Hypertrophic Cardiomyopathy (HCM)

Key Stage 4 -  a possible new treatment for HCM Hypertrophic cardiomyopathy  deciding who to tell if you have HCM, and why A heartfelt dilemma

Task sheet

Hypertrophic cardiomyopathy (HCM)

Around one in 500 people have HCM. The condition damages the heart muscle. It is caused by faulty genes. The roles: Some people with HCM have no symptoms. Others feel breathless. They may have chest pains, blackouts, or palpitations. At its very worst, HCM  17-year old Amy, who has just been diagnosed with HCM causes sudden death.  Kate, Amy’s mum Your task  Ellie, Amy’s pregnant sister 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  Chris, Amy’s doctor auditions. Will you get the job?  Joe, a genetic counsellor 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 Key Stage 4 - ☺ Hypertrophic cardiomyopathy 2. Suggest one improvement. A heartfelt dilemma

Peer assessment Key Stage 4 - hypertrophic cardiomyopathy Tick the table to show what the role play covered. A heartfelt dilemma Did the group Did the group Issue address this make it easy to Peer assessment issue? understand? How HCM is inherited Tick the table to show what the role play covered.

The effect of faulty genes on Did the group Did the group heart function Issue address this make it easy to issue? understand? A new test for HCM How HCM is inherited

A possible new treatment for The effect of faulty genes on HCM heart function

Deciding who to tell if you A new test for HCM have HCM, and why A possible new treatment for HCM

1. What were the two best things about the performance? Deciding who to tell if you ☺ have HCM, and why 1. What were the two best  Is there any treatment? things about the  How do faulty genes affect the function of my heart? performance? ☺ 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. 2. Suggest one improvement.  How did I inherit HCM? Role 1

Name: Amy Age: 17 Occupation: Student Hobby: Playing sport

You collapsed last month during a sports match. A first aider did CPR, keeping you alive until you reached hospital.

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? Role 2

Name: Kate Age: 49 Occupation: Teacher Hobby: Running

You are Amy’s mum. You go with Amy to the hospital doctor. You have two questions:

 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 Name: Chris Age: 25 Age: 35 Occupation: Carpenter Occupation: Hospital doctor specialising in HCM Hobby: Watching TV soaps Hobby: Singing in a band

You are Amy’s pregnant older sister. You visit the genetic Use this information to help you answer Amy and Kate’s questions. counsellor with Amy and your mum. Faulty genes and the function of the heart You have several questions: A person with HCM has a change (mutation) in one of 13 genes. The mutation makes heart muscle tissue develop abnormally. The muscle is  If I have HCM, will my baby have it too? Can the condition too thick. The heart uses energy inefficiently. It must work harder to travel in my blood to the foetus? pump blood.  Should I tell my partner, the baby’s father, that Amy has Living with HCM HCM? Does he need the test? 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 You have also printed a diagram from the Internet. Can the genetic and chaotically, and then stop beating. counsellor explain it to you? A person at high risk of sudden death may have an ICD fitted under the H = HCM skin. If the device detects dangerous changes in heart rhythm it delivers h = healthy an electric shock to ‘reset’ the heart. sex cells from one parent Other medical treatments can control other HCM symptoms. Different h h people need different medicines, depending on their symptoms. Oxford scientists are developing a new treatment for HCM. They had an sex cells h hh hh idea that an old medicine, that was used for another heart problem, from might help an HCM heart use energy more efficiently. They are now other H Hh Hh testing the treatment. So far, the evidence suggests that it works. parent Role 5

Name: Joe The Punnett diagram shows that a child who has one parent with HCM Age: 28 has a 50% chance of inheriting the condition. Occupation: Genetic counsellor Hobby: Photography Deciding who to test for HCM As a genetic counsellor, you can help Amy decide who to tell about her Testing for HCM HCM. You can also help family members decide whether or not to be Oxford scientists have developed a new blood test for HCM. If Amy has tested for the condition. HCM, there is a 50% chance that the test will detect the mutation that causes the condition. There are many things to consider when making these decisions.

Blood tests would show if other family members have the same mutation. Scientific considerations The blood test is cheaper and simpler than other tests. The test is only  HCM is inherited. It is not infectious. useful for family members if Amy’s test is positive.  Doctors normally start by testing only close blood relatives of an HCM Inheriting HCM sufferer. These include parents, siblings and children. 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  A few people with HCM have no symptoms. They might have the the gene is dominant. This means that a child can inherit HCM from just condition without knowing it, and pass it on to their children. one parent. Ethical considerations H = HCM  Is it ever morally acceptable not to tell close relatives if you have h = healthy HCM? sex cells from one parent  Will a parent with a positive test result feel guilty? How about a h h sibling with a negative test result? sex cells h hh hh from  How might a relative cope if they find out they have HCM? other H Hh Hh parent  At what age is a relative capable of making their own decision about whether to be tested? Should I tell my partner, the baby’s father, Ellie Key stage 4 - that Amy has HCM? Does he need the test? Hypertrophic cardiomyopathy A heartfelt dilemma

Film help sheet

Which character Character Question will answer?

Amy How did I inherit HCM?

Kate (Amy’s Might my son Jack have HCM? He’s 15. Who mum) decides if he has the tests?

I’m 49. Wouldn’t I know by now if I had Kate HCM? Do I need the tests?

I’m worried about my partner, Amy’s step Kate dad. Could he have HCM? Is it infectious?

What about my ex, Amy and Jack’s dad? He Kate gave them half their genes. Is it his fault?

Ellie (Amy’s If I have HCM, will my baby have it too? Can pregnant sister) it travel in my blood to the foetus?