Unfortunately there is no cure or disease-specific Ehlers-Danlos syndrome treatment for any of the EDS types. However, there are now very good treatments available to improve the symptoms associated with EDS, and there are certain investigations that can pick up issues early so that the chances of a rare and serious complication can be reduced significantly.

As both vEDS and cVEDS predominantly affect the heart, your treatment plan will often focus on monitoring and managing any damage to your heart or arteries. This can include regular check-ups and heart tests to catch any problems early. Similarly, treating high blood pressure to reduce the strain on your heart and blood vessels is also useful. 

If you have hEDS, you will also need to be conscious of your heart health and be treated appropriately. However, your treatment plan will also include physical therapy and other measures to support your muscles and joints.

Additionally, limiting accidents or risks through lifestyle choices can play a big role when fragility is a concern for all three types of EDS. For instance, non-competitive, low-moderate intensity exercise is advised, such as brisk walks, slow jogs and swimming. This helps limit rises in your blood pressure which can place stress on your heart and blood vessels, as well as the risk of sudden impacts or jarring to your body which can damage fragile organs or blood vessels. 

As part of managing your lifestyle, care needs to be taken if you are to become pregnant. This care includes management in a ‘high-risk’ pregnancy service that includes close monitoring throughout the pregnancy. There is also the possibility of genetic testing of the fetus to determine if the condition will be passed onto your child. Working with an Ehlers-Danlos syndrome specialist doctor or healthcare team who understands the complexities of your EDS condition can help limit risks and ensure you receive the best care possible.

Treatment and management of Marfan syndrome has proven effective, particularly when started as soon as possible. Early treatment lowers the chances of serious heart complications. This is why it’s important to diagnose the condition early, including eliminating the possibility of Loeys-Dietz syndrome, vEDS and other rare and serious connective tissue disorders.

As part of your Marfan syndrome treatments, you may need to take beta blockers or blood pressure medication to reduce the strain on your heart muscle and aorta. This can slow down enlargement of the aorta and weakening of heart muscle. Regular monitoring through a specialist with expertise in Marfan syndrome is vital to detect problems early, thereby minimising damage and progression. Additionally, surgery to repair your aorta and heart valves is often recommended before serious complications occur, such as aortic dissection or rupture, or heart failure from a severely leaking valve (aortic or mitral regurgitation).

Lifestyle changes, like avoiding intense physical activity, including contact sports, can help reduce the risks associated with Marfan syndrome. This is because you are avoiding instances where you raise your blood pressure and place strain on the blood vessels and the heart.

If you have familial hypercholesterolemia, it’s recommended that you swap to a heart-healthy diet. Many people with FH find that a vegetarian or vegan diet works best, and for others a Mediterranean diet is most helpful. Making these dietary choices will help to reduce the amount of LDL produced. However, you may also need to take medications to fully manage your cholesterol levels.

Statins are a type of medication that can help to lower your LDL or ‘bad cholesterol’. They will not cure your familial hypercholesterolemia but, in conjunction with lifestyle and diet changes, they will make it easier for you to treat and manage the disorder.

Regular exercise and eating a low-fat, heart-healthy diet are great ways to naturally lower your cholesterol. However, many with FH find that it is not quite enough to get their cholesterol levels down to where they should be. This is why medications, like statins, are also recommended. Your general practitioner or cardiologist will be best able to advise you on what combination of treatments is right for you.

Like other heart conditions that reduce your heart’s functionality, such as hypertrophic cardiomyopathy, managing symptoms is the primary means for treating ACM or ARVC. As a result, arrhythmogenic right ventricular cardiomyopathy treatment focuses on three aspects: treating symptoms, lifestyle changes and monitoring your condition.

Medications, like beta blockers, for instance, can help to regulate your heart rhythm and prevent arrhythmias. If an expert in ACM believes that your risk of a life-threatening arrhythmia is high, you will be recommended to undergo a procedure to have an implantable cardioverter-defibrillator (ICD) placed in your chest. This will monitor your heartbeat and provide a strong electrical pulse (a ‘shock’) to reset your heart rhythm if you are having a dangerous arrhythmia. 

