{"topic_id":"companion_breed_health_borzoi_dilated_cardiomyopathy_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_borzoi_dilated_cardiomyopathy_dog\ncategory: companion-breed-health\ntitle: \"Borzoi — Dilated cardiomyopathy (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/borzoi_dilated_cardiomyopathy_327.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 676\nverification:\n  method: substring_match\n  claims: 8\n  passed: 8\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_borzoi_dilated_cardiomyopathy_dog/01_companion_breed_health_borzoi_dilated_cardiomyopathy_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Borzoi — Dilated cardiomyopathy (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000162/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Borzoi — Dilated cardiomyopathy (hereditary; OMIA-verified breed predisposition)\n\nSource: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Breed: Borzoi (Dog)`\n- `Disorder: Dilated cardiomyopathy`\n- `Mode of inheritance: Multifactorial`\n- `Summary: See also gene specific entries for dilated cardiomyopathy such as: 'a href=../../../../../../OMIA002365/9615/OMIA:002365-9615/a Cardiomyopathy, dilated, RBM20-related', a href=../../../../../../OMIA002195/9615/OMIA:002195-9615 /aCardiomyopathy, dilated, PLN-related', a href=../../../../../../OMIA002796/9615/OMIA:002796-9615/a : Cardiomyopathy, dilated, LMNA-related, and a href=../../../../../../OMIA002710/9615/OMIA:002710-9615/a : Cardiomyopathy, dilated, ABCC9-related`\n- `Clin feat: 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.]`\n- `Defect: yes`\n- `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.]`\n- `Gen test: A DNA test for a linked marker of a juvenile form of this disorder (JDCM) in Portugese Water Dogs is no longer included in thenbsp; 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.`\n## Associated gene(s)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- OMIA entry symbol: DCM (no structured Phene_Gene link)\n\n## Causal variant(s)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- Variant: chromosome 10; nt change XM_038549826.1:c.261C>A; protein XP_038405754.1:p.(Y87*); pathogenicity class 1 — OMIA Variant / Variant_Phene\n\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- 1991. Myocardial L-Carnitine Deficiency in a Family of Dogs with  Dilated Cardiomyopathy. Journal of the American Veterinary Medical Association — PubMed:PMID2019534 — OMIA Phene_Article / Article\n- 1992. Respiratory Chain Defect of Myocardial Mitochondria in Idiopathic Dilated Cardiomyopathy of Doberman-Pinscher Dogs. Canadian Journal of Physiology and Pharmacology — PubMed:PMID1338376 — OMIA Phene_Article / Article\n- 1994. Dynamic Cardiomyoplasty for Dilated Cardiomyopathy in Dogs. Seminars in Veterinary Medicine and Surgery - Small Animal — PubMed:PMID7839036 — OMIA Phene_Article / Article\n- 1995. Activation of the renin-angiotensin system in dogs with asymptomatic and symptomatic dilated cardiomyopathy. Research in Veterinary Science — PubMed:PMID8525110 — OMIA Phene_Article / Article\n- 1996. M-mode echocardiographic diagnosis of dilated cardiomyopathy in giant breed dogs. Zentralblatt Fur Veterinarmedizin - Reihe A — PubMed:PMID8779804 — OMIA Phene_Article / Article\n- 1996. Dilated cardiomyopathy in the Newfoundland - a study of 37 cases (1983-1994). J Am Anim Hosp Assoc — PubMed:PMID8906721 | DOI:10.5326/15473317-32-6-465 — OMIA Phene_Article / Article\n- 1996. Idiopathic dilated cardiomyopathy in Dalmatians - nine cases (1990-1995). Journal of the American Veterinary Medical Association — OMIA Phene_Article / Article\n- 1997. Deficiencies of myocardial troponin-t and creatine kinase mb isoenzyme in dogs with idiopathic dilated cardiomyopathy. American Journal of Veterinary Research — PubMed:PMID8989489 — OMIA Phene_Article / Article\n- 1997. Increased expression of promatrix METALLOPROTEINASE-9 and neutrophil elastase in canine dilated cardiomyopathy. Cardiovascular Research — PubMed:PMID9205552 — OMIA Phene_Article / Article\n- 1997. Survival and prognostic factors in 189 dogs with dilated cardiomyopathy. Journal of the American Animal Hospital Association — PubMed:PMID9204475 — OMIA Phene_Article / Article\n- 1996. Canine dilated cardiomyopathy - a study of 189 cases in 38 breeds. Veterinary Quarterly — OMIA Phene_Article / Article\n- 1997. Results of the multicenter spaniel trial (must) - taurine- and carnitine-responsive dilated cardiomyopathy in american cocker spaniels with decreased plasma taurine concentration. Journal of Veterinary Internal Medicine — PubMed:PMID9298474 — OMIA Phene_Article / Article\n- (134 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.\n- OMIM:107970 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:115200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:611880 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:302060 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:302045 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:600884 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:601494 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  note: \"Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose.\"\n","sources":["companion-breed-health — Borzoi — Dilated cardiomyopathy (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Borzoi — Dilated cardiomyopathy (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2019534/","retrieved":"","ref":"PMID 2019534","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1393,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}