Thoracic Aorta Disease- Draft

Overview

This page deals with management of patients with:

• Imaging that indicates dilated ascending/thoracic aorta who are asymptomatic
• Patients who have a strong family history of dilated thoracic aorta or dissection.

See the following pages for the other conditions:

• Aortic Dissection
• Abdominal Aortic Aneurysm

Thoracic aortic disease is most commonly cause by a combination of age and hypertension.  A significant minority of cases are inherited (syndromic and non-syndromic), and known as hereditary thoracic aortic disease (HTAD).

The increase in availability of genetic testing has resulted in increased referrals to the service and the need for guidance for referral, genetic testing, and appropriate follow-up intervals.

A dilated ascending aorta may be found as an incidental finding on imaging such as echo or MRI or during investigation of associated conditions such as:

• Marfan's syndrome
• Ankylosing Spondylitis
• Syphilis
• Takayasu's arteritis

If the patient is symptomatic then please review the Aortic Dissection page or see the Red Flag section below.

Family History

About 20% of patients with thoracic aortic aneurysm or dissection (TAAD) have a first-degree relative with a similar disease. The familial form (HTAD) of the disease is inherited in an autosomal-dominant pattern. Current guidelines for thoracic aortic disease recommend screening of first-degree relatives of TAAD patients. In known familial disease, screening of both first- and second-degree relatives is recommended(1).

Who to refer

Patients with dilatation of the ascending aorta on imaging

If asymptomatic then patients should be referred routinely to Cardiology via eRS to discuss monitoring if any of the following apply:

• Family history aortic or vessel aneurysm/dissection
• Bicuspid aortic valve
• Aorta >40mm (although refer if < 40mm if young or other concerns or risks for aneurysms).

Patients who are frail or not willing to consider surgery may decline a referral but it may still be important for them to be seen to consider whether screening of their family is necessary. 

Patients with mildly dilated aortas (<40mm) who are older do not necessarily need to be referred. However, if there are still concerns then a referral can still be made for further discussion with a cardiologist.

Screening

Patients with a significant* family history of thoracic aorta disease (aortic dissection or dilatation) but no personal evidence of thoracic aorta disease should be referred to consider screening.

Significant family history includes:

• Patients with a family history of thoracic aortic disease with known pathogenic variant
• Patients with a first degree relative with a dilated thoracic aorta.
• Patients with known familial disease in a first or second degree relative.

Patient with features consistent with syndromic HTAD but no cardiac disease should also be referred for screening.

Frequency of imaging depends on gene variant (if known), age, and family history.

If negative, repeat screening imaging should generally be performed 5 yearly. This will usually be done by the cardiology team, unless otherwise arranged

Pregnancy and Thoracic Aorta Disease

Any patients who are pregnant or planning pregnancy with evidence of thoracic aorta disease should be referred to maternal heart team. Pre-pregnancy counselling should be offered.

See the CG For Management Of Aortic Disease FINAL Sep 2024 document for further details.

Red flags

Suspected aortic dissection

Any person with new onset pain who has a history of aortopathy (or diagnosed first degree relative), aortic dilatation, bicuspid aortic valve or with past aortic surgery should have an emergency CT aortogram to exclude aortic dissection.

What to do before referral

For patients with asymptomatic dilatation of the ascending aorta, please consider the following as part of the work up:

• Family History
• Blood pressure
• ECG
• Echocardiogram

All patients should also have cardiovascular risks managed as appropriate.

Safety netting - advise the patient that if they develop chest pain then they should call 999 and attend their local emergency department immediately.

Referral

Cardiology Referral

• UHBW - Refer to Cardiology- Valve Clinic at the BRI via eRS. Patients who are eligible for screening should also be referred to this clinic.
• NBT - There is no specialist consultant in this area at NBT but patients can be transferred if seen initially at NBT.
• GPs may also consider using Cardiology advice and guidance which is available via eRS.

Genetics Referral

Referral to clinical genetics in BNSSG is currently restricted. Please see the Genetics - general page for details. In BNSSG, referral to cardiology at BRI as above for all patients is therefore currently recommended. Onward referral to genetics can then be made from secondary care if needed.

Resources

(1) Screening for Familial Thoracic Aortic Aneurysms with Aortic Imaging Does Not Detect All Potential Carriers of the Disease - PMC (nih.gov)

Efforts are made to ensure the accuracy and agreement of these guidelines, including any content uploaded, referred to or linked to from the system. However, BNSSG ICB cannot guarantee this. This guidance does not override the individual responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or guardian or carer, in accordance with the mental capacity act, and informed by the summary of product characteristics of any drugs they are considering. Practitioners are required to perform their duties in accordance with the law and their regulators and nothing in this guidance should be interpreted in a way that would be inconsistent with compliance with those duties.

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