OMIA:002212-9685 : Cardiomyopathy, hypertrophic, MYH7-related in Felis catus (domestic cat)

In other species: pig , rabbit

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 192600 (trait) , 160760 (gene) , 613426 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Species-specific description: Hypertrophic cardiomyopathy (HCM) is a common heart disease in domestic cats. Other forms of inherited hypertrophic cardiomyopathy have been reported in cats - for examples see 'OMIA:000515-9685 Cardiomyopathy, hypertrophic (MYBPC3-related), 'OMIA:002316-9685 Cardiomyopathy, hypertrophic, ALMS1-related' and 'OMIA:002304-9685 Cardiomyopathy, hypertrophic, TNNT2-related'.

Molecular basis: Sequencing of comparative functional genes in an affected Domestic Shorthair cat enabled Schipper et al. (2019) to identify a likely causal variant, namely "MYH7 c.5647G>A (p.(Glu1883Lys))".

Clinical features: Due to variable expressivity, the clinical expression of HCM can be widely variable, ranging from asymptomatic, congestive heart failure (CHF), syncope, or sudden death with HCM identified post-mortem (Schipper et al., 2019; O'Donnell et al., 2021). Physical examination may reveal a murmur, gallop sound or arrhythmia (O'Donnell et al., 2021). Diagnosis is usually confirmed via echocardiography, with left ventricle hypertrophy being identified. Electrocardiogram may be normal or show increased R-wave voltage, left axis derivation, ventricular or supraventricular premature complexes or atrial fibrillation (O'Donnell et al., 2021). The single domestic shorthair cat with the MYH7 variant reported by Schipper et al. (2019) presented at approximately 6 years of age with “acute paraplegia, pain and severe dyspnoea with cyanosis. …Three weeks previously, he had developed a cough that did not respond to antibiotics. … Femoral pulses were absent and the hind legs were paralysed, cold and extremely painful when manipulated. Lung sounds were muffled ventrally and the dyspnoea made cardiac auscultation very difficult. The cat was hypothermic with a rectal temperature of 36 °C. Focused thoracic sonography showed multiple B-lines and focused cardiac sonography showed subjective thickening of the left ventricular free wall. The cat was diagnosed with thromboembolism of the distal aorta most likely due to HCM, with a suspicion of pulmonary oedema. … Because of the severity of the clinical signs and the poor prognosis, the cat was euthanized.” IT thanks DVM student Sheridan Gundry, who provided the basis of this contribution in May 2023.

Pathology: Pathologically the heart appears enlarged with increased weight due to concentric hypertrophy of the left ventricular walls (Schipper et al., 2019). Additionally, this increasing thickness results in narrowing of the ventricular lumen. Histopathological features are characterised by diffuse hypertrophy of the left myocardium, karyomegaly of cardiomyocytes, increased branching and myofiber disarray, and interstitial fibrosis (Schipper et al., 2019). Advanced stages of the disease may be associated with thromboembolism, congestion and oedema of the lungs or other signs consistent with CHF (Schipper et al., 2019; O'Donnell et al., 2021). IT thanks DVM student Sheridan Gundry, who provided the basis of this contribution in May 2023.

Prevalence: Schipper et al. (2019) reported that the c.5647G>A variant was absent from "125 [non-affected] Domestic Shorthairs and 25 cats each from the Ragdoll, Maine Coon and British Shorthair breeds". 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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MYH7 myosin, heavy chain 7, cardiac muscle, beta Felis catus B3 NC_058373.1 (73892875..73870474) MYH7 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1121 Domestic Shorthair Cardiomyopathy, hypertrophic, MYH7-related MYH7 missense Naturally occurring variant Felis_catus_9.0 B3 g.76166296C>T c.5647G>A p.(E1883K) XM_006932746.4; XP_006932808.1 rs3166775194 2019 31164718 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002212-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2021 Kittleson, M.D., Côté, E. :
The feline cardiomyopathies: 1. General concepts. J Feline Med Surg 23:1009-1027, 2021. Pubmed reference: 34693806. DOI: 10.1177/1098612X211021819.
O'Donnell, K., Adin, D., Atkins, C.E., DeFrancesco, T., Keene, B.W., Tou, S., Meurs, K.M. :
Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy. Anim Genet 52:542-4, 2021. Pubmed reference: 33970514. DOI: 10.1111/age.13074.
2020 Gil-Ortuño, C., Sebastián-Marcos, P., Sabater-Molina, M., Nicolas-Rocamora, E., Gimeno-Blanes, J.R., Fernández Del Palacio, M.J. :
Genetics of feline hypertrophic cardiomyopathy. Clin Genet 98:203-14, 2020. Pubmed reference: 32215921. DOI: 10.1111/cge.13743.
2019 Schipper, T., Van Poucke, M., Sonck, L., Smets, P., Ducatelle, R., Broeckx, B.J.G., Peelman, L.J. :
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. Eur J Hum Genet 27:1724-1730, 2019. Pubmed reference: 31164718. DOI: 10.1038/s41431-019-0431-4.

Edit History

  • Created by Frank Nicholas on 23 Sep 2019
  • Changed by Frank Nicholas on 23 Sep 2019
  • Changed by Imke Tammen2 on 17 Jun 2021
  • Changed by Imke Tammen2 on 04 May 2023