Completed Heart, Stroke & Blood Brain & Nervous System

Defining the genetics, biomarkers and outcomes for dilated cardiomyopathy: a prospective multi-centre study (GO-DCM)

In plain English

AI plain-English summary

Two thousand people with dilated cardiomyopathy will undergo heart scans, genetic sequencing, and blood tests to uncover why the heart muscle weakens and why outcomes vary so widely. Dilated cardiomyopathy is a leading cause of heart failure and sudden death, yet in most patients the underlying cause remains unknown. Current treatments are blunt—they manage symptoms rather than target the disease’s root. This study combines three tools—cardiac MRI, whole genome sequencing, and blood-based biomarkers—to map the disease in unprecedented detail. A particular focus is cardiac fibrosis, the scarring that stiffens the heart, which will be tracked through imaging and circulating markers. High-field spectroscopy will also probe how specific genetic variants alter heart metabolism. If successful, this research could transform how dilated cardiomyopathy is diagnosed and managed. Instead of a one-size-fits-all approach, doctors might stratify patients by genetic risk and fibrosis burden, enabling earlier, more personalised interventions. The findings could also identify new drug targets, particularly for fibrosis, which currently has no approved therapy. This is the largest prospective study of its kind, and its results will reshape clinical guidelines for a condition that quietly disables thousands of people each year.

View original technical description
The causation of dilated cardiomyopathy (DCM) is unknown in the majority of cases and patient outcomes remain poor and unpredictable. Here we will use cardiac magnetic resonance (CMR) imaging and spectroscopy (MRS) combined with whole genome sequencing (WGS) and blood-based biomarkers to better understand DCM. We will recruit 2,000 DCM patients and characterize cardiac morphology, function and tissue composition using CMR. Through WGS we will assess interactions between DNA variants and seek to discover new genes and genomic structural perturbations underlying DCM, while assessing for potential environmental interactions. A particular focus will be on cardiac fibrosis, which will be characterized using CMR and circulating biomarkers. High field (7T) MRS will be used to asses the metabolic effects of titin truncating variants in DCM patients and the general population. Overall, this program will be the largest prospective study of DCM to date and will provide new insights into DCM pathogenesis and risk.

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Researchers

Stuart Cook (EPMC Awardee)

Related Research

Grants with similar aims, by meaning.

Defining the genetics, biomarkers and outcomes for dilated cardiomyopathy: a prospective multi-centre observational study GO-DCM
Defining the genetics, biomarkers and outcomes for dilated cardiomyopathy: a prospective multi-centre observational study
Enabling advances in diagnosis, patient stratification and treatment for dilated cardiomyopathy patients and families.
Enabling advances in diagnosis, patient stratification and treatment for dilated cardiomyopathy patients and families (DCM Next)
Determining the impact of a genetic diagnosis in patients and families with dilated cardiomyopathy (Dr Douglas Cannie)

Original classification

Special Project

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