Download Ontario introduces protocol for autopsies in unexplained sudden

Ontario introduces protocol for autopsies
in unexplained sudden deaths
TORONTO — A new protocol was introduced Tuesday for autopsies that investigate
unexplained sudden cardiac death in young people aged two to 40 in Ontario, and it's
expected to influence how autopsies are conducted in future across the country.
The guidelines from the Office of the Chief Coroner of Ontario were initiated by the
University of Ottawa Heart Institute and, in part, are aimed at checking the heart for a
commonly overlooked disease that might also afflict family members.
Dr. Michael Gollob, director of the Inherited Arrhythmia Clinic and Arrhythmia
Research Laboratory at the Heart Institute, said many coroners and pathologists are not
familiar with arrhythmogenic right ventricular cardiomyopathy, as the traditional autopsy
of older victims of heart disease assesses the left ventricle.
"These guidelines now mandate that the right ventricle be assessed in young victims of
sudden death, specifically to look for the pathologic characteristics of this condition," he
said from Ottawa.
The human heart has four chambers. The two lower chambers, the left and right
ventricles, are responsible for pumping the blood. ARVC causes electrical signals that
drive the heart beat to become irregular (arrhythmia).
Gollob said the second major component of the guidelines mandates the storing of tissue
for future DNA analysis.
There are at least four genetic diseases that affect only the electrical properties of the
heart, and there are no structural defects that can be detected in an autopsy, he explained.
"So when a young person dies from one of these four purely electrical diseases of the
heart, the autopsy will show a perfectly normal appearing heart. And in those situations,
it is valuable to put aside tissue that may be used at some point in the future for genetic
analyses," he said.
Dr. Andrew McCallum, chief coroner of Ontario, said the protocol adds an "ability to do
what's called a molecular autopsy, to look at the level of the DNA to see if there's a
genetic abnormality."
"The goal of testing, obviously, is to help the living. So we're interested in providing the
families of these persons with the information they need, and the care they need."
The protocol was welcomed by Susan Csatari, a resident of Mississauga, Ont., whose son
Stephen died at age 20 during a run when he was a third-year university student studying
in the south of England.
"It's a key and very welcome change for families like ours, especially those who have
suffered the tragedy of not knowing what their child died from," she said in a telephone
interview from New Jersey, where she was on vacation.
Stephen collapsed and died at the side of the road in 2002, and the family subsequently
found out he had ARVC.
"We are one of the fortunate families who were given a diagnosis very early," Csatari
said, noting that a pathologist insisted on sending the heart to an expert in London who
identified ARVC.
"We were told we all had to be tested upon our return to Canada and that resulted in
finding out that my husband has the disease. Although he had never had any symptoms,
he's followed very closely and is now on cardiac medication to protect him from this
potentially fatal arrhythmia."
In addition, Csatari said her daughter is monitored and takes medication to protect her,
because the disease can develop over time.
Csatari is involved with the Canadian Sudden Arrhythmia Death Syndromes Foundation,
and said she has met several families who lost children or teenagers, but they were never
given a diagnosis.
It was only through their own efforts or other circumstances that they later found out that
their other children were also affected with cardiac disease, she said.
The new protocol was announced as the family of a 19-year-old hockey star who died
unexpectedly in February issued a statement saying that an autopsy detected an
underlying heart condition.
Mickey Renaud, captain of the Windsor Spitfires of the Ontario Hockey League, died of
hypertrophic cardiomyopathy, the family said.
Gollob said that's a structural disease of the heart that would have been detected by the
standard autopsy looking at the left ventricle.
McCallum said sudden cardiac deaths among young people aren't common - there are
three to five cases per million population in Ontario. But that amounts to about 60 to 70
cases per year and "so we certainly want to detect those cases," he said.
Gollob said he predicts that every province in Canada will adopt guidelines similar to the
Ontario protocol.