Ehlers-Danlos syndrome signs and symptoms for these three types can become apparent soon after birth. However, in most people the signs and symptoms develop as they get older. Because there is so much variability, even within the same family, it is not always a clear diagnosis. Therefore, specialised genetic testing is the best and often the only way to confirm a diagnosis if you, your general practitioner or cardiologist is suspicious that you may have vEDS or cvEDS. There is no genetic test available for hEDS as of yet.

To help you prepare for this discussion, it can be useful to document related symptoms, conditions and family health histories and bring this information along. Then, based on their professional opinion, your doctor can suggest initial testing, like an ECG, to provide further weight to an Ehlers-Danlos syndrome diagnosis. This can then be confirmed through genetic testing for Ehlers-Danlos syndrome.

While those with a Marfan syndrome diagnosis are recommended to avoid high-intensity physical activity and contact sports due to the increased risk of damage to their aorta and heart, a wide range of exercise and sports can still be enjoyed. 

As regular exercise can support your heart health, the aim is to choose sports that allow you to enjoy the benefits of physical activity without increasing the strain on your heart. 

Everyone’s experience of Brugada syndrome is different; this includes when symptoms occur and which ones. However, people with the condition usually begin to notice symptoms in their early 20s. Although, there are instances where people have been asymptomatic into their mid-50s or have never had symptoms despite having the condition.

Because these symptoms can develop so late, or not at all, family history and health testing are important tools for a diagnosis. This includes monitoring your health when prescribed medications, having regular blood tests and even genetic testing if your family health history may indicate the condition.

‘Heart attack’ can refer to any number of heart problems that can cause an individual to lose consciousness and die suddenly. The most common cause of a heart attack is a blocked coronary artery (acute myocardial infarction), but HCM and other genetic heart diseases are well-known to be responsible for sudden death. It’s not uncommon to diagnose a genetic heart disease in a family where it was thought previously that the cause of sudden death was a blocked coronary artery. Through careful investigation of the family and specialised genetic testing, a precise diagnosis of a genetic heart condition such as catecholaminergic polymorphic ventricular tachycardia or long QT syndrome can be made. Once hypertrophic cardiomyopathy is diagnosed, the risk of sudden death can be minimised through expert care in the hands of a physician with expertise in preventing sudden death. 

CPVT is triggered by situations that increase the activity of your sympathetic system (fight or flight response). Therefore, it is important that you avoid situations or experiences that can make you feel stressed, or extremely angry or upset; or that are physically strenuous. You can also manage your symptoms through medication or surgery, if needed, to limit the likelihood of complications as sometimes it is not always possible to avoid triggers.