What is the human equivalent of Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM)?

OMIA links Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) to its human counterpart in OMIM (OMIM 613172), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM)

Q: How is Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) inherited in dogs?

Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) follows a Autosomal recessive inheritance pattern. It has been observed in 10 of 266 breeds screened in the Sniff Atlas.

Q: How well studied is Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) in dogs?

OMIA curates 7 peer-reviewed references for Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM). The full, linked citation list is on this page.

Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM). Autosomal recessive. Observed in 10 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,662 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:002365-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human dilated cardiomyopathy 1DD

This is the canine counterpart of dilated cardiomyopathy 1DD in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene.

In humans it is also called: CMD1DD, cardiomyopathy, dilated, 1DD, cardiomyopathy, dilated, type 1Dd, dilated cardiomyopathy type 1DD, RBM20 familial isolated dilated cardiomyopathy.

MONDO:0013168 OMIM 613172

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Clinical features

Harmon et al. (2017): "describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days)." Median lifespan is shorter (3.06 years) in standard schnauzers homozygous for the mutation compared to those heterozygous (15.11 years) or wild-type (15.18 years) (Leach et al., 2022) [IT thanks DVM student Caitlin Henning for contribution to this entry in April 2022].

Molecular genetics

Leach et al. (2014) report that dilated cardiomyopathy in standard schnauzers is associated with a homozygous 22 bp deletion in RBM20. Leach et al. (2021): "homozygosity for the variant was highly associated with DCM and approximately 80% shortened lifespan."

Pathology

In the study by Harmon et al. (2017), postmortems performed on 5 SSNZ with DCM revealed moderate to marked cardiomegaly with biventricular dilation in all dogs. Histopathological examination performed on the left ventricle and interventricular septum showed myocyte degeneration in 4 out of 5 SSNZ, and increased interstitial fibrosis and myocyte attenuation in 3 SSNZ. [IT thanks DVM student Regis Tang, who provided the basis of this contribution in April 2022.]

Prevalence

Leach et al. (2022) genotyped 2136 samples from 14 different dog breeds for the associated RBM20 variant. "... approximately 21% of all tested SSNZ [standard schnauzer] samples carried at least one allele of the RBM20 variant, with 93% of those samples testing HET for the gene variant. Only 1.5% of the tested SSNZ samples were HOM for the gene variant. ... The RBM20 variant was also identified in GSNZ [giant schnauzer] dogs and was associated with DCM and premature death. The gene variant was not found in any of the 36 samples from breeds other than SSNZ or GSNZ."

Inheritance

Harmon et al. (2017): "The occurrence of early onset DCM [dilated cardiomyopathy] in multiple closely related standard schnauzers suggests a familial predisposition in this breed. Pedigree analysis confirmed common ancestry for all DCM affected dogs with a most likely autosomal recessive mode of inheritance."

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 613172 Gene · OMIM 613171

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002365-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 7.

The role of personalized medicine in companion animal cardiology. · Vet Clin North Am Small Anim Pract · 2023 · PMID 37423841
Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. · J Vet Cardiol · 2022 · PMID 34144877
Genetic basis of dilated cardiomyopathy in dogs and its potential as a bidirectional model. · Animals (Basel) · 2022 · PMID 35804579
Screening for dilated cardiomyopathy in dogs. · J Vet Cardiol · 2022 · PMID 34732313
Dilated cardiomyopathy in standard schnauzers: Retrospective study of 15 cases. · J Am Anim Hosp Assoc · 2017 · PMID 27841675
Dilated cardiomyopathy in standard schnauzers with a homozygous 22 bp deletion in RBM20. · Proceedings of the 32nd ACVIM Forum, 2014 June 4–7; Nashville, TN, USA. · 2014

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) looks like in your dog's breed.

Carrier frequency by breed

Top 10 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%10%20%

Schnauzer Standard3.3% · n 75

3.3%n 75

German Shepherd0.26% · n 15,648

0.26%n 15,648

Saint Bernard<0.1% · n 721

<0.1%n 721

Australian Shepherd<0.1% · n 2,296

<0.1%n 2,296

Great Pyrenees<0.1% · n 1,985

<0.1%n 1,985

Schnauzer Miniature<0.1% · n 4,638

<0.1%n 4,638

Siberian Husky<0.1% · n 9,035

<0.1%n 9,035

Labrador Retriever<0.1% · n 16,856

<0.1%n 16,856

Border Collie<0.1% · n 6,714

<0.1%n 6,714

American Staffordshire Terrier<0.1% · n 42,793

<0.1%n 42,793

n = 100,761 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Dilated Cardiomyopathy (Discovered in the Schnauzer; DCM) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Schnauzer Standard	3.3%	[1.0%, 10.2%]	75
German Shepherd	0.26%	[0.2%, 0.3%]	15,648
Saint Bernard	<0.1%	[0.0%, 0.7%]	721
Australian Shepherd	<0.1%	[0.0%, 0.3%]	2,296
Great Pyrenees	<0.1%	[0.0%, 0.2%]	1,985
Schnauzer Miniature	<0.1%	[0.0%, 0.1%]	4,638
Siberian Husky	<0.1%	[0.0%, 0.1%]	9,035
Labrador Retriever	<0.1%	[0.0%, 0.0%]	16,856
Border Collie	<0.1%	[0.0%, 0.1%]	6,714
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,793

256 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002365-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:002365-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002365-9615 · Donner et al. 2023