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Cardiology

Presentation: Adult with arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic cardiomyopathy, is an inherited cause of sudden cardiac death. It is important to identify at-risk family members early in order to start primary prevention as soon as possible.

Example clinical scenario

A 30-year-old woman is referred for assessment due to multiple episodes of palpitations that cause her to feel lightheaded. She has had one episode of blackout. An electrocardiogram (ECG) demonstrates inverted T-waves in leads V1–V3. Cardiac MRI shows reduced right ventricular function with features of fibrous-fatty infiltration of the heart muscle. Her sister has an implantable cardioverter-defibrillator device in her chest following a resuscitated cardiac arrest.

When to consider genomic testing

  • Genomic testing is recommended in the following situations:
    • an individual meets a definite diagnosis according to the modified task force criteria, with age of onset below 50 years;
    • a deceased individual had pathologically confirmed arrhythmogenic right ventricular cardiomyopathy (ARVC) and has relatives who will benefit from cascade testing in the event of a genetic diagnosis; or
    • identification of a pathogenic or likely pathogenic variant in an ARVC-associated gene would complete diagnostic task force criteria for ARVC.
  • Testing should be carried out in parallel with expert phenotypic assessment – for example in an inherited cardiac conditions (ICC) clinic – and with support from clinical genetics services. Note that testing may occasionally be appropriate outside these criteria, following discussion in an ICC multidisciplinary team meeting.
  • Bear in mind that the phenotype may represent another form of arrhythmogenic cardiomyopathy (ACM) – for example, left ventricular or biventricular involvement or features of dilated cardiomyopathy (DCM).

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet containing details of all available tests.
  • To find out which genes are included on different gene panels, see the NHS Genomic Medicine Service (GMS) signed-off panels resource.
  • If the relevant eligibility criteria are met, discuss the case with or refer it to your local ICC clinical service for genomic testing and family screening. You will need to provide details confirming that the patient fulfils the criteria.
  • If the patient fulfils diagnostic criteria as detailed in published guidelines that differ from the eligibility criteria in the test directory, it is appropriate to refer to an ICC clinic for further assessment.
  • The relevant clinical indication for adults with suspected ARVC is:
  • For tests that do not include whole genome sequencing, you will need to:
    • include details of the phenotype in the test order form (refer to human phenotype ontology (HPO) terms or the clinical summary) as well as the appropriate panel name(s) with associated R number.
  • These tests are DNA based, and an EDTA sample (purple-topped tube) is required.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 14/03/2024
  • Next review due: 14/03/2025
  • Authors: Dr Mihir Sanghvi
  • Reviewers: Dr Caroline Coats, Dr Catherine Mercer, Dr Philip Ostrowski

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