Canine Mendelian disease record

Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related)

Q: What are the signs of Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related) in dogs?

Documented clinical signs include dyspnea, exercise intolerance, tachycardia, third heart sound, ascites, congestive heart failure, cough, crackle. These are signs recorded in the veterinary literature (curated by OMIA), describing the condition, not a prediction for any individual dog.

Q: What is the human equivalent of Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related)?

OMIA links Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related) to its human counterpart in OMIM (OMIM 107970, OMIM 115200, OMIM 302045, OMIM 302060, OMIM 600884, OMIM 601494, OMIM 611880), the bridge to the deeper human-medicine literature for the same underlying biology.

Q: How well studied is Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related) in dogs?

OMIA curates 145 peer-reviewed references for Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related). The full, linked citation list is on this page.

Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related). Autosomal dominant (incomplete penetrance). Observed in 97 of 266 breeds tested in the Sniff Atlas, with measured at-risk genotype frequencies drawn from 242,665 dogs (Donner 2023). Because this is a dominant trait, a single copy places a dog at risk rather than making it a silent carrier; whether the phenotype appears still depends on penetrance, modifier genes, and environment.

Dominant trait. A single copy of this variant places a dog at risk; it does not make the dog a silent carrier. The breed frequencies below are therefore at-risk frequencies, and penetrance plus modifier genes determine whether the phenotype actually appears.

OMIA identifier: OMIA:000162-9615
Inheritance: Autosomal dominant (incomplete penetrance)
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human dilated cardiomyopathy 1A

This is the canine counterpart of dilated cardiomyopathy 1A 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: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

In humans it is also called: CDCD1, cardiomyopathy, dilated, 1A, cardiomyopathy, dilated, type 1A, dilated cardiomyopathy type 1A, LMNA familial isolated dilated cardiomyopathy.

MONDO:0007269 OMIM 107970 OMIM 115200

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

The signs, in shared terms

What this looks like

The clinical signs of Dilated Cardiomyopathy risk factor (Discovered in the Doberman Pinscher; PDK4-related), recorded by OMIA using the human (HP) and mouse (MP) phenotype vocabularies applied to the dog, as the closest shared terms. Each is a model of the canine sign, not a claim the dog has the human condition. This is the phenotype-level bridge to human and mouse medicine, the layer uPheno unifies.

Clinical signs per OMIA (omia_uphenolink), termed in HP / MP / uPheno / NBO and applied to the dog as a model, not identity. See uPheno.

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.

Summary

See also gene specific entries for dilated cardiomyopathy such as: 'OMIA:002365-9615 Cardiomyopathy, dilated, RBM20-related', OMIA:002195-9615 Cardiomyopathy, dilated, PLN-related', OMIA:002796-9615 : Cardiomyopathy, dilated, LMNA-related, and OMIA:002710-9615 : Cardiomyopathy, dilated, ABCC9-related

Clinical features

Clinical features of canine dilated cardiomyopathy (DCM) can have a sudden onset and often present secondary to diminished cardiac pumping function. This can manifest as decreased oxygenated blood delivery to the body (lethargy, weakness, exercise intolerance, collapse) or pulmonary blood congestion (coughing, tachypnoea, dyspnoea) (Tidholm and Jönsson, 1996). Radiographic evidence of ascites or pleural effusion, and pulmonary oedema, are also clinical features of DCM (Harmon et al., 2017). Echocardiography may reveal a systolic murmur and hypokinesis (Tidholm et al., 2001). [IT thanks DVM student Lexie Hunter, who provided the basis of this contribution in April 2022.]

Pathology

Gross post-mortem pathological findings of canine DCM indicate eccentric left ventricular hypertrophy (Tidholm and Jönsson, 2005; Harmon et al., 2017) and secondary left atrial dilation (Dukes-McEwan et al., 2003; Tildholm et al., 2001[Veterinary Journal]). Myocardial changes seen histologically include increased interstitial collagen deposition and macrophage infiltration, in addition to reduced contractile tissue and cardiomyocyte degeneration (Gasparini et al., 2020). [IT thanks DVM student Lexie Hunter, who provided the basis of this contribution in April 2022.]

