What Can Be Behind Sudden Adult Death Syndrome?

There are manygenetic heart conditions that have been identified by physicians and researchers as responsible for previously unexplained sudden death. These conditions are caused by genetic mutations(spelling mistakes) in key genes for heart structure and function. We know much about the symptoms caused by these disorders and the warning signs to watch for. Within the same family, each condition can affect individuals very differently though. Some individuals, unfortunately, experience sudden adult death syndrome as the first and only symptom. 

At Progenics, we have a specialist interest in the below genetic heart conditions that can cause sudden adult or arrhythmic death syndrome. We believe in the power of an early diagnosis to change lives for the better.

The most common conditions that we see at Progenics include:

How Progenics Can Help You Understand Sudden Cardiac Death

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We now know that many individuals who have died from sudden cardiac death were actually affected by a genetic heart condition. This diagnosis was not suspected in life and the individual may never have had any symptoms before their sudden death.

As a result, many of these individuals would never have had any evaluation by a service when they were alive. Specialised genetic testing for these inherited disorders that affect the heart is a key part of achieving an accurate diagnosis that can explain why a family member passed so suddenly.

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This testing should be conducted by a service, like Progenics, that truly understands cardiac genetics, how genetic heart diseases can vary between individuals and what tests are most appropriate.

An initiative of Kunal Verma, a cardiologist and clinical geneticist, Progenics partners with patients to help protect you and your family from sudden cardiac death.

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By working with you and your health care team, and utilising standard cardiac diagnostic testing like echocardiograms and cardiac MRI scans, our comprehensive approach is focused on determining exactly which type of inherited heart condition could be present in your family.

Once this is known, treatment and management of the condition can swiftly begin for all those at risk, so that the likelihood of sudden cardiac death occurring again is reduced and serious complications prevented. 

Inherited heart conditions are those that are passed down through families and can even lie dormant 
in multiple family members.

They are caused by genetic mutations in specific genes, which children can then inherit from their parents.

It is not uncommon for multiple members of a family to all have the same genetic heart disease and all be at risk of life-threatening issues including sudden cardiac death.

You may not realise that a genetic heart disease or defect is in your family line, because it can affect people differently.

Some people may have no symptoms until they start to have signs of a heart attack and/or suddenly pass away, while others may be a carrier of the genetic mutation their whole lives without ever experiencing symptoms related to the genetic heart condition.

These inherited heart problems can affect everyone differently and to varying degrees.

In these instances, knowledge is power. Knowing that your family has a risk of genetic heart issues is critical for effectively treating and managing the condition for the best prognosis and life expectancy possible.

To achieve this, you will need to work with experts in cardiovascular genetics to correctly diagnose what type of genetic heart condition you’re dealing with. But once you have this knowledge, a carefully designed screening and management plan can be life saving, not just for you but for your loved ones.

Your diagnosis will be the first sign that they need to be evaluated properly by someone who understands these rare diseases well.

Proactivity Is the First Step to Diagnosis

Confronting the possibility that a genetic heart condition may be something that you and your family have can be scary. It can help to remember that the end goal is to understand what is happening through a diagnosis, and the earlier the diagnosis is made the better. An early diagnosis for yourself is also a potential early diagnosis for other family members, helping them to identify if they have a significant risk for an inherited heart condition that is treatable, and then treat it as well.

At Progenics, we understand how difficult discussions about the death of loved ones can be. We provide a highly specialised service that is sensitive to your needs as a family. We encourage you to first speak with your general practitioner about your concerns. If you and your doctor feel appropriate, seek the advice of a service like Progenics that specialises in inherited heart disease. Expert care is vital for you and your family to ensure that the chances of sudden death occurring in your family are reduced as much as possible.This allows for effective treatment and management plans to be devised and enacted so that there are minimal effects on your life. 

Frequently Asked Questions

Can a genetic heart condition cause sudden death?

Genetic heart conditions are known to be one of the more treatable and preventable causes of sudden death. These conditions can affect the heart in numerous ways, leading to heart failure or cardiac arrest if not properly treated and managed. Additionally, while the heart may be affected and complications actively occurring, it is possible for outward signs of the condition to be missed or be so minor as to be ignored. This then leads to instances where sudden death is the first and only symptom that a genetic heart condition is involved.

Appropriate intervention is recommended if there is a history of heart issues or sudden death in your family. This includes undergoing diagnostic testing to observe the condition and functioning of your heart, as well as genetic testing. These tests can reveal what condition is at play, allowing you to treat and manage the condition in the best way possible. Similarly, once you have a diagnosis of a genetic heart condition, it is a signifier that other family members should be tested to confirm if they have the condition.

