Presently, genetic testing is the most accurate method to confirm a diagnosis of vEDS and cvEDS. The testing will show if there are any abnormalities present in your collagen genes (as relevant). This is a more accurate method than looking only at related symptoms as other conditions may present similarly to vEDS and cvEDS.

However, because no gene mutation has yet been confirmed as causing hEDS, genetic testing cannot be used to diagnose the disease. Instead, other clinical tests and thorough clinical examination will need to be performed alongside a detailed history of your health, to diagnose the condition.

Regardless, once you have your diagnosis, you can begin managing your EDS in the best way possible, limiting damage and risk to your heart and health. This is why an early diagnosis is best.

Genetic testing is the best option to confirm if you have Marfan syndrome or not. The testing looks at the gene responsible for the condition (FBN1), as well as genes responsible for similar conditions such as Loeys-Dietz syndrome and vEDS, and determines if there are any changes present. This is a more concrete method than looking at related symptoms, as the signs and symptoms of Marfan syndrome can be subtle and it can be impossible to tell it apart from conditions that mimic the syndrome. Then, once you have a confirmed diagnosis, you can begin treating your disorder with a treatment plan tailored to your diagnosis.

Additionally, even if your genetic test does not find evidence of Marfan syndrome, it may find another equally important diagnosis. For instance, it may indicate the presence of another genetic heart condition.

While the disorder means that you are building up bad cholesterol from birth, FH is often not diagnosed until puberty or adulthood. It can even be missed until a family member has a health event that is likely caused by FH, leading to testing throughout the family.

Once you know that you have FH, other family members, including children, can be checked. In fact, it is usually standard practice for children of families with FH to be checked from primary school age in order to diagnose the condition as soon as possible. 

When you are likely to be diagnosed with LQTS depends on if it is acquired or inherited, as well as which variant of inherited LQTS it is.

In the case of acquiring the disorder, this can happen at any stage. It depends on when the triggering conditions occur, such as being prescribed a particular medication or experiencing a health condition, like hypothermia or a stroke.

For those who have inherited the disorder, symptoms may not appear until you are in your 40s. Even then, it’s possible that they can go unnoticed or you may be asymptomatic. Unfortunately, for 1 in 10 of every person with the disorder, sudden death is the first symptom. 

However, if you have the Jervell and Lange-Nielsen syndrome variant where both parts of the gene pair are affected, you may experience symptoms far sooner in life. These often tend to be more severe as well.

Diagnosis, then, depends on when you notice symptoms and begin investigating them. The sooner the better though. This reduces the impact on your heart and body overall, minimising the likelihood of complications and sudden death. Therefore, if you are concerned you or a family member have LQTS, it is best to speak with your general practitioner or cardiologist as soon as possible.

An ECG is just one of the tools your general practitioner or cardiologist may use to help detect HCM. Generally, the results from the ECG alone will not prove you have the condition. Instead, they will be contextualised within a broader scope of symptoms and test results, such as echocardiograms and exercise tests. Genetic testing can then also be used to confirm the diagnosis, as well as identifying at-risk relatives.

Evidence of DCM can be detected on an ECG, which evaluates the rhythm of the heart. However, this cannot be the only test a service uses to diagnose you with DCM; you will require other investigations, such as an echocardiogram, to help paint a clearer picture of your heart’s health and ensure you get a correct diagnosis.