Diagnosis and screening

Often enlargement of the aorta is not associated with any symptoms so patients may not be aware that they have a health issue.

Diagnosis can often occur by chance with a dilated aorta – appearing on X-rays or scans taken for other reasons.

In other cases, diagnostic tests might happen because there are other symptoms that suggest an inherited heart problem – for example, a member of the family has a history of a ruptured aorta.

However, diagnosis can be complicated because although many aortopathies (diseases of the aorta) are genetic, not all the genes responsible have yet to be defined.

The clinic team

A multidisciplinary team (MDT) is responsible for the care of around 300 patients currently in the aortic programme and includes cardiologists, cardiac and vascular surgeons, geneticists, the imaging team (echo/CT/MRI specialists) and clinical nurse specialists. The MDT works closely with the adult congenital heart disease and the extended structural heart disease team. 

Multidisciplinary care is often coordinated with specialists at other hospitals in the areas of ophthalmology, orthopaedics and specialist physiotherapy.

Aortopathy clinics

We have a number of specialist aortopathy clinics to diagnose, treat and follow-up patients with aortic disease.

The clinic team provides information, support and advice to patients and their families about their specific condition, treatment options and lifestyle choices. This includes the implications of having aortic disease on future pregnancies and family planning.

A monthly Friday afternoon family clinic run by Dr Nitha Naqvi, paediatric consultant cardiologist and Dr Anand Saggar, consultant clinical geneticist takes place at Royal Brompton.

There are also two further specialist clinics run by Dr Saggar: one twice monthly at Harefield and another once a month in the evenings at Royal Brompton. Dr Saggar’s clinics are mainly diagnostic and focus on investigating the possible genetic cause of the aortic disease.

Diagnostic tests for aortopathies include:

  • Physical examination
  • A full personal and family medical history
  • ECG
  • Echo
  • Blood test for genetics

Many patients will then go on to have either an MRI (magnetic resonance imaging) scan or a CT scan. These further scans can show all of the other arteries including those in the abdomen and brain if needed.

Familial screening

Due to the genetic nature of some aortopathies, there is a likelihood that other family members may also have the condition. Screening other family members, who may also be at risk, is a vital part of our clinic work. For many of these conditions if a patient is affected their children have a 50/50 chance of also having a problem.

Screening involves a review of the patient's parents, siblings and any children they may have. If appropriate, the team may also talk to the patients about a current clinical trial for Marfan Syndrome - the AIMS trial. This is a study into a blood pressure medication that may reduce the chance of problems with the aorta.  

Follow-up clinics

Following confirmed diagnosis, aortopathy patients attend a clinic on a regular basis for screening with echocardiograms and MRI scans.


Beta-blockers are the most usual medication for people with aortic disease. This is done to slow down the rate of dilatation of the aorta.

Surgical intervention patients with dilated aortas will go on to have operations to replace the areas of weakness. The Trust performs a whole range of operative interventions including innovative new techniques such as aortic wraps (Exostent). 

Family planning and pregnancy

Due to the risk of passing on aortic disease, pregnancy needs to be discussed in full with patients who have a genetic condition. IVF techniques and screening before birth are all potential options for families.  There are a number of risks, including aortic dissection associated with pregnancy for women with aortopathies, particularly Marfan syndrome, and the multidisciplinary will discuss these with patients considering starting a family.