Thoracic Aorta Disease

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 

Thoracic aortic disease (or Thoracic Aortic Aneurysm and Dissection - TAAD) is most commonly caused by a combination of age and hypertension.  A significant minority of cases are inherited and known as hereditary thoracic aortic disease (HTAD). About 20% are syndromic (i.e. associated with other conditions)* and 80% non-syndromic.

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 (syndromic) such as:

• Marfan's syndrome
• Loeys-Dietz syndrome
• Takayasu's arteritis
• Inflammatory arthritis

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 (1). Current local guidelines for thoracic aortic disease recommend screening of first-degree relatives of TAAD patients.

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 > or = 40mm diameter (although refer if < 40mm if young or other concerns or risks for aneurysms*).

*40mm has been chosen as an arbitrary size, beyond which assessment/screening may be advantageous. Younger patients (<60 years) with a dilated aorta <40mm and no other cause may be referred if there is a strong suspicion of an underlying disease (2).

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

For referral purposes, aorta diameter threshold should be based on absolute size and not relative to height.

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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 first degree relative with thoracic aortic disease (dilatation or dissection).

Patient with features consistent with syndromic conditions associated with HTAD but no evidence of cardiac disease should also be referred for consideration of 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.

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Pregnancy and Thoracic Aorta Disease

Increasing awareness about the risk of aortic dissection in pregnancy is important as women are at risk of aortic dissection and death.  Anyone with a family history in first degree relatives needs to be treated as high-risk. 

Pre-pregnancy counselling

Patients who are already under the cardiology team will be given pre-pregnancy counselling.

Patients who are not already under the cardiology team but have syndromes associated with HTAD or a 1st degree relative with thoracic aorta disease should be referred to cardiology urgently.

Pregnancy

Patients who are pregnant with thoracic aorta disease or a 1st degree relative with thoracic aorta disease should be referred to secondary care Maternal Medicine.

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 (referral can be made while this is pending)

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)

(2) CG For Management Of Aortic Disease FINAL Nov 2024

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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