Frequently Asked Questions

What is a heritable connective tissue disorder?

There are over two hundred distinct heritable connective tissue disorders (H-CTD)  that have been described to date. These can affect various systems such as the heart, blood vessels, eyes, skin, bones, and joints, and many of them have overlapping features. Some of the most common H-CTDs that we see in our clinic include Marfan Syndrome, Loeys-Dietz Syndrome, and Ehlers-Danlos Syndrome (excluding the hypermobile subtype).

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I am an adult, can I still come to CHEO?

Yes! CHEO houses the regional genetics program for patients and families of all ages.

I think I have a connective tissue disorder. How can I be seen?

Please discuss your concerns with your primary care provider, who can refer you to the regional genetics program. More referral information and eligibility criteria can be found on the CHEO website at Connective Tissue Clinic - CHEO.

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Why was my referral denied?

Referrals are denied if the patient does not meet the department of genetics eligibility criteria. We do not see patients with Hypermobile Ehlers-Danlos Syndrome (h-EDS) or joint hypermobility spectrum disorder unless they have features suggestive of a rare subtype of EDS or other heritable connective tissue disease.  If a diagnosis of hypermobile EDS is suspected, your doctor can consider referral to UHN provincial EDS clinic (for adults) or to the Sick Kids provincial clinic (for pediatric patients). Sometimes, referrals are accepted, but we are unable to get in contact with the patient when it comes time to book their appointment. If you think this may have been the case, then reach out to your primary care provider for a new referral.

My doctor referred me – when will I be seen?

Unfortunately our waitlist can be quite long. Depending on the urgency of the referral, it can be up to a one-year wait. If you would like to check that we did receive a referral, you can call the Genetics front desk at 613-737-2275.

My doctor said I needed to get an echocardiogram (ultrasound of the heart) done prior to being seen in the heritable connective tissue clinic, is this true?

Yes, most patients do require an echo before they can be seen. The reason for this is many heritable connective tissue disorders (HCTD) have characteristic cardiovascular features, so it is important for us to know whether a patient has a normal echo for us to determine the conditions for which the patient may be at risk. It is also important for all patients with suspected HCTD to have cardiac imaging to screen for potentially life-threatening conditions such as aneurysms.

Why was I asked to get my relative to complete a form giving access to their medical records ahead of my appointment?

When there is a family history of a potential genetic condition, it is important for us to have that information in the patient’s initial appointment, as it allows us to proceed with next steps to make sure we’re screening for the correct condition(s). Without this information, we are often not able to proceed with genetic testing until it is obtained, making patients wait even longer for a diagnosis.

I don’t have all the requested information on my family (I’m adopted, estranged…etc). Can I still be seen? 

You can absolutely be seen. In genetics, family history information can be extremely useful when determining the conditions for which a patient may be at risk. That being said, if you are truly unable to gather the requested information, we will proceed with the information we do have (which is sometimes only the information the patient themself has). If this is the case for you please reach out to our office to let us know.

I was previously seen, but it’s been a few years. I have new questions, can I schedule an appointment?

If you had been discharged from Genetics, or it has been more than a year since you were seen, your chart may have been closed. You will likely need a new referral from your family doctor to ensure that we have current contact information and up-to-date information regarding your medical history.