Inherited cardiovascular conditions

Inherited Cardiovascular Conditions (or ICCs) are a group of different genetic conditions that mainly affect the heart or main blood vessels.

There are 4 main groups of conditions that we deal with:

Cardiomyopathies – these conditions mainly affect the muscle of the heart. Examples include:

• Hypertrophic cardiomyopathy – when the heart muscle becomes too thick
• Dilated cardiomyopathy – when the heart enlarges and the muscle becomes weak
• Arrhythmogenic cardiomyopathy – when the muscle of the heart is replaced by fat and scar
• Restrictive cardiomyopathy – a quite rare condition that can cause heart failure
• Non-compaction – an abnormality of muscle development
  
  Ion channel disorders – these conditions mainly affect the electrical system of the heart. Examples include:

• Long QT syndrome – when the heart takes too long to relax
• Short QT syndrome – when the heart relaxes too quickly
• Brugada syndrome – an unusual condition with a characteristic pattern on the heart trace
• Catecholaminergic polymorphic VT – a rare condition that causes heart rhythm problems during times of stress or exercise
  
  Neuromuscular conditions – these conditions affect both the muscles of the body and the muscle or electrical system of the heart. Examples include:

• Muscular dystrophy – conditions such as Duchenne and Becker’s muscular dystrophy can cause significant weakness of the muscles of the body and can also cause heart failure
• Lamin – can cause problems with skeletal muscles, rhythm problems and heart failure
• Myotonic dystrophy – this is a condition in which the muscles of the body get tired easily and it can also affect the heart electrical system
  
  Conditions affecting the major blood vessels – these conditions affect the major blood vessels. Examples include:

• Marfan syndrome – a condition that affects many different aspects of the body including the eyes, the joints, the heart and the main artery called the aorta.
• Ehler’s Danlos syndrome – a condition that affects the skin and joints and the main artery (aorta).
• Loeys-Dietz syndrome

It is a busy clinic and we see hundreds of patients each year, but because it is a specialist clinic we are able to spend a lot longer with you than normal.

Inherited conditions are often difficult to diagnose and can be complicated to assess, so we often need to do a number of tests on your heart. We try to do as many of these tests as we can on the day of your clinic appointment so that we can provide you with the results straight away and to try and minimize the number of visits you need to make. For this reason we have designed the clinic so that when you come for your first appointment we will:

• Spend some time talking to you about your family and make a family tree
• Arrange some tests for you in the morning such as a scan of your heart, a heart trace or an exercise test
• See the consultant who will assess any symptoms you may have, talk to you about the condition that may run in your family and discuss your test results with you
• If you require any further tests, we will explain what they involve and why we are arranging them for you
• If you require any treatment this will be discussed with you and you may be given a prescription on the day
• Some patients may find it useful to see our dedicated counsellor and we can often arrange an appointment on the day of your visit as well
• Provide you with an information pack which will include contact details, patient information about the relevant heart condition, information about charities that support patients and their families, and information sheets for your relatives

To fit all this in takes some time so for your first appointment please expect to be in the hospital for about 3 to 4 hours. There will be plenty of time to get a coffee or some lunch so don’t panic! We believe that it is much better to spend more time on the first visit and get as many of your tests done as possible.

Sometimes it is helpful to share information about you and your test results with some of your relatives. We would never share any details about your health without your permission and if you wish to keep your results to yourself that is absolutely fine. If on the other hand you are happy to share some basic clinical information then we will ask you to sign a consent form. You can change your mind at any time however.

The role of the Inherited Cardiovascular Conditions Service is changing and expanding. National and international guidelines now recommend that individuals with, or at risk of having, an inherited cardiovascular condition should be seen in a specialist clinic at least once.

This is a new development and is supported by:

• Association for Inherited Cardiovascular Conditions (AICC) – the national body for inherited cardiovascular conditions
• NHS England
• European Heart Rhythm Association and (US) Heart Rhythm Society consensus guidelines

Not all patients will need to keep coming back to the clinic and many with stable or mild disease can be seen in secondary and tertiary care.

There are several ways in which patients are referred to the Inherited Cardiovascular Conditions Service:

• GP referral – any patient with, or at risk of having, an inherited cardiovascular condition who isn’t already being seen should be referred.
• Hospital referrals – any patient who has a suspected or confirmed diagnosis can be referred. Reasons for referral might include diagnostic confirmation, exclusion of phenocopies (conditions that mimic a genetic condition), genetic testing, risk stratification, management advice, long term follow up, family screening.

For clinical questions in patients over 16 years of age:

Contact the Clinical Nurse Specialists on 07584 184602

For appointments

0113 3926476

For questions relating to genetic testing:

Contact Kath Ashcroft on 01133924436 or [email protected]

Paediatric Liaison Nurses – 0113 3925467

Our “Core Team” includes:

Consultant Cardiac Electrophysiologist (Heart muscle and Arrhythmias)

• Dr Stephen Page

Consultant Cardiologist (Heart muscle and Arrhythmias)

• Dr Alex Simms

Consultant Cardiologist (Heart muscle, Arrhythmias, Imaging)

• Dr Anshu Sengupta

Consultant Paediatric Cardiologist

• Dr Elspeth Brown
• Dr Grazia Delle Donne

Consultant Clinical Geneticist

• Dr Ros Jewell
• Dr Katrina Prescott
• Dr Verity Hartill

Clinical Nurse Specialist

• Annabel Nixon
• Rachel Walker

Genetic Counsellor

• Kath Ashcroft
• Kathryn Moore
• Jane Slack

Specialist Echocardiographer

• Gemma Bassindale
• Jan Forster

Specialist Sonographer

• Charlotte Knowles

We also have a large team of supporting staff that we work very closely with:

Consultant Cardiologist (Aortopathy clinic)

• Dr Waz Baig

Consultant Cardiologist (Neuromuscular clinic)

• Dr Rob Sapsford 

Consultant Pathologist

• Dr Lisa Barker     

Secretary

• Karen Sherburn  

We also have close links with several national specialist clinics including those at Barts Heart Centre in London, the Royal Salford Hospital in Manchester and the National Amyloid Centre at the Royal Free Hospital in London.