{"topic_id":"companion_breed_health_welsh_springer_spaniel_omia4198_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_welsh_springer_spaniel_omia4198_dog\ncategory: companion-breed-health\ntitle: \"Welsh Springer Spaniel — Cardiomyopathy, dilated, PLN-related (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/welsh_springer_spaniel_omia4198_4198.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 222\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_welsh_springer_spaniel_omia4198_dog/01_companion_breed_health_welsh_springer_spaniel_omia4198_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: \"Welsh Springer Spaniel — Cardiomyopathy, dilated, PLN-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002195/9615/\"\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# Welsh Springer Spaniel — Cardiomyopathy, dilated, PLN-related (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: Welsh Springer Spaniel (Dog)`\n- `Disorder: `\n- `Clin feat: Yost et al. (2019): Clinical evaluation of the proband and four littermates demonstrated echocardiographically evident left ventricular dilation, systolic dysfunction and ventricular arrhythmias . . . . One affected female littermate is still alive at 44 months of age and is managed with routine medical care including an ace inhibitor (enalapril), inodilator (pimobendan) and an antiarrhythmic (sotalol).`\n- `Defect: yes`\n- `Pathology: Yost et al. (2019): Necropsy evaluation of the dogs that died suddenly identified gross findings of mild biventricular dilation, and histologic findings of moderate to diffuse fatty infiltration of the left ventricle, myofiber loss and interstitial edema, mild interstitial fibrosis and mild lymphocytic infiltration.`\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- Gene: Entrez Gene ID 388207564 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Yost et al. (2019) \"characterized genetic aspects of familial DCM in a [Welsh springer spaniel] canine model with a high incidence of sudden death. A missense G > A mutation in exon 1 of the phospholamban [PLN] gene that changed . . .  [the 9th] amino acid from arginine to histidine [R9H] was identified in affected dogs. This variant was predicted to be deleterious.  . . .  The dam . . . , the sir…\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- 2019. The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model. Gene — PubMed:PMID30794913 | DOI:10.1016/j.gene.2019.02.022 — OMIA Phene_Article / Article\n- 2022. Screening for dilated cardiomyopathy in dogs. J Vet Cardiol — PubMed:PMID34732313 | DOI:10.1016/j.jvc.2021.09.004 — OMIA Phene_Article / Article\n- 2003. Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy. J Vet Cardiol — PubMed:PMID19081360 | DOI:10.1016/S1760-2734(06)70047-9 — OMIA Phene_Article / Article\n- 2022. Genetic basis of dilated cardiomyopathy in dogs and its potential as a bidirectional model. Animals (Basel) — PubMed:PMID35804579 | DOI:10.3390/ani12131679 — OMIA Phene_Article / Article\n- 2023. The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract — PubMed:PMID37423841 | DOI:10.1016/j.cvsm.2023.05.016 — OMIA Phene_Article / Article\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:609909 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613874 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:172405 (type: gene) — 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 — Welsh Springer Spaniel — Cardiomyopathy, dilated, PLN-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Welsh Springer Spaniel — Cardiomyopathy, dilated, PLN-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/30794913/","retrieved":"","ref":"PMID 30794913","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":842,"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."}