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Physician Resources

Information pamphlet for physicians treating patients with Heritable Thoracic Aortic Disease (HTAD):

Image by Abby Anaday

Referral Form​  (patients should be aware that a referral is being requested)

 

 

Referral Criteria for Vascular/Connective Tissue

Physician referral is required. A copy of a recent echocardiogram must be included with the referral for all adult patients.

To be eligible for referral, your patient must have one or more of the following:

  • Personal history of thoracic or brain aneurysm, vascular dissection or of hollow organ rupture. Please include a report of relevant medical imaging with your referral.

  • Family history of thoracic aortic aneurysms or brain aneurysm with either multiple family members having arterial aneurysms, or where the affected family member was under 60 years of age at diagnosis. Please list affected relatives in your referral.

  • Family history of Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndrome (excluding the hypermobility subtype) or a related condition. Please indicate how the patient is related to the family members diagnosed with this condition and provide a copy of genetic results if available. 

Referrals Not Accepted

We do not see patients with Hypermobile Ehlers-Danlos Syndrome or joint hypermobility spectrum disorder unless they have features to suggest a rarer subtype of Ehlers-Danlos or LDS or MFS.  

The differential diagnosis for hypermobile EDS includes, in addition to primary rheumatologic conditions, a number of heritable connective tissue disorders.

If your patient displays any of the following, please refer them back and indicate this history on the referral:

  • Very translucent skin

  • Skin hyper extensibility (1.5 cm or more on the volar surface of the forearm) AND atrophic scars (both must be present)

  • Very wide-spaced eyes (hypertelorism)

  • A bifid uvula

  • Unprovoked bruising

  • Pneumothorax

  • Atraumatic tendon ruptures

  • Scoliosis requiring surgery or bracing

For patients in Ontario, there are provincially funded clinics for Ehlers-Danlos syndrome in Toronto that require a physician referral.

Information pamphlet for physicians treating patients with HCM and negative genetic testing results:

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