Can sudden cardiac death be prevented?

Early diagnosis, followed by treatment and management of heart conditions can prevent many instances of sudden cardiac death. This rule applies to both acquired and inherited heart conditions.

Being aware of your health is important, and this includes investigating any familial health history that could be evidence of an inherited heart condition. Learning that you have a genetic heart condition does not only help to prevent your sudden cardiac death, but it can also prevent the risk of this for other relatives. This is because genetic heart conditions are passed through families and your diagnosis is evidence that other family members may have the condition. They can then complete testing to see if this is the case, and begin immediate treatment and management if required.

Can an enlarged heart cause sudden death?

When your heart becomes enlarged, it often cannot function properly. This means there may be reduced blood flow around your body, which is also called heart failure. In extreme instances, this can lead to sudden death, as you may not notice any symptoms of an enlarged heart before it begins to fail.

There are genetic heart conditions that can cause an enlarged heart, such as dilated cardiomyopathy and arrhythmogenic cardiomyopathy. These conditions, if left untreated, can cause serious complications. If not diagnosed early, sudden death can occur.

Therefore, it’s recommended that if you have concerns about your cardiac function, you get this investigated as soon as possible. This also includes a history of heart conditions and sudden death in your family. These instances can be evidence of a genetic heart condition that you or other relatives may have.

What is the most common cause of sudden cardiac death?

This depends on the age of the individual who passed away. In young individuals (those less than 35 years of age), the chances of a genetic (inherited) heart condition are high and genetic testing after death is vital in identifying the specific cause. In this group of individuals (those less than 35 years of age), hypertrophic cardiomyopathy appears to be the most common genetic heart disease causing sudden death. As age increases, the chances of coronary artery disease (blockages of the heart arteries) and other acquired heart diseases are higher. Nevertheless, a very significant proportion of individuals who suffered sudden cardiac death, and were more than 35 years of age when they passed away, died of a genetic heart disorder. 

This is why an autopsy after death is so important. If the autopsy does not identify a clear cause of sudden death, or if the family declines an autopsy, then genetic testing can reveal the cause of death. This information can then be used to identify others in the family who are at risk and need urgent attention to ensure that the risk of sudden death is reduced.

What should you do if you have a family history of sudden cardiac death?

If there is a history of sudden cardiac death or unexplained death in your family, it is important that you speak with your general practitioner. Explain to them that you are concerned about your risk for inherited heart conditions. They can then recommend diagnostic testing and, if appropriate, evaluation by a service in inherited heart conditions to determine an appropriate diagnosis. Once a diagnosis is confirmed, treatment and management of your condition can begin for the best possible prognosis. 

Similarly, your diagnosis of an inherited heart condition can be a stepping stone for other family members to be diagnosed themselves and begin their own treatment and management of the particular genetic heart condition.

What are the risk factors for sudden cardiac death?

Risk factors for sudden cardiac death depend on the underlying heart condition. They can include high-intensity exercise, particular types of exercise (for example, some conditions are known to be triggered by particular activities like swimming) and stressful events that raise blood pressure and so on. 

To accurately determine which risk factors you need to be aware of to minimise the likelihood of sudden cardiac death, a clear diagnosis of a heart condition is vital. From there, you can make lifestyle changes as needed, as well as take appropriate medication and undergo necessary procedures, so as to limit the likelihood of sudden cardiac death. Genetic testing is an important part of the assessment and can confirm if you have a genetic heart condition.

What causes sudden death syndrome in adults?

Sudden death syndrome can have many causes. These can be related to the heart (sudden cardiac death) or to problems with other organ systems (for example, pulmonary embolism or a severe seizure). Despite the best available testing before death, and despite a comprehensive autopsy, many cases may continue to be unexplained. These are categorised as ‘sudden unexplained death’ or ‘sudden arrhythmic death’. These sudden unexplained deaths have the potential to be caused by previously undiagnosed genetic heart disorders, and these can often only be diagnosed through specialised genetic tests. These tests can either be performed on DNA stored from the individual before they died (or DNA stored at the time of autopsy), or on living relatives of the deceased individual.

Therefore, if there is a history of sudden death syndrome or sudden cardiac arrest in your family, further investigation is advised. This includes cardiac investigations in living relatives to examine the structure and condition of their hearts, as well as genetic testing to determine if an inherited condition is involved.

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Speak With Progenics

To learn more about genetic testing prompted by sudden deaths in your family health history, feel free to contact us. If you and your general practitioner or cardiologist feel a referral to our service is appropriate, you can find all the information they need on our Clinicians page.

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