The Extended Spectrum of Apical Hypertrophic Cardiomyopathy

  • Research type

    Research Study

  • Full title

    The Extended Spectrum of Apical Hypertrophic Cardiomyopathy

  • IRAS ID

    227168

  • Contact name

    Rebecca Hughes

  • Contact email

    rebecca.hughes123@nhs.net

  • Sponsor organisation

    University College London

  • Clinicaltrials.gov Identifier

    Z6364106/2017/12/22, UCL Data Protection

  • Duration of Study in the UK

    3 years, 0 months, 3 days

  • Research summary

    Hypertrophic cardiomyopathy (HCM) is a common form of heart muscle disease caused by faults (mutations) in the DNA. It causes the heart muscle wall to thicken abnormally and sufferers are at risk of dying suddenly from dangerous heart rhythms. When thickening mostly affects the tip the heart, we call it Apical HCM (ApHCM). ApHCM is also linked with increased risk of death but this type of HCM is poorly understood. We have noticed that the hearts of highly-trained athletes sometimes show such abnormal thickening at the tip. When the thickness is borderline, we call it ‘relative' ApHCM. We think that relative ApHCM is not entirely innocent as other subtle heart abnormalities are also often present. By scanning the hearts of relative/ApHCM sufferers and athletes using MRI and exercise ultrasound, and studying molecules present in their blood and urine samples, we aim to discover new ways of testing for these conditions. We will also take a detailed look at the DNA of those with relative ApHCM to learn if we should be testing for specific DNA faults.

  • REC name

    London - Surrey Research Ethics Committee

  • REC reference

    18/LO/0188

  • Date of REC Opinion

    22 Mar 2018

  • REC opinion

    Further Information Favourable Opinion