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A heart muscle disease in which the main pumping chamber enlarges and contracts weakly, and a leading cause of heart failure. The largest study behind this page found 70 genome-wide significant loci and pointed to higher body weight and higher systolic blood pressure as potential causes.
What this condition connects to
Prevalence
Not taken from these records, which report study sizes rather than how common the disease is. The largest study behind this page used 9,365 cases and 946,368 controls (Jurgens et al., Nature Genetics 2024, PMID 39572784).
Inheritance
Both rare and common: some cases are caused by a single rare variant, and a polygenic background of common variants shifts risk for everyone — the 2024 study found that this background mattered differently depending on whether a rare pathogenic variant was present.
Dilated cardiomyopathy (DCM) is a disease of the heart muscle in which the left ventricle stretches and pumps weakly. It is a leading cause of systolic heart failure, and the studies behind this page describe its causes as still largely elusive. Some cases are explained by a single rare variant; the three genome-wide studies here look instead at the common variation that shifts risk across a population.
The largest study: 70 loci and two modifiable risk factors
The 2024 study combined 9,365 cases and 946,368 controls in a genome-wide and multitrait analysis and identified 70 genome-wide significant loci, mapped to 63 prioritized genes. Its enrichment analyses point to the heart muscle cell and its contractile machinery as the centre of the disease. A polygenic risk score built from it predicted DCM in several ancestry groups and was associated with systolic heart failure, and its contribution differed depending on whether a person also carried a rare pathogenic variant. Mendelian randomization in the same study identified higher body weight and higher systolic blood pressure as potential causes — both things that can be changed. Two positions on this page come from it: rs17226476 (near LSM3) and rs4731517 (CCDC136, from the multitrait analysis).
Opposite directions: dilated and hypertrophic cardiomyopathy
A 2021 study analysed the two main heart muscle diseases side by side — 5,521 DCM cases and 1,733 cases of hypertrophic cardiomyopathy — together with nine measurements of the left ventricle in 19,260 UK Biobank participants whose hearts were structurally normal. It found 13 loci for DCM, 16 for hypertrophic cardiomyopathy and 23 for the ventricle measurements, and its central finding is that the shared pathways act in opposite directions: genetic variation that makes the ventricle contract more strongly raises the risk of the thickened-muscle disease and lowers the risk of the dilated one. Two positions here come from it: rs10927875 (ZBTB17, odds ratio 1.14) and rs2182400 (SVIL, odds ratio 1.10, from the multitrait analysis).
Two loci on chromosomes 3 and 22
A third study, with 2,719 cases and 4,440 controls in its discovery step, identified and replicated two new loci, on chromosome 3p25.1 and chromosome 22q11.23, and confirmed two known ones near BAG3 and HSPB7. The lead position at 3p25.1 is on this page: rs62232870, which this catalogue maps to LSM3; the study's own functional work points to SLC6A6, a taurine transporter, as the most likely gene there. The lead position at 22q11.23, where the study favours SMARCB1, is not in this catalogue. A score counting risk alleles at the four loci was associated with a 3-fold higher risk for people carrying 8 risk alleles compared with those carrying 5.
Clinical detail
What is actually diagnosed and treated here
Dilated cardiomyopathy is diagnosed by a clinician, with heart imaging — not from a common genotype. None of the five variants on this page is used by any guideline to predict, screen for or diagnose it.
Genetic testing in cardiology looks for rare, high-impact variants in single genes, and that is a separate question from the common positions here, each of which shifts risk a little across a population. Symptoms such as breathlessness, swelling or reduced exercise tolerance, and any question about treatment, belong with a cardiologist. The finding with the most practical weight in these studies is the one that does not need a genotype at all: body weight and systolic blood pressure, both of which can be changed, were identified as potential causes.
Related variants MyGeneLog™ checks for
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Dilated Cardiomyopathy comes down to these specific, well-studied positions — not a diagnosis.
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Dilated cardiomyopathy is a heart muscle disease in which the left ventricle, the main pumping chamber, enlarges and contracts weakly. It is a leading cause of systolic heart failure.
Is dilated cardiomyopathy genetic?
Partly. Some cases are caused by a single rare variant, and genome-wide studies have found many common positions that each shift risk a little — 70 loci in the largest study behind this page, which used 9,365 cases.
Which genes are linked to dilated cardiomyopathy on this page?
The five positions here are mapped to LSM3, CCDC136, ZBTB17 and SVIL. A mapped gene is a location; at one of them the source study names SLC6A6, a taurine transporter, as the more likely gene.
Can these variants predict whether I will get dilated cardiomyopathy?
No. They are population-level findings of small effect, and no guideline uses them to predict the disease. Higher body weight and higher systolic blood pressure were identified as potential causes, and both can be changed with a clinician's help.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.