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Oxford University Hospitals NHS Foundation Trust
Cardiothoracic Services

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Inherited Cardiac Conditions

We provide diagnoses, management and support to those with heart conditions that can be passed on in a family (inherited conditions) and for those with acquired (such as inflammatory) heart conditions.

Our team comprises:
  • cardiologists
  • clinical geneticists
  • specialist nurses
  • genetic counsellors
  • administrative staff.

Inherited conditions

There are two main types of inherited cardiac conditions that we see: cardiomyopathies and channelopathies. We also manage other inherited, storage and inflammatory disorders.

Cardiomyopathies

Cardiomyopathies are a group of conditions that can affect the heart muscle. Different cardiomyopathies can cause the heart muscle to thicken, weaken, or develop fatty tissue and scarring.

These conditions can ultimately affect the ability of the heart to pump blood around the body and they can also cause abnormal rhythms.

Examples of cardiomyopathies include (links go to Cardiomyopathy UK):

Channelopathies

Channelopathies are a group of conditions that affect the electrical system of the heart, more specifically the ion channels in heart muscle cells.

These control the electrical messages that allow the heart to pump. This condition can cause irregular heart rhythms (arrhythmias). Those affected may experience palpitations, and dizziness or blackouts.

Examples of channelopathies include (links go to British Heart Foundation):

Other conditions we manage

Sudden Arrhythmic Death Syndrome (SADS)

SADS is usually identified when a person dies suddenly and other reasons for their passing are ruled out. It usually means there was an undiagnosed genetic issue causing abnormal and dangerous heart rhythms in that person.

For more information please visit: SADS Foundation

We also manage:

  • mitochondrial disease
  • myocarditis
  • cardiac sarcoidosis
  • systemic and auto-immune disorders
  • storage disorders
  • amyloidosis
  • RASopathies (e.g. Noonan syndrome).

Examples of other inherited conditions

  • Aortopathies (e.g. Marfan Syndrome and Loeys-Dietz)
    managed in the Aortopathies Clinic
  • Familial hypercholesterolaemia (FH)
    seen by Professor Fredrik Karpe, not part of the ICC Clinic
  • Muscular dystrophies
    seen by Dr Alex Pitcher

Your referral

You may have a referral to our service if you have a diagnosis of a heart condition that we know can be passed on in the family, which can require specialist management.

You may also have a relative with an inherited heart condition, and your relative has been told that their family members should have checks on their heart and/or genetic testing.

If we offer you two appointments, one appointment will be for an echocardiogram, and the other will be for a consultation (plus an ECG).

If you need an echocardiogram, this will be booked as a separate appointment as there are a limited number of slots available, which might be confusing, but both will be in Oxford Heart Centre Outpatients.

Your appointment

At your appointment you can expect to have an ECG, which measures the electrical rhythm of your heart. You may also have an echocardiogram, which looks at the pumping function of your heart.

You will then see one of our cardiologists or specialist nurses, who will discuss your results. They will likely discuss follow-up care, whether further tests are needed, or any treatment options available.

If you are referred for screening (with echocardiogram and ECG), this appointment may last half the day, as we cannot always book your echocardiogram directly before your consultation with the cardiologist.

If your tests show you have an inherited cardiac condition, other family members may also be at risk of developing the same condition. We may recommend that other members of your family are referred for checks on their hearts (echocardiogram and ECG).

You may speak with a genetic counsellor as well, who will discuss whether genetic testing may be helpful for you and your family. This can help clarify whether there is a 'spelling mistake' in the DNA that has caused an inherited cardiac condition in your family, or indeed may help to confirm whether you carry the 'spelling mistake' already known to be causing heart issues in your family.

If you are referred for genetic counselling, the consultation should not be more than an hour, but can sometimes take longer if blood samples are taken.

Tests

We perform the following tests. We may consider other specialist tests such as a cardiac biopsy or a device check where needed.

Electrocardiogram (ECG) and/or Holter monitor

An ECG measures the electrical activity of your heart. A Holter monitor is an ECG that you wear over a period of 24 hours to one week.

Electrocardiogram (ECG) - NHS website

Echocardiogram or 'echo'

An echocardiogram is an ultrasound test that looks at the structure of your heart to see if blood is being pumped around the body normally.

Echocardiogram - NHS website

Genetic testing

Genetic testing can determine if you carry a gene change that might be causing heart problems in you and/or your family. It consists of a blood test (or for children a saliva sample), which is then sent to our lab to be analysed.

Genetic and genomic testing - NHS website

Other tests related to your heart

Exercise tolerance / stress test / cardiopulmonary exercise test / exercise echocardiogram

This test measures how your heart responds when you do exercise. This usually happens on a bike or treadmill, and your heart rhythms will be monitored for any changes.

What is a stress test? - bhf.org.uk

Blood tests
Cardiac MRI scan (CMR)

A cardiac MRI is a type of scan that takes very detailed pictures of your heart, and usually takes around an hour.

Having a Cardiac MRI Scan (pdf)

Computed tomography coronary angiogram or invasive coronary angiogram

These tests may be performed to ensure that the blood supply to your heart is normal.

Coronary angiogram - bhf.org.uk

PET scan

A PET scan is used to identify active inflammation within your heart. It requires a strict dietary preparation protocol to be followed before the scan is performed.

PET scan - NHS website

Our team

Cardiologists

  • Prof Hugh Watkins
    Radcliffe Professor of Medicine and Head of Department, Honorary Consultant
  • Dr Eleanor Wicks
    Consultant Cardiologist and Clinical Lead
  • Prof Houman Ashrafian
    Honorary Consultant
  • Associate Prof Masliza Mahmod
    Honorary Consultant
  • Dr Julian Ormerod
    Consultant Cardiologist
  • Dr Sergey Barsamyan
    Cardiology Registrar
  • Dr Joyee Basu
    Cardiology Registrar
  • Dr Rizwan Sarwar
    Cardiology Registrar

We also work closely with Paediatric Cardiology and Oxford Children's Hospital.

Clinical Geneticist

Dr Ed Blair
Consultant Clinical Geneticist

Nurses

  • Kayleen Coutts
    Advanced Nurse Practitioner (ANP) and Senior Nurse
  • Kerri Anderson-Bazan
    Specialist Nurse in Cardiology
  • Jessica Arrow-Cumbe
    Specialist Nurse in Cardiology

Genetic counsellors

  • Alyssa Armsby
    Principal Genetic Counsellor
  • Dr Liz Ormondroyd
    Research Genetic Counsellor
  • Christine Neatby
    Trainee Genetic Counsellor

Administrative staff

  • Roxana Pop
    Administrative Manager
  • Steven Graver
    Clinic Administrator
  • Julie Johnson
    Medical Secretary
  • Zoe Maskens
    Pathway Administrator
  • Joshua Odwin
    Clinic Administrator

Find us and contact us

Email: orh-tr.ICC@nhs.net

Oxford Heart Centre Outpatients

How to find the John Radcliffe Hospital

Referrals

Inherited Cardiac Conditions (ICC) referrals

Links