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Cardiology

Presentation: Adult with hypertrophic cardiomyopathy 

Hypertrophic cardiomyopathy is an inherited cardiac condition that can present with symptoms such as chest pain, shortness of breath on exertion, syncope and even sudden cardiac death.

Example clinical scenario

A 45-year-old man is referred for clinical assessment due to chest pain and shortness of breath on exertion. He also mentions having sporadic palpitations, but denies having had any syncopal events. On examination, he has a systolic murmur, which is more audible at the apex/left sternal edge and gets louder when the Valsalva manoeuvre is performed. Cardiac imaging suggests obstructive hypertrophic cardiomyopathy. He has two children and three siblings, and both his parents are alive.

When to consider genomic testing

  • Genomic testing is recommended in an adult if:
    • the patient meets the National Genomic Test Directory eligibility criteria outlined below and has relatives who will benefit from cascade testing if a genetic diagnosis is reached; and/or
    • there is a clinical diagnosis of hypertrophic cardiomyopathy as indicated by:
      • wall thickness of ≥15mm in one or more left ventricular (LV) myocardial segments that is not explained solely by loading conditions (principally hypertension) and the age of onset is below 60 years;
      • otherwise unexplained increased LV wall thickness of ≥13mm in one or more LV myocardial segments if the patient has a first-degree relative with unequivocal disease (LV hypertrophy of ≥15 mm) or where a family member with unequivocal disease is unavailable for testing; or
      • a deceased individual with pathologically confirmed hypertrophic cardiomyopathy for post-mortem DNA analysis.
  • A clinical diagnosis of hypertrophic cardiomyopathy can also be made in an adult who meets the following criteria, which are not listed in the test directory:
    • wall thickness of ≥15 mm in one or more LV myocardial segments that is not explained solely by loading conditions, with or without asymmetric hypertrophy and a ratio of maximal septal-to-corresponding lateral or apical-to-posterior wall thickness of ≥1.3mm or >1.5mm if the patient is hypertensive; or
    • loss of the usual apical wall thickness tapering due to its thickness exceeding basal wall thickness, although failing to reach the apical hypertrophic cardiomyopathy diagnostic wall thickness cut-off of ≥15mm, with spade‐like configuration and apical obliteration.
  • Genomic testing can also be considered if diagnosis would change the treatment plan (including whether relatives would be offered testing) in the event of hypertrophic cardiomyopathy phenocopies (such as transthyretin amyloidosis and Fabry disease) being suspected.
  • 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 where appropriate. Note that testing may occasionally be appropriate outside these criteria following a discussion in an ICC multidisciplinary team meeting.

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.
  • The relevant clinical indication for adults (or teenagers) with hypertrophic cardiomyopathy is:
  • The relevant clinical indication for younger patients for whom a syndromic diagnosis is considered is:
  • Consider mimics of hypertrophic cardiomyopathy if there is strong clinical suspicion of familial amyloidosis or neuromuscular, mitochondrial, metabolic or malformation syndromes. In these conditions, LV hypertrophy appears in association with other features.
  • For tests that do not include WGS, you will need to:
  • For WGS-based tests, you will need to:
    • complete an NHS GMS test order form with details of the proband and their parents, including details of the phenotype (refer to HPO terms or clinical summary) and the appropriate panel name(s) with associated R number (see How to complete a test order form for WGS for support);
    • complete an NHS GMS record of discussion form for each person being tested – for example, if you are undertaking trio testing of an affected individual and their parents, you will need three of these forms (see How to complete a record of discussion form for support); and
    • submit parental samples alongside the proband’s sample (this is trio testing) to aid interpretation, especially for the larger WGS panels (where this is not possible, for example because one or both parents are unavailable for testing, the proband may be submitted as a singleton).
  • 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: 07/03/2024
  • Next review due: 07/03/2025
  • Authors: Dr Dimitra Antonakaki, Dr Barbara Cardoso, Dr Mihir Sanghvi
  • Reviewers: Dr Danielle Bogue, Dr Catherine Mercer, Professor Sam Mohiddin, Dr Tobi Soge

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