Page 35 - PMCC on the Globe and Mail - 2016 Edition
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Canadian Olympic rowing team. “In certain physical exertion. ARVC is one also aims to create a registry
“That was really challenging inherited of these inherited conditions of families with inherited
cardiomyopathies, that we have good evidence cardiomyopathies.
for me because I was 20; I was although sudden where it is actually made worse
rebellious,†she remembers. death and by high-intensity physical Dr. Spears says that Ms.
“I had a lot of episodes where arrhythmias can activity.†Cartwright’s support has
I would do some pickup happen at any enabled them to create a large
basketball or other activities that time, they happen To control her abnormal database of families with
would land me in the hospital. more commonly heart rhythms, Ms. Cartwright inherited cardiomyopathies and
I didn’t want to accept it, and during physical had an internal defibrillator arrhythmias, and offer extensive
there was a lot of denial in exertion.†implanted. (“I’m on my fifth and screening to their relatives.
the beginning that this was as I’ve used them often,†she says.)
serious as it was.†Dr. Danna Spears, Though participating in rowing “When we’re able to identify
Cardiac Electrophysiologist was no longer possible after through a genetic test other
Ms. Cartwright was diagnosed her diagnosis, Ms. Cartwright people who might be at risk –
in 1996 with arrhythmogenic every 2,500 people,†says became a successful rowing the siblings and children of the
right ventricular cardiomyopathy Dr. Danna Spears, a Cardiac coach at Western, then at places people who are affected – from
(ARVC), a condition in which Electrophysiologist at the like Princeton University, there we extend the screening.
there is an abnormality in the Peter Munk Cardiac Centre Harvard University, and We call it cascade screening,â€
myocardium, the muscular wall (PMCC) and Ms. Cartwright’s Boston University, as well as for she says. Researchers can work
of the heart. ARVC is a genetic physician. “In certain inherited provincial and national teams in backward, looking for a parent
condition, which means it gets cardiomyopathies, although Canada. who is a carrier of the gene,
passed down from generation to sudden death and arrhythmias then look to grandparents and
generation through mutations in can happen at any time, they Then in 2014, Dr. Spears and great-aunts and great-uncles
a single gene or a combination of happen more commonly during Dr. Heather Ross, a Cardiologist to identify cousins and more
genes. (In Ms. Cartwright’s case, at the PMCC, diagnosed Ms. distant relatives who might also
ARVC was caused by a mutation Cartwright with heart failure, a be potentially at risk.
in the PKP2 gene, which she result of the progression of her
suspects came from her father’s ARVC. She will likely need a Dr. Spears says they also hope
side of the family.) heart transplant at some point to facilitate gene discovery
down the road. through CICAP because she
With ARVC, the proteins that believes they’ve only seen the
hold the cells of the heart muscle “It was pretty shocking to hear,†“tip of the iceberg†when it
together do not develop properly says Ms. Cartwright. “I think comes to the complexity of these
and are replaced with fatty when you get a diagnosis like diseases.
deposits. This causes abnormal that, it can be an identity you
heart rhythms that can increase take on. And so I’ve tried to cope “At the very beginning, very few
the risk of sudden death. with learning that about myself genes were identified to cause an
by not saying, ‘I have heart inherited and arrhythmogenic
“It’s a rare condition that failure,’ but saying, ‘I want to be cardiomyopathy. And now we
happens in about one in the healthiest person with this have many, many genes that
heart condition and keep this we know can cause this disease
02 so-called bad heart for as long as that puts you at risk for dying
I can.’ †suddenly,†she says. “If we are
able to identify large families
One of Ms. Cartwright’s who all have the same condition,
current passions is the but conventional genetic testing
Heather Cartwright Inherited hasn’t found anything, then that
Cardiomyopathy and is when we embark on looking
Arrhythmia Project (CICAP), a for new genes because clearly
groundbreaking initiative she it’s there, and the genetic tests
founded with Dr. Spears and Dr. we have today are limited by the
Ross. The project, which was genes we know.â€
established through a $500,000
gift from Heather, her sister Ms. Cartwright says one of the
Meredith and brother Brian, reasons she founded CICAP was
studies cardiac patients using with the hope that it could help
genetic testing and imaging prevent the deaths of young
to identify genetic biomarkers people who don’t know they
that could indicate causes have ARVC or other cardiac
for cardiomyopathies that diseases exacerbated by high-
run within families. CICAP intensity exercise.
01 Heather Cartwright “Every time there’s an event
had dreamed of rowing where there’s a young person
in the Olympics. who collapses and dies, it
crushes me,†she says. “I was very
02 Dr. Danna fortunate with the first incident
Spears is a cardiac and the subsequent incidents
electrophysiologist and that I didn’t die. But there are
Heather Cartwright’s so many kids who are not as
physician. fortunate.
“Over time, we might get to a
way to treat it and cure it. But
at this stage, we’re in life-saving
mode.â€
Winter 2017 33
