Peter is a 32-year old pilot for a commercial airline. He is
married to Amita and they have two young children. Peter’s
father and older sister both died in their early 30’s from
heart attacks, although they had very healthy lifestyles. Peter
and Amita aim to live as healthily as they can: they eat well and
participate in several sporting activities, as do their children.
Peter’s family history suggests that he may be at risk of Hypertrophic
Cardiomyopathy (HCM). First described in the 1950s, this
condition leads to excessive heart muscle growth and a large
heart. Symptoms of the condition can often (but not always) include
chest pain, dizziness, loss of consciousness and breathlessness.
Its progression is usually slow, but there is also a significant
incidence of sudden death.
HCM is inherited as an autosomal dominant condition. That is,
a person with one copy of the mutated gene will develop HCM, and
each child of an affected parent is at 50% risk of also developing
the condition. Around 1 in every 500 people in the United Kingdom
is affected.
Once diagnosed, those carrying the mutation can be given a drug
therapy (or have surgery if they do not respond to drugs). Additionally,
they are advised to avoid violent exercise, prolonged standing
in hot conditions and hot showers or baths. They also require special
monitoring when under anaesthetic.
Peter is aware of his risk for HCM and is considering a DNA test.
What issues might arise if he decides to proceed? |
Professional
training 