Many, if not most, ACM patients are not recommended to have an ICD implanted when the diagnosis is made. This recommendation is not taken lightly, and depends on many factors including the type of gene and mutation responsible for your ACM. 

At the extreme end of the scale, a heart transplant may be necessary.

Lifestyle changes are vital in protecting individuals with ACM. Depending on the specific gene and mutation responsible, you could be recommended to avoid anything more than gentle exercise. This is because the condition can rapidly worsen in individuals who undertake moderate-intensity exercise, including competitive physical activity. This deterioration leads to a significantly increased risk of life-threatening ventricular arrhythmias, and is probably the reason why ACM can first manifest in athletes as sudden death. In many cases, even if you are only carrying a mutation that increases your risk of ACM and are not affected by the condition, restrictions on physical activity may be recommended.

Finally, monitoring is part of an ACM treatment plan to ensure that the other treatments are effectively managing the condition. Checking to see if your heart function is changing over time is critical in helping you and your healthcare team to make informed changes to your treatment, as well as minimise your risk of serious issues.

Your Brugada syndrome treatment plan will focus on treating symptoms, as well as managing triggers to limit risks and complications. It will also be different depending on if you have an inherited form of Brugada syndrome or an acquired one.

If you have Brugada syndrome symptoms, you may be prescribed antiarrhythmic medications to manage the abnormal heartbeat. Alternatively, you may require surgery to implant a cardiac defibrillator (ICD). This will prevent ventricular tachycardia, fibrillation and sudden death by monitoring your heartbeat, and providing a small shock to reset your heart’s rhythm if needed.

At a lifestyle level, you may need to avoid medications that can increase the risk of an irregular heartbeat. Similarly, your alcohol intake may need to be reduced or eliminated entirely. Quick treatment and appropriate management of fevers will also need to become norm as they can trigger the arrhythmia. Finally, avoiding activities that elevate your heart rate, like intense exercise or competitive sports, is also recommended. This helps you maintain a steady, normal heart rate. 

Your life expectancy with Brugada syndrome ultimately depends on whether you are diagnosed and treated or not. For those who are not diagnosed or do not treat the condition, the average life expectancy ranges between 26 to 56 years, with many living to be about 40 years old. Conversely, when appropriately managed, you can expect to have a normal lifespan. 

Therefore, if you suspect you may have Brugada syndrome or you have issues with your health that may indicate the condition, it is best to follow that instinct. Even if there is only a family history of symptoms or deaths that could be related to the condition, it is better to know than to not. This ensures that you are looking after your health, and even potentially that of your family by choosing to investigate these concerns rather than ignore them.

Hypertrophic cardiomyopathy is an inherited condition caused by a genetic mutation, and this mutation cannot be fixed. However, now we have many treatment options for HCM that are highly effective. These include:

• Medications to reduce the work of the heart and reduce the chances of dangerous heart rhythms (arrhythmias).
• Pacemakers and defibrillators that can be implanted to regulate the heart rhythm and immediately treat ventricular tachycardia and ventricular fibrillation.
• Surgery or procedures to remove the excess muscle and improve blood flow (septal myectomy or alcohol septal ablation). 

Recently, new medications have been shown to reduce heart muscle thickness in patients with HCM. These hold the promise of slowing and even reversing hypertrophy and could transform how we care for patients with HCM. In extreme cases, a heart transplant is recommended and can cure the condition.

Lifestyle changes, in particular healthy exercise and avoidance of high-risk activities like swimming alone, and avoiding high-intensity exercise or competitive sports, can also go a long way to managing the condition. 

Overall, hypertrophic cardiomyopathy treatment is straightforward, effective and generally non invasive.

If left untreated or undiagnosed, HCM can kill. As explained above, it has a reputation for killing young, active and otherwise healthy people. This is why knowing your family health history and paying attention to potential warning signs is so important to avoid this heartache.

