{"topic_id":"companion_species_health_feline_familial_hcm_cat","category":"companion-species-health","context":"---\nlicense: permission_granted\ntopic_id: companion_species_health_feline_familial_hcm_cat\ncategory: companion-species-health\ntitle: \"Cat (Felis catus) — Feline familial HCM (hereditary; OMIA-verified species predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump.\"\nsource_file: pdf-raw/species-health/cat_feline_familial_hcm_881.txt\ndate_parsed: 2026-08-24\ntokens_estimated: 1725\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-24\nrecovered: false\npath: companion-species-health/companion_species_health_feline_familial_hcm_cat/01_companion_species_health_feline_familial_hcm_cat.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: \"Cat (Felis catus) — Feline familial HCM (hereditary; OMIA-verified species predisposition)\"\n  url: \"https://omia.org/OMIA000515/9685/\"\n  retrieved: \"2026-08-24\"\n  ref: \"OMIA species-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 (species-specific disorder entries)\"\n  needs_review: false\n\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\n# Cat (Felis catus) — Feline familial HCM (hereditary; OMIA-verified species predisposition)\n\nSource: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to `source_file`; every claim below is a C1 byte-substring of it.\n\n## Claims\n\n- `Species: Cat (Felis catus)`\n- `Disorder: Feline familial HCM`\n- `Summary: Feline hypertrophic cardiomyopathy (HCM), characterized by left ventricular hypertrophy, is the most common heart disease in domestic cats. Information relating to causative mutations in MYBPC3 were previously listed here and have been moved to gene specific entries:&nbsp; ' OMIA:002951-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant' and ' OMIA:002952-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive' [30/4/2025].&nbsp; Other forms of inherited hypertrophic cardiomyopathy have been reported - for examples see ' OMIA:002212-9685 Cardiomyopathy, hypertrophic, MYH7-related', ' OMIA:002316-9685 Cardiomyopathy, hypertrophic, ALMS1-related' and ' OMIA:002304-9685 Cardiomyopathy, hypertrophic, TNNT2-related'. This entry was originally edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and has been updated.`\n- `Clin feat: About half or more of cats with HCM can appear clinically normal, but left ventricular hypertrophy can be identified by ultrasonography, and abnormal auscultation can be detected, such as systolic heart murmurs, gallop, and arrhythmia (Payne et al., 2010; Trehiou-Sechi et al., 2012). First clinical signs appear in young adults or adults, although Ragdoll cats may have an earlier onset than other breeds. Clinical presentation of HCM can be attributed to cardiac failure and affected cats can present with signs of congestive heart failure (increased respiratory effort, lethargy and exercise intolerance) and associated pulmonary edema, pleural effusion and ascites (Trehiou-Sechi et al., 2012). Other clinical signs can be caused by arterial thromboembolism (Trehiou-Sechi et al., 2012), such as bilaterally painful, contracted hindlimb muscles, bilateral hindlimb ischemia, and pulseless rear limbs with blanched pads. Clinical severity may be correlated to genotype (heterozygous vs. homozygous for the causative mutation, Meurs et al., 2005). For cats with moderate to severe HCM, increased levels of cardiac biomarkers, such as N-terminal pro B-type natriuretic peptide and troponin-I, may be seen but are less useful as a screening tool for breeding of Maine Coon and Ragdoll cats (Häggström, Luis Fuentes, &amp; Wess, 2015). [IT thanks DVM students Jane Ang and Dongyue Du for contributions to this entry in April 2022]. Stern et al. (2023) report results from investigations of a \"research colony of purpose-bred cats carrying the A31P mutation in MYBPC3 ... . Cardiac function in four generations was assessed by periodic echocardiography and measurement of blood biomarkers. Results showed that HCM penetrance was age-dependent, and that penetrance occurred earlier and was more severe in successive generations, especially in homozygotes. Homozygosity was also associated with progression from preclinical to clinical disease. A31P homozygous cats represent a heritable model of HCM with early disease penetrance and a severe phenotype ... .\"`\n- `Pathology: For cats with mild to moderate HCM, left ventricular (LV) wall thickening can be identified on echocardiography (Häggström, Fuentes &amp; Wess, 2015). The thickened wall results in LV diastolic dysfunction, an increase in LV diastolic pressure and ultimately an increase in left atrial (LA) pressure (Kittleson &amp; Côté, 2021). In severe cases, features will further include LA enlargement, enlarged pulmonary vein and pulmonary oedema (Kittleson &amp; Côté, 2021). Right heart disease may be present, but it is unlikely to progress to right-side CHF because the degree of pulmonary hypertension is usually mild (Kittleson &amp; Côté, 2021). Histologically, the cardiac muscle shows myofibrillar or myocyte disarray (Kittleson et al., 1999). The MYBPC3 mutations do not eliminate the protein, but reduce the amount present in cardiac muscle. [IT thanks DVM student Dongyue Du for contributions to this entry in April 2022].