--- license: permission_granted topic_id: companion_breed_health_maine_coon_omia4436_cat category: companion-breed-health title: "Maine Coon — Cardiomyopathy, hypertrophic, TNNT2-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "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." source_file: pdf-raw/breed-health/maine_coon_omia4436_4436.txt date_parsed: 2026-08-02 tokens_estimated: 228 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_maine_coon_omia4436_cat/01_companion_breed_health_maine_coon_omia4436_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Maine Coon — Cardiomyopathy, hypertrophic, TNNT2-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002304/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Maine Coon — Cardiomyopathy, hypertrophic, TNNT2-related (hereditary; OMIA-verified breed predisposition)
Source: 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.
Claims
Breed: Maine Coon (Cat)Disorder:Mode of inheritance: Probably autosomal recessiveClin feat: McNamara et al. (2020): “The proband was a privately-owned male pure-bred Maine Coon. At 8 months of age, he presented with left ventricular, right atrial, and borderline left atrial dilatation and borderline septal hypertrophy, with preserved-to-elevated systolic function …, when compared to reference echocardiography values for the Maine Coon (Drourr et al., 2005). Diastolic function could not be quantified as a result of fusion of E and A waves. Progressive enlargement of all four chambers of the heart was noted at 14 months of age, while borderline septal hypertrophy and preserved systolic function was still noted. This was diagnosed as a primary unclassified cardiomyopathy with possible early congestive heart failure.”Defect: yes
Associated gene(s)
Derived 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.
- OMIA molecular-genetics note: McNamara et al. (2020) “identified a novel, homozygous intronic variant in cardiac troponin T (TNNT2)” in a “Maine Coon [cat] with cardiomyopathy that tested negative for the MYBPC3 A31P variant” [OMIA000515-9685]. “In silico analysis of the variant suggested that it may affect normal splicing of exon 3 of TNNT2. Both parents tested heterozygous for the mutation, but were unaffected by the disease…
Evidence (references)
Derived 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.
- 2020. A novel homozygous intronic variant in TNNT2 associates with feline cardiomyopathy. Front Physiol — PubMed:PMID33304277 | DOI:10.3389/fphys.2020.608473 — OMIA Phene_Article / Article
- 2005. Measurement of M-mode echocardiographic parameters in healthy adult Maine Coon cats. J Am Vet Med Assoc — PubMed:PMID15776945 | DOI:10.2460/javma.2005.226.734 — OMIA Phene_Article / Article
- 2021. The feline cardiomyopathies: 1. General concepts. J Feline Med Surg — PubMed:PMID34693806 | DOI:10.1177/1098612X211021819 — OMIA Phene_Article / Article
- 2022. The TNNT2:c.95-108G>A variant is common in Maine Coons and shows no association with hypertrophic cardiomyopathy. Anim Genet — PubMed:PMID35634705 | DOI:10.1111/age.13223 — OMIA Phene_Article / Article
- 2024. Genetic basis of hypertrophic cardiomyopathy in cats. Curr Issues Mol Biol — PubMed:PMID39194734 | DOI:10.3390/cimb46080517 — OMIA Phene_Article / Article
- 2024. Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Front Vet Sci — PubMed:PMID38371598 | DOI:10.3389/fvets.2024.1327081 — OMIA Phene_Article / Article
- 2024. Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Front Vet Sci — PubMed:PMID39188901 | DOI:10.3389/fvets.2024.1458433 — OMIA Phene_Article / Article
- 2025. Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing. Sci Rep — PubMed:PMID39890868 | DOI:10.1038/s41598-025-87852-5 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived 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.
- OMIM:191045 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:601494 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612422 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:115195 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" 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."