If you have been referred to the Aortopathy/Connective Tissue Disease clinic at Royal Brompton Hospital, this could be because:

  • a family member has been diagnosed with an inherited heart condition
  • a family member has died suddenly from a suspected or confirmed heart condition that may be inherited
  • you have experienced symptoms that need further investigation.

However you may have been referred for another reason and this will be discussed with you. 

What is aortopathy?

Aortopathy simply means any disease of the aorta, which is the main artery of the body. It supplies oxygenated blood to the circulatory system and passes over the heart from the left ventricle and runs down in front of the backbone.

There are two types of aortopathy disease; thoracic aortic enlargement progressing to the life-threatening complication of acute aortic dissection or thoracic aortic dissection in the absence of aortic enlargement. 

In some instances, the aortic involvement is part of a collection of physical signs and symptoms, known as a syndrome. Clinical phenotype may vary and overlap among disorders. 

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

Diagnosing aortopathy

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 raptured 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.

Connective tissue

This is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs and is composed largely of collagen and elastin. Hereditary connective tissue disorders includes such diseases as Ehlers-Danlos syndrome and Marfan's syndrome.

Connective tissue disease is any disease that has the connective tissues of the body as a target of pathology. 

Conditions we treat

  • Marfan syndrome (MFS)
  • Loeys-Dietz syndrome (LDS)
  • Ehlers-Danlos syndrome types I/II, IV, VI
  • Thoracic aortic aneurysm and dissections (familial)
  • Congenital contractural arachnodactyly
  • Arterial tortuosity syndrome
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • Bicuspid Aortic Valve 

Our 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.

There is a weekly Tuesday morning aortopathy clinic run by Professor Christoph Nienaber, consultant cardiologist and mainly focuses on thoracic aortic aneurysm and dissections (familial).

There is also a monthly Friday afternoon family clinic run by Professor Nienaber, Dr Nitha Naqvi, paediatric consultant cardiologist and Dr Anand Saggar, consultant clinical geneticist. It takes place at Royal Brompton Hospital and focuses on connective tissue disorder affecting the aorta.

There are two further specialist clinics run by Dr Saggar; twice monthly at Harefield Hospital and another once a month in the evenings at Royal Brompton Hospital.

Dr Saggar’s clinics are mainly diagnostic and focus on investigating the possible genetic cause of the aortic disease and genetic counselling. 

Diagnostic tests

Testing for aortopathies include:

  • a physical examination
  • a full personal, family medical history and detailed family tree
  • an ECG
  • an echocardiogram
  • blood test for genetics.

Many patients will then go on to have either a 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 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 will involve 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 trials running at the Trust. 

Follow up clinics

Following confirmed diagnosis, aortopathy patients attend 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

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:  

  • Bentall procedure
  • Valve-sparing aortic root replacement
  • Personalised external aortic root support (PEARS) 
  • 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. 

Echocardiogram (echo)

An echocardiogram, also known as an echo, is a test that uses sound waves to build up a moving picture of the heart.

Bentall procedure

A Bentall procedure is carried out during aortic surgery to replace the faulty parts of the aorta, such as the valve or the ascending aorta, with a graft.


Royal Brompton Hospital 

If you have any queries regarding your appointment date, please call: 020 7352 8121, extension 2817. 

If you have any other questions or concerns, please contact the ICC clinical nurse specialists by calling 020 7352 8121, extension 2913. 

If we can't take your call, please leave a message and a nurse specialist will call you back.  

Harefield Hospital 

If your appointment is at Harefield Hospital, please contact the clinical nurse specialists by calling 01895 828 943.

If you have any other questions or concerns, please contact the ICC clinical nurse specialists by calling 020 7352 8121, extension 2913.

Further information

Marfan Trust
Website: www.marfantrust.org  
Email: marfantrust@sgul.ac.uk    
Telephone: 020 8725 1189

Marfan Associate
Website: marfan-association.org.uk 
Email: contactus@marfan-association.org.uk
Telephone: +44 (0)1252 810472

British Heart Foundation
Website: www.bhf.org.uk