`\n- `Prevalence: Hypertrophic cardiomyopathy is the most common cardiac disease in domestic cats. Longeri et al. (2013) reported the results of an extensive survey of the three MYBPC3 reported mutations (see ' OMIA:002951-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal dominant' and ' OMIA:002952-9685 : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive') in 1855 cats of 28 breeds, with echocardiograph data available of 446 of these cats: \"The MYBPC3 A31P and R820W were restricted to MCO [Maine Coon] and RD Ragdoll] respectively. Both purebred and random bred cats had HCM and the incidence increased with age. The MYBPC3 A74T polymorphism was not associated with any phenotype. HCM was most prevalent in MCO homozygote for the A31P mutation and the penetrance increased with age. The penetrance of the heterozygote genotype was lower (0.08) compared to the P/P genotype (0.58) in MCO. . . . A31P mutation occurs frequently in MCO cats. The high incidence of HCM in homozygotes for the mutation supports the causal nature of the A31P mutation. Penetrance is incomplete for heterozygotes at A31P locus, at least at a young age. The A74T variant does not appear to be correlated with HCM.\" O'Donnell et al. (2021) evaluated \"the presence of the known MYBPC3 and MYH7 variants in a population of cats with HCM. DNA was isolated from samples collected from non-Ragdoll and non-Maine Coon domestic cats diagnosed with HCM through the North Carolina State University College of Veterinary Medicine and genotyped for the three variants. One-hundred and three DNA samples from cats with HCM were evaluated from domestic shorthair, domestic longhair and purebred cats. All samples were wt for the MYBPC3 and MYH7 variants. Although this study was limited by its inclusion of cats from one tertiary hospital, the lack of these MYBPC3 and MYH7 variants in this feline HCM population indicates that the clinical utility of genetic testing for these variants may be isolated to the two cat breeds in which these variants have been identified.\" Akiyama et al. (2023) investigate “the ubiquitous occurrence of HCM-associated genetic variants [Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome protein 1: ALMS1 p.G3376R] among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of MYBPC3 p.A31P and ALMS1 p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. … . Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner.”`\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: HCM (no structured Phene_Gene link)\n- OMIA molecular-genetics note: HCM is genetically heterogeneous in the overall cat population - see Kaplan et al. (2025) and gene specific OMIA entries for details.\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- 1993. Heterogeneity of Hypertrophy in Feline Hypertrophic Heart  Disease. J Vet Intern Med — PubMed:PMID8331613 | DOI:10.1111/j.1939-1676.1993.tb03184.x — OMIA Phene_Article / Article\n- 1993. Comparison of morphologic findings in spontaneously occurring hypertrophic cardiomyopathy in humans, cats and dogs. Am J Cardiol — PubMed:PMID8213553 | DOI:10.1016/0002-9149(93)91112-u — OMIA Phene_Article / Article\n- 1995. Expression of a mutation causing hypertrophic cardiomyopathy  disrupts sarcomere assembly in adult feline cardiac myocytes. Circulation Research — PubMed:PMID7788887 — OMIA Phene_Article / Article\n- 1995. Echocardiographic assessment of spontaneously occurring feline hypertrophic cardiomyopathy - an animal model of human disease. Circulation — PubMed:PMID7586368 — OMIA Phene_Article / Article\n- 1996. Feline hypertrophic cardiomyopathy .1. [Review]. Feline Practice — OMIA Phene_Article / Article\n- 1997. Feline hypertrophic cardiomyopathy .2. [Review]. Feline Practice — OMIA Phene_Article / Article\n- 1997. Feline hypertrophic cardiomyopathy .3. [Review]. Feline Practice — OMIA Phene_Article / Article\n- 1997. Magnesium status and the effect of magnesium supplementation in feline hypertrophic cardiomyopathy. Canadian Journal of Veterinary Research - Revue Canadienne de Recherche Veterinaire — PubMed:PMID9243004 — OMIA Phene_Article / Article\n- 1997. Ultrasound diagnosis - left ventricular thrombus in a cat with hypertrophic cardiomyopathy. Veterinary Radiology & Ultrasound — PubMed:PMID9402715 — OMIA Phene_Article / Article\n- 1998. The use of enalapril in the treatment of feline hypertrophic cardiomyopathy. Journal of the American Animal Hospital Association — PubMed:PMID9527429 — OMIA Phene_Article / Article\n- 1998. Therapy of feline hypertrophic cardiomyopathy. Veterinary Clinics of North America - Small Animal Practice — OMIA Phene_Article / Article\n- 1998. Familial hypertrophic cardiomyopathy: man, mouse and cat. Qjm-Monthly Journal of the Association of Physicians — PubMed:PMID10024943 — OMIA Phene_Article / Article\n- (138 additional references in OMIA)\n","sources":["companion-species-health — Cat (Felis catus) — Feline familial HCM (hereditary; OMIA-verified species predisposition)"],"source":{"authority":"companion-species-health","title":"Cat (Felis catus) — Feline familial HCM (hereditary; OMIA-verified species predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/8331613/","retrieved":"","ref":"PMID 8331613","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":2046,"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."}