Connective Tissue Disorders

Whether you have a rare or common connective tissue disorder, an important issue that can occur is problems with the connective tissue in your heart and blood vessels.

Therefore, early connective tissue disorder diagnosis, treatment and management is best to minimise the risk of life-threatening cardiovascular complications.

Understand Connective Tissue Disorders & Your Genetics

01

Your connective tissue disorder may be a form of genetic heart condition, meaning that it is caused predominantly by a single genetic mutation (a spelling mistake or error in a gene). This genetic mutation could have been passed through your parents to you (inherited) or could have occurred for the first time in you (de novo).

If inherited, your parents may not be affected by the condition as seriously — they even may only be silent carriers of the condition, depending on how your inheritable disorder of the connective tissue manifests. In some cases, your family health history may also show evidence that the condition has been passed down through generations.

02

Determining an accurate diagnosis often requires genetic testing for various types of connective tissue disorders. This is because they can present similarly to each other; for instance, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome share symptoms with Marfan syndrome but require different interventions.

In the same vein, long QT syndrome can be misdiagnosed as epilepsy. Unfortunately, misdiagnoses can be a common occurrence when dealing with genetic heart conditions. However, genetic testing allows you to pinpoint which gene has been affected by a mutation, confirming the correct diagnosis.

03

With a firm diagnosis, you and your physician have the power to target treatment and prevention for that specific condition. You can avoid unnecessary procedures and focus on what is most likely to help. You can begin treatment early and minimise risks of more severe complications, including sudden cardiac death.

Knowing that you have a connective tissue disorder that is genetic also allows you to protect and care for your family. You can let siblings and parents know to get tested, as well as plan how you will best protect your children from inheriting the condition and/or live a full and happy life while managing it.

Your connective tissue disorder may be a form of genetic heart condition, meaning that it is caused predominantly by a single genetic mutation (a spelling mistake or error in a gene). This genetic mutation could have been passed through your parents to you (inherited) or could have occurred for the first time in you (de novo).

If inherited, your parents may not be affected by the condition as seriously — they even may only be silent carriers of the condition, depending on how your inheritable disorder of the connective tissue manifests. In some cases, your family health history may also show evidence that the condition has been passed down through generations.

Determining an accurate diagnosis often requires genetic testing for various types of connective tissue disorders. This is because they can present similarly to each other; for instance, Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome share symptoms with Marfan syndrome but require different interventions.

In the same vein, long QT syndrome can be misdiagnosed as epilepsy. Unfortunately, misdiagnoses can be a common occurrence when dealing with genetic heart conditions. However, genetic testing allows you to pinpoint which gene has been affected by a mutation, confirming the correct diagnosis.

With a firm diagnosis, you and your physician have the power to target treatment and prevention for that specific condition. You can avoid unnecessary procedures and focus on what is most likely to help. You can begin treatment early and minimise risks of more severe complications, including sudden arrhythmic death syndrome.

Knowing that you have a connective tissue disorder that is genetic also allows you to protect and care for your family. You can let siblings and parents know to get tested, as well as plan how you will best protect your children from inheriting the condition and/or live a full and happy life while managing it.

Empowering You to Protect Your Family

Progenics is the initiative of Australia and New Zealand’s first dual-trained cardiologist and clinical geneticist. With his specialist physician accreditation in both fields, Kunal Verma is uniquely positioned to help families understand and overcome genetic heart conditions, including connective tissue disorders.

Progenics emphasises giving you the knowledge to confirm, understand and treat your diagnosis. Along with traditional heart diagnostic testing, like ECGs, genetic testing enables you to understand what is happening and plan effective management strategies. This includes caring for the health of your family, ensuring that if they also have the condition it is treated early for the best possible prognosis and life expectancy.

There Is Power in Being Proactive & Positive

If you are confronting the possibility that you have a genetic heart condition, whether it’s a connective tissue disorder or something else, like familial hypercholesterolaemia, Progenics is here to help you and all Australians.

With our expert knowledge, supportive practice and specialised genetic testing, we can assist your healthcare team confirm a correct diagnosis. Then, effective treatment and management plans can be devised so you can enjoy every stage of life with your loved ones.

Learn More About Connective Tissue Disorders

While there are many genetic connective tissue disorders, the list below represents those that most commonly affect the heart and that Progenics has a special interest in. However, we routinely provide genetic evaluation for other rare genetic connective tissue disorders, so as to assist with swift and accurate diagnosis.

01

Ehlers-Danlos

Learn more

02

Marfan Syndrome

Learn more

Frequently Asked Questions

What is a connective tissue disorder?

A connective tissue disorder is a condition that affects some or all of the connective tissue in your body. The connective tissues are vital in providing strength and stability to your organs and holding your body together. Therefore, in a connective tissue disorder there can be complications throughout the whole body.

For instance, connective tissue disorders like Marfan syndrome or vascular Ehlers-Danlos syndrome can increase stress or pressure on your heart muscle and major blood vessels, like the aorta, as well as weaken your heart valves.

Can genetic connective tissue disorders be cured?

A connective tissue disorder is a condition that affects some or all of the connective tissue in your body. The connective tissues are vital in providing strength and stability to your organs and holding your body together. Therefore, in a connective tissue disorder there can be complications throughout the whole body.

For instance, connective tissue disorders like Marfan syndrome or vascular Ehlers-Danlos syndrome can increase stress or pressure on your heart muscle and major blood vessels, like the aorta, as well as weaken your heart valves.

Are all connective tissue disorders inherited?

Some connective tissue disorders can be acquired later in life as autoimmune/inflammatory disorders. Because of this, genetic testing cannot reveal the presence of these conditions.

How long can you live with a connective tissue disorder?

With modern interventions and an increase in early diagnoses, the life expectancy for someone with Marfan syndrome or similar connective tissue disorder has vastly improved compared to barely a few decades ago. Through appropriate diagnosis, management and risk prevention, there is every chance that individuals with connective tissue disorders can live through their adult years well into retirement.

What does a connective tissue disorder stop you from doing?

Your lifestyle may need to change or be modified depending on your connective tissue disorder. For instance, if you have a connective tissue disorder that affects your heart and blood vessels like the aorta, you may need to avoid physically demanding activities, including high-intensity and competitive exercise. This helps limit the pressure and stress that your cardiovascular system experiences. You may also need to take extra care when pregnant. In some connective tissue disorders, falling pregnant is not recommended as the risks during pregnancy can be extremely high.

What can happen if you don’t treat a connective tissue disorder?

If you are not aware of your exact type of connective tissue disorder and do not manage it early, you can experience complications including severe cardiovascular issues. In regards to conditions like Marfan syndrome or vEDS, this can include life-threatening complications like rupture (bursting) or dissection (tearing) of blood vessels, and severe leaking of heart valves leading to heart failure.

Therefore, the sooner you are diagnosed the better. This allows for effective treatment and management strategies to be put in place to help minimise or entirely prevent the likelihood of complications like these from occurring.