Inheritance

A juvenile form of this disorder, unique to Portugese water dogs, is autosomal recessive (Dambach et al., 1999; Alroy et al., 2000; Sleeper et al., 2002). In Doberman pinschers, Meurs et al. (2007) reported autosomal dominant inheritance with incomplete penetrance, which is, in effect, multifactorial inheritance (previously listed here incorrectly as recessive, corrected based on feeback from Lorène Massip [29/08/2025]. Oertle et al. (2023) report a recessive form of the disease in Nova Scotia Duck Tolling Retrievers.

Genetic testing

A DNA test for a linked marker of a juvenile form of this disorder (JDCM) in Portugese Water Dogs is no longer included in the OFA's list. This linked marker was presumably based on the CFA8 results of Werner et al. (2008). A DNA test for this disorder in Dobermans was also included in the OFA's list in the past. The basis for this test was the linked marker reported by Meurs et al. (2012). Given the results of Meurs et al. (2012), Owczarek-Lipska et al. (2013) and Niskanen et al. (2023), it is evident that any DNA test based on this marker will not be a good indicator of liability to this disorder in Dobermans. See gene specific entries mentioned in the 'Species-specific description' of this entry for additional information.

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 107970 Disease · OMIM 115200 Disease · OMIM 302045 Disease · OMIM 302060 Disease · OMIM 600884 Disease · OMIM 601494 Disease · OMIM 611880

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000162-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Clinical signs documented for this disease, as standardized phenotype terms. These describe the condition in the literature, not a prediction for any individual dog. Each links to Monarch.

dyspnea exercise intolerance tachycardia third heart sound ascites congestive heart failure cough crackle increase heart weight respiratory distress syncope weight loss

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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 145.

Quantitative and qualitative histopathological analysis of myocardial tissue in canine myxomatous mitral valve disease and dilated cardiomyopathy. · Vet J · 2026 · PMID 42061640
The T-wave peak-end to QT ratio is prolonged and minimally influenced by RR interval in Doberman Pinschers with subclinical dilated cardiomyopathy. · J Am Vet Med Assoc · 2025 · PMID 40324474
Cardiology's best friend: Using naturally occurring disease in dogs to understand heart disease in humans. · J Mol Cell Cardiol Plus · 2025 · PMID 40686503
Radiographic features of cardiogenic pulmonary oedema in dogs with dilated cardiomyopathy. · J Small Anim Pract · 2025 · PMID 40101290
Role of diet as a predisposing factor for dilated cardiomyopathy in dogs: A narrative review. · Vet Sci · 2025 · PMID 41295744
Assessment of myocardial function in Retrievers with dilated cardiomyopathy using 2D speckle tracking echocardiography: a pilot study. · Front Vet Sci · 2024 · PMID 39703409

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 risk factor (Discovered in the Doberman Pinscher; PDK4-related) and see the odds for their puppies. Single dominant variant, exact Mendelian math.

Parent A

Parent B

NDAffected

NNUnaffected

Unaffected50%

Affected50%

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 risk factor (Discovered in the Doberman Pinscher; PDK4-related) looks like in your dog's breed.

At-risk frequency by breed

Top 25 well-sampled breeds (n ≥ 50)

