Page 19 - PMCC on the Globe and Mail - 2016 Edition

when most new
moms bring their
baby home from the
hospital, their biggest
concerns are getting
used to changing
diapers and trying
to get a little sleep
in between feedings.
But just days after
giving birth to her first
child, Chantel Bleau
of windsor, ont., felt
like she was having a
heart attack.
Chantel, who was 24 at the time,
says she had first started to feel
symptoms – a tightness in her
chest – while in labour.
“I was in labour [a] very long
[time], about 18-and-a-half
hours, and I kept saying, ‘I’m not
feeling well,’ and everyone kept
saying, ‘You’ve been in labour a
long time; you’re probably just
sore,’ ” says Chantel, now 33 and
a mother of two. She was sent
home with her husband and
newborn, Sophie, but the chest
discomfort didn’t improve.
“It almost felt like someone had
punched me really hard in the
chest,” she says. “I was having
trouble breathing, going up and
down my stairs, but again, I
thought, I just had a baby two
days ago. And then it got to the
point where my husband had to
bring me into the hospital.”
Chantel was admitted to
the cardiac unit at her local
hospital, and after a battery
of tests the cardiologist on
call determined that her
symptoms were not a heart
attack but a heart arrhythmia.
Chantel was diagnosed with
atrial fibrillation (AFib), a
condition involving an irregular
heartbeat. It’s a condition that
affects approximately 350,000
Canadians but is usually more
common in older people.
Although atrial fibrillation itself who started the process to give
is not usually life-threatening, it us all more education and more
can contribute over time to the
weakening of the heart muscle,
severe symptoms limiting activity
and exercise, or the development
of a life-threatening event like a
stroke.
“It was terrifying, to be
completely honest. I was a brand-
new mom and that’s what I was
Winter 2017
focusing on and then I had that
thrown in there,” says Chantel.
It was a traumatic event that
would prove difficult to forget.
“Even now, I get a little bit of
heartburn and I get nervous,” she
says. “It never goes away and it’s
been almost six years.”
But it was also an experience
that led to a medical discovery.
Chantel’s atrial fibrillation was
revealed to be an inherited
arrhythmia caused by a single
gene common to several members
of her family, a discovery that
has furthered medical science’s
understanding of the genetic
roots of heart disease.
Putting the
puzzle pieces
together
Wanda Bleau, Chantel’s mother,
remembers first feeling chest
discomfort as a busy mom of
three in her early 30s.
“I was always short of breath
and always tired and my chest
always felt heavy,” says Wanda,
now 54, also from the Windsor
area. “But at that time, I thought
it was more anxiety because it
was around the holiday time and
I was rushing around buying
teachers’ gifts and that kind of
thing.”
After a visit to the doctor’s
office, Wanda was sent to the
hospital to have tests, but she says diseases – those in which multiple
nothing really came of it. “Back
then, you went to doctors, you
had tests done. Nobody really got
too excited about it, and neither
did I.”
Her symptoms continued on
and off, but her true diagnosis
didn’t come for another 23 years.
“I have to thank Chantel for
it. Because it started with her,”
says Wanda. “She was the one
awareness of what’s going on.”
Chantel had been referred to
Dr. Lorne Gula, a cardiologist at
University Hospital in London,
Ont., who began asking questions
about whether anyone else in
the family had symptoms similar
to hers. Chantel noted that her
mother had been plagued by an
irregular heartbeat for years. “So
then it was my mom and then
we started following that along,
and it was her brothers and my
grandma – my mom’s mom –
and he said, ‘Wait a minute, I’m
starting to see a pattern,’ ” says
Chantel.
Dr. Michael Gollob is a that can sometimes go unnoticed
cardiologist, scientist and Chair for years, because while some
of the Peter Munk Centre of people experience symptoms,
Excellence in Molecular Medicine others do not. Symptoms can
at the Peter Munk Cardiac include feeling that your heart
Centre (PMCC). He first became is racing or “fluttering,” chest
aware of the Bleau family when pain or discomfort, shortness of
he was contacted by Dr. Gula, breath or extreme fatigue. Atrial
who knew that Dr. Gollob did fibrillation can be diagnosed
genetic research in the area through devices such as an
of cardiac arrhythmias and electrocardiogram (ECG), a
cardiomyopathies. Holter monitor (a portable ECG
machine carried around for 24
“I reviewed the cases and it was hours or longer to record your
clear there was commonality to heart rhythm) and stress tests
their clinical picture, and we said, (running tests on your hearts
‘Let’s try and discover the genetic while exercising on a treadmill).
cause,’ ” says Dr. Gollob.
Medication can be used to
The family agreed to take part control AFib, and healthy lifestyle
in a genetic study helmed by Dr. choices are also an important
Gollob. “For me personally, it’s way to avoid complications in
education,” says Chantel. “I have patients with AFib. High blood
two small kids, and if this is a pressure, high cholesterol,
hereditary thing I want to make diabetes and obesity can worsen
sure they are taken care of. So I the outcome for patients affected
was completely on board.” by the condition, so addressing
any risk factors, maintaining a
Genetic analysis of the family healthy weight and engaging
revealed that five family members in regular exercise can reduce
– Chantel and Wanda, plus risk. However, overindulgence
Chantel’s two sisters and one of in endurance exercise can also
Wanda’s brothers – share a defect trigger development of atrial
in a novel gene not previously fibrillation in some individuals.
known to cause atrial fibrillation:
the atrial-specific myosin light Chantel, Wanda and Ashley
chain gene, or MYL4. The Bleau (Chantel’s sister) all say
findings were published in they try to maintain a healthy
the medical journal Nature diet and exercise regime to
Communications in April 2016. control their atrial fibrillation,
but the lack of energy and fatigue
Dr. Gollob points out that there associated with the disease can
are two main types of genetic make it challenging. Ashley, 26,
was found to carry the MYL4
genetic differences occur along gene defect after being tested
one or more molecular pathways, last year as part of the study. She
incrementally promoting a only recently began experiencing
disease process, and those in symptoms of atrial fibrillation,
which one rare genetic variant is and she says the condition now
responsible. “The type of genetic impacts her ability to exercise.
disease that we found in the
Bleau family is where a single “I was pretty active before all
gene is enough, if it’s defective, this, and I can’t even go to the
to cause a bad clinical condition,” gym anymore for more than five
he says. minutes,” says Ashley. “I just can’t
control my heart rate. It gets too
The Bleau family’s genetic high and I can’t bring it down,
connection is unusual, adds so now I just do walks – that’s
Dr. Gollob, because they have a about it.”
muscle disease of the heart that
is specific to the top chambers Chantel says she has struggled
of the heart, the atria. “A genetic to keep her weight under control,
disease of that form has never and as the mother of two active
been described that is specific children, it can be tough to focus
to the top chambers,” he says. on her own needs. “After two
“There are genes specific to the kids, I’m doing the best I can,” she
bottom chambers of the heart says. But knowing that her atrial
[ventricles], but this was the first fibrillation has a genetic cause
that described the top chambers. has helped her understand her
At this point, we think it’s not condition better.
a common cause for AFib, but
we’re attempting to quantitate “Being educated about it has
how many people have this gene helped me deal with it personally,”
as their cause.” she says. “In my generation, it’s
talked about so much: how to
Atrial fibrillation is a condition
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