How fast your DCM progresses depends on a number of factors, including the cause and its severity. Inherited (genetic) DCM can be variable, even between family members. While some may experience progressive development of the disease, others may remain stable or only have minor changes that require an experienced cardiologist to detect. This, therefore, can complicate when diagnosis occurs. 

A factor you can control, however, is starting treatment as soon as possible. This includes investigating your health if you have any suspicions about DCM being in your family. An early diagnosis is key to minimising risk to yourself, as well as members of your whole family.

Unfortunately, inherited DCM cannot be cured yet. There are particular forms of inherited DCM that respond very well to certain medications; the heart muscle weakness can be reversed almost completely, and the symptoms of DCM can resolve fully in some patients. The diagnosis of one of these forms of inherited DCM can only be made through genetic testing though. 

Apart from these forms, several ongoing research studies are evaluating new therapies targeted to other genetic forms of DCM. Many of these therapies are very promising, but more research needs to be undertaken before they are proven to be safe and effective. 

With regards to DCM caused by other factors, such as chemotherapy medication or alcohol misuse, it is possible to completely recover heart function and ‘cure’ the condition. This typically relies on the behaviour or action that caused the condition to stop, for instance, finishing your course of chemotherapy medication or cessation of alcohol intake. However, recovery can differ from person to person, and what works for one person may not be effective for another. Further, even though the heart function recovers completely, long-term follow-up is still required because there is a possibility that heart muscle weakness may recur. If this develops silently, it can have catastrophic complications. 

In the meantime, there are several treatments that are used in DCM to manage symptoms and minimise its impact on your life. This can involve taking medications to strengthen heart muscle and improve your cardiac function, as well as prevent symptoms and complications. For instance, you may be prescribed blood thinners (anticoagulants) to stop blood clots forming. 

In some cases, your physician may recommend a procedure to implant a pacemaker or defibrillator to keep the electrical system of the heart working properly or to provide a strong electrical pulse (a ‘shock’) to reset your heart rhythm if you are having a dangerous arrhythmia. In severe cases, a heart transplant may be necessary.

Additionally, leading a healthy lifestyle can also aid these medical measures, delaying or preventing the need for further intervention. If you are diagnosed with DCM, you may need to:

• Reduce your alcohol intake.
• Switch to a low-salt (sodium) diet
• Exercise at a low to moderate intensity more frequently.

Regular checkups with your physician will help ensure that the condition has not progressed. And, if it has, they can then adjust your treatment to be more effective.

If you have not developed DCM yet and even if you carry a mutation that increases your risk of inherited DCM, there are things you can do to help prevent it from occurring:

• Limit alcohol intake.
• Avoid or quit smoking.
• Avoid or stop using illicit drugs.
• Maintain a healthy sleep and rest routine.
• Exercise regularly and maintain a healthy weight.

While there is no cure for CPVT, treatment can still be effective to manage your condition and extend your life expectancy. 

You may be prescribed antiarrhythmic medications or beta blockers to help keep your heart beat slower. If you are at higher risk or you continue to have symptoms while on medication, a procedure to implant a cardioverter defibrillator may be advised. This small device can detect ventricular arrhythmias and then administer a precise electrical pulse, resetting your heart’s rhythm. In extreme cases, surgery to divide the nerves in your heart in order to stop adrenaline affecting it may be needed. This is known as a left cardiac sympathetic denervation or sympathectomy.

Additionally, you will need to make some changes to your lifestyle to reduce triggers and manage symptoms of your condition. This includes avoiding competitive sports or high-intensity exercise that raise your heart rate significantly. Similarly, you may need to limit your caffeine intake.

As part of your overall treatment plan, you will also need to attend regular follow-ups and check-ins to ensure that the treatment plan is working as it should.

Importantly, the sooner you begin treatment the better. This reduces stress on your heart and thereby the likelihood of complications. This is why we recommend consulting with your general practitioner or cardiologist as soon as you notice potential symptoms or learn that there is a relevant family health history. Additionally, making use of genetic testing to accurately confirm a diagnosis can also be integral to getting earlier treatment.

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