Maximum at-risk 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%25%50%

Dobermann Pinscher37.4% · n 2,219

37.4%n 2,219

Kromfohrlander33.0% · n 197

33.0%n 197

Nova Scotia Duck Tolling Retriever24.6% · n 63

24.6%n 63

Rhodesian Ridgeback21.8% · n 323

21.8%n 323

Cardigan Welsh Corgi19.2% · n 125

19.2%n 125

Parson Russell Terrier17.7% · n 181

17.7%n 181

Russell Terrier17.6% · n 239

17.6%n 239

Yorkshire Terrier13.4% · n 8,367

13.4%n 8,367

Treeing Walker Coonhound12.9% · n 336

12.9%n 336

Spanish Water Dog12.0% · n 96

12.0%n 96

Neapolitan Mastiff11.7% · n 90

11.7%n 90

Australian Shepherd11.5% · n 2,296

11.5%n 2,296

Mi Ki11.5% · n 61

11.5%n 61

Miniature Pinscher9.7% · n 658

9.7%n 658

Fox Terrier Wire9.3% · n 183

9.3%n 183

n = 15,434 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 risk factor (Discovered in the Doberman Pinscher; PDK4-related) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	At-risk frequency	Wilson 95% CI	n tested
Dobermann Pinscher	37.4%	[35.4%, 39.5%]	2,219
Kromfohrlander	33.0%	[26.8%, 39.8%]	197
Nova Scotia Duck Tolling Retriever	24.6%	[15.6%, 36.5%]	63
Rhodesian Ridgeback	21.8%	[17.7%, 26.6%]	323
Cardigan Welsh Corgi	19.2%	[13.3%, 27.0%]	125
Parson Russell Terrier	17.7%	[12.8%, 23.9%]	181
Russell Terrier	17.6%	[13.3%, 22.9%]	239
Yorkshire Terrier	13.4%	[12.7%, 14.1%]	8,367
Treeing Walker Coonhound	12.9%	[9.8%, 17.0%]	336
Spanish Water Dog	12.0%	[6.9%, 20.0%]	96
Neapolitan Mastiff	11.7%	[6.6%, 19.9%]	90
Australian Shepherd	11.5%	[10.3%, 12.9%]	2,296
Mi Ki	11.5%	[5.7%, 21.8%]	61
Miniature Pinscher	9.7%	[7.7%, 12.2%]	658
Fox Terrier Wire	9.3%	[5.9%, 14.4%]	183
Chinese Crested	8.3%	[5.3%, 12.9%]	204
German Wirehaired Pointer	6.5%	[2.9%, 14.0%]	84
Papillon	6.1%	[3.5%, 10.3%]	197
Australian Cattle Dog	5.1%	[3.9%, 6.7%]	982
French Bulldog	3.4%	[3.1%, 3.7%]	13,114
Miniature American Shepherd	3.1%	[2.3%, 4.1%]	1,476
Staffordshire Bull Terrier	3.1%	[2.0%, 4.8%]	610
Poodle Miniature	3.0%	[2.5%, 3.6%]	3,555
Boston Terrier	2.8%	[2.3%, 3.4%]	3,702
Cocker Spaniel	2.8%	[2.1%, 3.6%]	1,881

Top 25 of 72 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 25 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "at-risk dogs observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed	Estimate	Wilson 95% CI	n tested
Lowchen	75.0%	[30.1%, 95.4%]	4
Affenpinscher	50.0%	[21.5%, 78.5%]	8
Terrier Brazileiro	40.0%	[11.8%, 76.9%]	5
German Hunting Terrier	34.6%	[15.1%, 61.1%]	13
Lancashire Heeler	29.4%	[13.3%, 53.1%]	17
Sealyham Terrier	25.0%	[4.6%, 69.9%]	4
Lacy Dog	23.4%	[12.1%, 40.4%]	32
Redbone Coonhound	17.2%	[7.6%, 34.5%]	29
Manchester Terrier Toy	16.7%	[4.7%, 44.8%]	12
Welsh Terrier	14.3%	[5.0%, 34.6%]	21
Cesky Terrier	12.5%	[1.3%, 60.4%]	4
Lakeland Terrier	12.5%	[2.2%, 47.1%]	8
Mcnab	12.5%	[4.7%, 29.4%]	28
American Water Spaniel	8.3%	[0.9%, 48.3%]	6
Silky Terrier	7.1%	[2.0%, 22.6%]	28
Maremma Sheepdog	6.8%	[2.1%, 19.5%]	37
Tibetan Mastiff	6.3%	[1.7%, 20.1%]	32
Schapendoes	5.6%	[1.7%, 16.4%]	45
Bedlington Terrier	4.5%	[0.5%, 32.1%]	11
Plott	4.0%	[0.7%, 19.5%]	25
Komondor	3.6%	[0.4%, 26.8%]	14
Irish Terrier	2.9%	[0.5%, 14.5%]	35
American Hairless Rat Terrier	2.7%	[0.5%, 13.8%]	37
Belgian Sheepdog	2.5%	[0.4%, 12.9%]	40
Tibetan Spaniel	1.3%	[0.1%, 11.2%]	39

169 additional breeds in the Donner 2023 cohort were tested but showed no at-risk genotypes.

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 at-risk 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:000162-9615.
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:000162-9615, 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:000162-9615 · Donner et al. 2023