Key Stage 4 Hypertrophic cardiomyopathy
A heartfelt dilemma
Task sheet
Hypertrophic cardiomyopathy (HCM)
The roles:
Around one in 500 people have HCM. The condition damages the heart
muscle. It is caused by faulty genes.
Some people with HCM have no symptoms. Others feel breathless. They
may have chest pains, blackouts, or palpitations. At its very worst, HCM
causes sudden death.
Your task
A heart charity is recruiting actors. It plans to make a film for people with
HCM, to help them learn about their condition. Your team is at the
auditions. Will you get the job?
Give everyone a role card. Use the cards to help you plan and practise a
five-minute film. In your film, include information about:





how HCM is inherited
the effect of faulty genes on heart function
a new test for HCM
a possible new treatment for HCM
deciding who to tell if you have HCM, and why





17-year old Amy, who has just been diagnosed with HCM
Kate, Amy’s mum
Ellie, Amy’s pregnant sister
Chris, Amy’s doctor
Joe, a genetic counsellor
Key Stage 4 -
Key Stage 4 -
Hypertrophic cardiomyopathy
hypertrophic cardiomyopathy
A heartfelt dilemma
A heartfelt dilemma
Peer assessment
Peer assessment
Tick the table to show what the role play covered.
Tick the table to show what the role play covered.
Issue
Did the group
address this
issue?
Did the group
make it easy to
understand?
Issue
How HCM is inherited
How HCM is inherited
The effect of faulty genes on
heart function
The effect of faulty genes on
heart function
A new test for HCM
A new test for HCM
A possible new treatment for
HCM
A possible new treatment for
HCM
Deciding who to tell if you
have HCM, and why
Deciding who to tell if you
have HCM, and why
Did the group
address this
issue?
Did the group
make it easy to
understand?
1. What were the two best things about the performance?
☺
☺
1. What were the two best things about the performance?
☺
☺
2.
2.
Suggest one improvement.
Suggest one improvement.
Role 1
Role 2
Name: Amy
Age: 17
Occupation: Student
Hobby: Playing sport
Name: Kate
Age: 49
Occupation: Teacher
Hobby: Running
You collapsed last month during a sports match. A first aider did
CPR, keeping you alive until you reached hospital.
You are Amy’s mum. You go with Amy to the hospital doctor. You
have two questions:
At hospital, you had several tests. The tests showed that part of
your heart muscle is thicker than normal. Your heart uses energy
inefficiently. It must work harder than normal to pump blood
around your body.
Hospital doctors think you might have HCM. But they are not sure.
They booked you in for some tests, including an MRI scan and an
echocardiogram. You are returning to hospital for these tests.
You have lots of questions:
 How do the tests show if I have HCM?
 Is there any treatment?
 How do faulty genes affect the function of my heart?
The tests show that you have HCM. Your doctor is wondering
whether to test blood from other members of your family to see if
they are likely to have HCM. You visit a genetic counsellor.
You have one question for the genetic counsellor.
 How did I inherit HCM?


Will Amy collapse again?
Should she stop playing sports?
You are worried that other family members have HCM. You go with
Amy to see the genetic counsellor. You discuss who to tell about
Amy’s HCM, and whether they should they have tests for HCM:

Might Amy’s 15-year old brother, Jack, have HCM? Who
decides if he has the tests – him or me?

I’m 49. Wouldn’t I know by now if I had HCM? Do I need the
tests?

I’m worried about my partner, Amy’s step dad. Could he
have HCM? Is it infectious?

What about my ex, Amy’s and Jack’s dad? He gave them half
their genes. Is it his fault?
Role 3
Role 4
Name: Ellie
Age: 25
Occupation: Carpenter
Hobby: Watching TV soaps
Name: Chris
Age: 35
Occupation: Hospital doctor specialising in HCM
Hobby: Singing in a band
You are Amy’s pregnant older sister. You visit the genetic
counsellor with Amy and your mum.
Use this information to help you answer Amy and Kate’s questions.
You have several questions:


If I have HCM, will my baby have it too? Can the condition
travel in my blood to the foetus?
Should I tell my partner, the baby’s father, that Amy has
HCM? Does he need the test?
You have also printed a diagram from the Internet. Can the genetic
counsellor explain it to you?
Faulty genes and the function of the heart
A person with HCM has a change (mutation) in one of 13 genes. The
mutation makes heart muscle tissue develop abnormally. The muscle is
too thick. The heart uses energy inefficiently. It must work harder to
pump blood.
Living with HCM
There is no cure for HCM. It is risky for some people with HCM to do
energetic sports. This is because their heart might suddenly beat too fast
and chaotically, and then stop beating.
A person at high risk of sudden death may have an ICD fitted under the
skin. If the device detects dangerous changes in heart rhythm it delivers
an electric shock to ‘reset’ the heart.
H = HCM
h = healthy
sex cells from one
parent
h
h
sex cells
from
other
parent
h
H
hh
hh
Hh
Hh
Other medical treatments can control other HCM symptoms. Different
people need different medicines, depending on their symptoms.
Oxford scientists are developing a new treatment for HCM. They had an
idea that an old medicine, that was used for another heart problem,
might help an HCM heart use energy more efficiently. They are now
testing the treatment. So far, the evidence suggests that it works.
Role 5
Name: Joe
Age: 28
Occupation: Genetic counsellor
Hobby: Photography
The Punnett diagram shows that a child who has one parent with HCM
has a 50% chance of inheriting the condition.
Testing for HCM
Oxford scientists have developed a new blood test for HCM. If Amy has
HCM, there is a 50% chance that the test will detect the mutation that
causes the condition.
Blood tests would show if other family members have the same mutation.
The blood test is cheaper and simpler than other tests. The test is only
useful for family members if Amy’s test is positive.
Deciding who to test for HCM
As a genetic counsellor, you can help Amy decide who to tell about her
HCM. You can also help family members decide whether or not to be
tested for the condition.
There are many things to consider when making these decisions.
Scientific considerations
 HCM is inherited. It is not infectious.

Inheriting HCM
A person with HCM has a change (mutation) in one of 13 genes. The
mutated gene is passed on from parent to child. The mutated version of
the gene is dominant. This means that a child can inherit HCM from just
one parent.
Doctors normally start by testing only close blood relatives of an HCM
sufferer. These include parents, siblings and children.

A few people with HCM have no symptoms. They might have the
condition without knowing it, and pass it on to their children.
H = HCM
h = healthy
Ethical considerations
 Is it ever morally acceptable not to tell close relatives if you have
HCM?
sex cells from one
parent
h
h
sex cells
from
other
parent
h
H

Will a parent with a positive test result feel guilty? How about a
sibling with a negative test result?
hh
hh

How might a relative cope if they find out they have HCM?
Hh
Hh

At what age is a relative capable of making their own decision
about whether to be tested?
Key stage 4 Hypertrophic cardiomyopathy
A heartfelt dilemma
Film help sheet
Character
Question
Amy
How did I inherit HCM?
Kate (Amy’s
mum)
Might my son Jack have HCM? He’s 15. Who
decides if he has the tests?
Kate
I’m 49. Wouldn’t I know by now if I had
HCM? Do I need the tests?
Kate
I’m worried about my partner, Amy’s step
dad. Could he have HCM? Is it infectious?
Kate
What about my ex, Amy and Jack’s dad? He
gave them half their genes. Is it his fault?
Ellie (Amy’s
pregnant sister)
If I have HCM, will my baby have it too? Can
it travel in my blood to the foetus?
Ellie
Should I tell my partner, the baby’s father,
that Amy has HCM? Does he need the test?
Which character
will answer?
What the character who answers will say