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Inherited cardiac conditions referral guidelines

This page details the East Anglia Clinical Genomics Service referral guidelines for Inherited Cardiac Conditions.

Appropriate to be seen in the Clinical Genomics Department

Patient with:
  • Aortopathy if there are additional features that may suggest a complex/syndromic cause:

- age of onset <50
- connective tissue features
- distinctive facial or other physical features
- congenital anomalies
- learning difficulties
- other relevant medical problems eg ectopia lentis, bifid uvula, congenital heart disease
- consanguinity
- family history of aortopathy/unexpected sudden death at a young age

  • personal or family history of other blood vessel problems (aneurysms/dissections elsewhere)
  • Possible Marfan syndrome. Please organise an echocardiogram prior to referral, in particular measuring the diameter of the aorta at the sinus of Valsalva and enclose a copy with the referral.
  • Patient with an Aortopathy condition, Arrhythmia syndrome or Arrhythmogenic, Dilated, Hypertrophic or Restrictive Cardiomyopathy where a (likely) pathogenic variant has been found. If there is a strong family history, and no genetic cause has been found, it is reasonable to refer those patients.
  • Congenital heart disease with additional features: If there are additional features such as learning disability, developmental delay, growth parameters outside the normal range (e.g. short stature, microcephaly) other congenital anomalies, distinctive features then please organise appropriate genetic testing first before referral.
Family history in a first degree relative:
  • Family history of an Aortopathy condition, Arrhythmia syndrome or Arrhythmogenic, Dilated, Hypertrophic or Restrictive Cardiomyopathy where a (likely) pathogenic variant has been found in a first degree relative.

For an arrhythmia syndrome, please arrange a 12 lead ECG and enclose a copy with the referral. Please also include information about the relative if known, including name, d.o.b. and where they were tested. If no genetic cause has been identified, please refer your patient to their local Inherited Cardiovascular Conditions Cardiologist at Addenbrookes, Papworth or the Norfolk and Norwich Hospitals or local Cardiologist with expertise in these conditions for cardiac evaluation.

  • Family history (first degree relative) of unexplained cardiac arrest where DNA/frozen liver/frozen spleen has been stored on the proband who is:

- under the age of 40y
- under the age of 60y with a normal post mortem and family history <40y
- under the age of 60y and family history <60y both with a normal post mortem

Please also refer them also to either the Family History Screening clinic at Papworth hospital or their local ICC/Cardiology clinic for clinical evaluation.

Family history but not a first degree relative:

If a genetic cause has been identified, advise the first degree relative to be referred first.

If no genetic cause has been identified, please advise that genetic testing has to start in an affected individual first.

Patients who should not be referred to Clinical Genetics:

  • Aortopathy (non syndromic)
    - Arrhythmogenic, Dilated, Hypertrophic, Restrictive Cardiomyopathy
    - Arrhythmia syndromes such as Brugada, CPVT, Long QT etc.
    -     Cardiologists can organise their own genetic testing if they fulfil the National Genomics Test Directory criteria and should be advising on appropriate screening of first degree relatives.
  • Bicuspid aortic valve family history. Please organise an echocardiogram.
  • Coronary heart disease or family history of the same. This is unlikely to be monogenic unless Familial Hyperlipidaemia. Please address their Cardiovascular risk factors.
  • Congenital heart disease (non syndromic). Please organise a chromosomal microarray if indicated in the National Genomics Test Directory.
  • Distant relatives (2nd degree and greater) with a family history
  • Familial hyperlipidaemia and hypercholesterolaemia. Referrals for probands AND their relatives should either be directed to your local lipid clinic, or if a GP you can organise genetic testing via the FH pathway. See eastgenomics.nhs.uk, go to projects and Familial Hypercholesterolaemia.
  • Left Ventricular Non Compaction. There is no genetic testing available for this condition.
    - Unexplained death in infancy/childhood. Genetic testing in the proband should be led by the paediatric team involved, with support from Clinical Genetics if required

There is a short training module on Cardiac genetic testing on our East Genomics e-learning platform here (opens in a new tab).

This document was correct at the time of printing - 02-05-2025 13:09