What is it like to live with hEDS, vEDS or cvEDS?

For those with hEDS, vEDS or cvEDS, your day-to-day life should not look too different from anyone else's. More care will need to be taken to avoid damage to your heart and connective tissue, so it’s best to avoid high-intensity, competitive or contact sports. Additionally, you may need to take medication to manage high blood pressure to reduce strain on your heart and blood vessels. If you have hEDS, you probably will benefit from regular physical therapy guided by an exercise physiologist or physiotherapist that understands hypermobility, to strengthen your muscles and stabilise your joints.

Preparation may also become a part of your routine, like wearing a medical alert bracelet, and having health information and contact details on your person in case of an emergency. You will also need to have an in-depth discussion with your general practitioner or cardiologist if you would like to become pregnant and/or grow your family. 

However, once steps like these become a habit, they will impact your life minimally.

Is it possible to not pass down hEDS, vEDS and cvEDS?

If you or your partner have hEDS, vEDS and/or cvEDS, it’s possible for your child not to inherit it. However, the likelihood of inheritance differs between both conditions due to the way they are passed down. 

If you have vEDS, there is a 50% chance your child will inherit it. hEDS has been seen to generally follow an autosomal dominant inheritance pattern too, so it can be assumed that there is also a 50% chance of passing the condition onto your child. For your child to have cvEDS, both you and your partner need to have the condition or be carriers of the condition. This makes it very unlikely that a child will be affected. 

If you are considering starting or expanding your family and suspect you may have one of these EDS types or be a carrier, genetic testing can help make the picture clearer. Additionally, you can also have prenatal tests completed to check if your child has either condition. Alternatively, you can choose to have only embryos that are negative for the genetic faults implanted to ensure that your child does not have the disorder - this is called pre-implantation genetic diagnosis.

Can Marfan syndrome be prevented?

As the mode of inheritance for Marfan syndrome requires one parent to have the condition for a child to potentially inherit it, steps can be taken to prevent or limit the likelihood of this occurring. If you are concerned about passing the condition on to your child, prenatal tests (testing the DNA of the foetus during the pregnancy) is possible for Marfan syndrome. Alternatively, you can choose to have embryos created and checked for the disorder before they are implanted through IVF. This is called ‘pre-implantation genetic diagnosis’. 

If your child is born with Marfan syndrome, you may not be aware of this for some time as the signs and symptoms generally do not become apparent until later in childhood or early adulthood. If the genetic mutation causing Marfan syndrome is known in you, your child can be tested at birth to determine whether they have inherited Marfan syndrome or not. If they have, then careful surveillance and management can begin immediately to prevent serious complications. 

How serious is familial hypercholesterolemia?

FH can be a serious condition if left untreated. Without treatment, FH can lead to heart attacks and even premature death. 

However, once it has been diagnosed, treatment and management of the condition can begin in earnest. This greatly reduces the likelihood of coronary artery disease and heart attacks.

What age does arrhythmogenic right ventricular cardiomyopathy occur?

As a genetic condition, ACM or ARVC occurs at conception. The condition then progresses as you age. However, you may not experience noticeable symptoms until your mid-20s or later. Your heart may still be affected though, so being aware of your body and seeking medical assessment for symptoms, however minor, are important for getting an early diagnosis. In many people, the diagnosis is now made through genetic testing. Increasingly, the identification of a genetic mutation in a loved one who has passed away suddenly due to cardiac arrest can then identify relatives who have no symptoms but who are at risk. Regardless of how old you are when you are diagnosed, expert care by a service that understands ACM can help reduce risks of cardiac events including sudden death.

What should I avoid with prolonged QT intervals?

It has been long established that exercise is good for your heart. However, intensive and competitive exercise can trigger your arrhythmia if you have LQTS. Therefore, it’s best to choose lower-intensity exercise and limit physically taxing situations.

Additionally, when considering what exercise to enjoy, bear in mind that fainting (syncope) can be a symptom of LQTS. Therefore, it’s best to choose exercise where you will not be injured or harmed if you faint during it. For instance, swimming or bike riding are not recommended. Instead, try yoga which has the added benefit of helping to reduce stress and anxiety, which can also trigger LQTS episodes.

Can you exercise with long QT syndrome?

It has been long established that exercise is good for your heart. However, intensive and competitive exercise can trigger your arrhythmia if you have LQTS. Therefore, it’s best to choose lower-intensity exercise and limit physically taxing situations.

Additionally, when considering what exercise to enjoy, bear in mind that fainting (syncope) can be a symptom of LQTS. Therefore, it’s best to choose exercise where you will not be injured or harmed if you faint during it. For instance, swimming or bike riding are not recommended. Instead, try yoga which has the added benefit of helping to reduce stress and anxiety, which can also trigger LQTS episodes.

Is hypertrophic cardiomyopathy genetic?

HCM is just one of many genetic heart conditions, but it is one of the more common types. It is passed down through parents to children as an autosomal dominant condition, meaning there is a 50% chance the child will inherit it. Genetic testing, including before or after conception, can help you learn if you or your child have the condition.

Can I live a normal life with dilated cardiomyopathy?

The majority of DCM treatment is non-invasive. Typically, you will need to take some form of medication regularly, as well as slightly adjust your lifestyle. On occasion, procedures may be required, but a service with expertise in inherited DCM will always choose the least-invasive effective treatment possible to limit the impact on your life.

Is dilated cardiomyopathy hereditary?

DCM can be hereditary (inherited), meaning it is passed down in families. However, there are many causes of DCM, and the genetic (inherited) form is only one of these. In patients where no cause of DCM is found, the diagnosis of ‘idiopathic dilated cardiomyopathy’ is often made. In other patients, DCM is thought to be caused by diabetes, illicit drug use, alcohol dependence and pregnancy. 

However, genetic testing can now reveal the presence of a mutation that makes the diagnosis of genetic (inherited) DCM. Even in individuals where the cause of DCM was thought to be alcohol, chemotherapy or as a result of pregnancy, genetic testing can identify an underlying mutation that made the individual susceptible to DCM.

In summary, we are increasingly identifying individuals that were previously thought to have another cause of DCM, but actually have a genetic (inherited) form.

Is CPVT always genetic?

Heart conditions can be acquired or genetic. In some cases, like dilated cardiomyopathy, you can have patients who have inherited the condition, while others have acquired it through illness, exposure to certain chemicals or medications, or lifestyle choices. However, CPVT is purely a genetic condition. 

When you are conceived, you receive genes from your parents. This is when genetic mutations can be passed on. However, your genes can also mutate spontaneously at this time. This is why you may be the only person in your family to have CPVT or any symptoms of the condition.