A non-invasive tool to diagnose ACM/DCM in asymptomatic children
Research type
Research Study
Full title
Define the use of buccal mucosa smears as a novel clinical tool to improve diagnosis, genotyping and risk stratification in children with arrhythmogenic (ACM) and dilated cardiomyopathy (DCM)
IRAS ID
226427
Contact name
Angeliki Asimaki
Contact email
Sponsor organisation
JRES, St George's University of London & St George's University Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Every week in the UK, 12 apparently healthy and fit individuals under the age of 35 die suddenly, a tragic event known as sudden cardiac death (SCD). The primary cardiomyopathies (arrhythmogenic; ACM, dilated; DCM and hypertrophic; HCM) are well-recognized causes of SCD. We have shown that ACM and DCM affect the distribution of proteins at the cardiac cell-cell junctions, the areas where cardiac cells are mechanically and electrically coupled. These changes precede and promote structural and functional changes in the myocardium. This is of pivotal importance, particularly in children who may be carrying a disease-causing mutation (and hence be at risk of SCD) but do not yet manifest any evidence of disease (and hence cannot be risk-stratified by conventional diagnostic methods). Nonetheless, the primary material to establish such an early diagnosis is a heart sample. A heart biopsy is an invasive process that comes with risks and is not performed unless absolutely necessary. And it is impossible to justify such a sample from a child that shows no symptoms of heart disease. We recently showed that buccal cells show changes in protein distribution equivalent to those exhibited by the heart, hence providing us with a surrogate tissue for the myocardium. We aim to use buccal smears as a means to identify those children that may be at risk of SCD. Because buccal mucosa cells can be readily obtained without any risk or discomfort, we believe that this might be a game-changing tool, especially in children with inherited cardiomyopathies.
REC name
London - Queen Square Research Ethics Committee
REC reference
17/LO/0840
Date of REC Opinion
26 Jun 2017
REC opinion
Further Information Favourable Opinion