-up
as per prior regional arrangement.
ii. Advise the next of kin that tissues have been retained, and
will be made available on authorized request to the
appropriate genetic testing facility.
iii. Establish regional referral patterns for genetic assessment,
and provide information on these to the next of kin.
J.
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Morentin B, Aguilera B et al. Sudden unexpected non-violent death between 1
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Wren C, O'Sullivan JJ, Wright C. Sudden death in children and adolescents.
Heart. 2000 Apr;83( 4 ):410-3
Pollanen MS. Guidelines on autopsy practice for forensic pathologists.
Criminally suspicious cases and homicides. 2nd edition. 2007. Office of the
Chief Coroner, Ontario
Liberthson RR. Sudden death from cardiac causes in children and young
adults. N Engl J Med 1996; 334(16): 1039-1044
Behr E, Wood OA, Wright M et al.Cardiological assessment of first-degree
relatives in sudden arrhythmic death syndrome. Lancet 2003; 362 (9394):
1457-9
Tan HL, Hofman N, Van Langen 1Met al. Sudden unexplain
death:
heritability and diagnostic yield of cardiological and genetic examination in
surviving relatives. Circulation 2005; 112 (2): 207-13
Tester OJ, Ackerman MJ. Postmortem Long QT syndrome genetic testing for
sudden unexplained death in the young. J Am Call Cardiol 2007; 49(2): 240-6