OMIA:000515-9685 : Cardiomyopathy, hypertrophic in Felis catus (domestic cat)

In other species: woolly monkeys , Rhesus monkey , dog , pig , Arabian camel , taurine cattle

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615396 (trait) , 115197 (trait) , 600958 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Cross-species summary: Increase in volume of the muscle tissue of the heart, due to an increase in the size of muscle cells, primarily in the left ventricle and ventricular septum.

Species-specific name: Feline familial HCM

Species-specific symbol: HCM

Species-specific description: Feline hypertrophic cardiomyopathy (HCM), characterized by left ventricular hypertrophy, is the most common heart disease in domestic cats. Causative mutations in MYBPC3 have been identified in Maine Coon cats and Ragdolls. Affected cats can appear clinically normal, or they can present with signs of arterial thromboembolism or congestive heart failure. A test is available for Maine Coon and Ragdoll cats. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT 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'.

Inheritance: The mode of inheritance is autosomal dominant with 100% penetrance in Main Coon cats (Kittleson et al., 1999) and reported as possibly incomplete dominant in Ragdoll cats (Borgeat et al., 2014).

Molecular basis: HCM is genetically heterogeneous in the overall cat population. By sequencing a very likely comparative candidate gene (based on the homologous human disorder), Meurs et al. (2005) identified the causative mutation in Maine Coon cats as a G to C substitution in exon 3, codon 31 of MYBPC3. This changes a conserved amino acid (alanine to proline; A31P), which most likely changes protein conformation. The exact role of this myosin binding protein C, cardiac is still unknown, though it may bind myosin or actin, or interact with other cardiac proteins that form sarcomeres (Meurs et al., 2005). Affected Maine Coon cats were found to be either heterozygous or homozygous for the A31P mutation. Meurs et al. (2007) identified the causative mutation in Ragdoll cats as a C to T substitution in the same gene (MYBPC3), which changes the amino acid from arginine to tryptophan (R820W). As a result, the secondary structure of the myosin binding protein is changed, affecting sarcomere function. Wess et al. (2010) proposed that a third mutation A74T is causative in Maine Coons, but the explanations by Kittleson et al. (2010) and the extensive data of Longeri et al. (2013) have, in essence, disproved this claim.

Clinical features: 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, & 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 ... ."

Pathology: For cats with mild to moderate HCM, left ventricular (LV) wall thickening can be identified on echocardiography (Häggström, Fuentes & 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 & Côté, 2021). In severe cases, features will further include LA enlargement, enlarged pulmonary vein and pulmonary oedema (Kittleson & 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 & 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].

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 reported mutations (see Molecular Basis section) 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 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.”

Control: A test is available for MYBPC3 mutations in Maine Coon and Ragdoll cats. Breeding of affected cats is not recommended. The MYBPC3 p.A31P has been identified in other breeds Akiyama et al. (2023). In a proof-of-concept project aimed at validating the use of precision medicine, Ontiveros et al. (2019) showed that the likely causal variants of two affected Maine Coon cats could be identified by whole-genome sequencing of those cats, followed by sequence comparison with 79 control cats of various breeds. In the case of these two affected cats, this strategy identified the A31P variant first described by Meurs et al. (2005). Likely causal variants in other genes have been reported to cause HCM in other breeds - for examples see 'OMIA002212-9685 Cardiomyopathy, hypertrophic, MYH7-related', 'OMIA002316-9685 Cardiomyopathy, hypertrophic, ALMS1-related' and 'OMIA002304-9685 Cardiomyopathy, hypertrophic, TNNT2-related'.

Genetic testing: Tests for MYBPC3 variants are available for the Maine Coon and Ragdoll breeds. The MYBPC3 p.A31P has been identified in other breeds Akiyama et al. (2023). However, clinically affected cats may not have the MYBPC3 variants listed here, and variants in other genes have been identified and should be considered for testing.

Breeds: American Shorthair (Cat) (VBO_0100018), Maine Coon (Cat) (VBO_0100154), Munchkin (Cat) (VBO_0100169), Norwegian Forest Cat (Cat) (VBO_0100178), Persian (Cat) (VBO_0100188), Ragdoll (Cat) (VBO_0100196), Scottish Fold (Cat) (VBO_0100209), Sphynx (Cat) (VBO_0100230).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MYBPC3 myosin binding protein C, cardiac Felis catus - no genomic information (-..-) MYBPC3 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
902 Ragdoll (Cat) Cardiomyopathy, hypertrophic MYBPC3 missense Naturally occurring variant Felis_catus_9.0 D1 g.101329646G>A c.2453C>T p.(R818W) XM_019812397.1; XP_019667956.1; published as p.(R820W); coordinates in the table have been updated to a recent reference genome and / or transcript 2007 17521870 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
901 Maine Coon (Cat) Munchkin (Cat) Scottish Fold (Cat) Cardiomyopathy, hypertrophic MYBPC3 missense Naturally occurring variant Felis_catus_9.0 D1 g.101340772C>G c.91G>C p.(A31P) XM_019812397.1; XP_019667956.1; variant initially reported in Main Coon cats and in a later study (Akiyama et al., 2023) identified in other breeds. 2005 16236761 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:000515-9685: 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.

2023 Akiyama, N., Suzuki, R., Saito, T., Yuchi, Y., Ukawa, H., Matsumoto, Y. :
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan. PLoS One 18:e0283433, 2023. Pubmed reference: 37071642. DOI: 10.1371/journal.pone.0283433.
Anderson, E.L., Côté, É., Burton, S., Saleh, T. :
Serum C-terminal telopeptide of Type-I collagen (CTx) concentration and myocardial hyperechogenicity in cats with hypertrophic cardiomyopathy. Can Vet J 64:864-870, 2023. Pubmed reference: 37663017.
Cheng, W.C., Lawson, C., Liu, H.H., Wilkie, L., Dobromylskyj, M., Luis Fuentes, V., Dudhia, J., Connolly, D.J. :
Exploration of mediators associated with myocardial remodelling in feline hypertrophic cardiomyopathy. Animals (Basel) 13, 2023. Pubmed reference: 37443910. DOI: 10.3390/ani13132112.
Fries, R. :
Hypertrophic cardiomyopathy-Advances in imaging and diagnostic strategies. Vet Clin North Am Small Anim Pract , 2023. Pubmed reference: 37423845. DOI: 10.1016/j.cvsm.2023.05.010.
Janus, I., Noszczyk-Nowak, A., Bubak, J., Tursi, M., Vercelli, C., Nowak, M. :
Comparative cardiac macroscopic and microscopic study in cats with hyperthyroidism vs. cats with hypertrophic cardiomyopathy. Vet Q 43:1-11, 2023. Pubmed reference: 37427551. DOI: 10.1080/01652176.2023.2234436.
Joshua, J., Caswell, J., O'Sullivan, M.L., Wood, G., Fonfara, S. :
Feline myocardial transcriptome in health and in hypertrophic cardiomyopathy-A translational animal model for human disease. PLoS One 18:e0283244, 2023. Pubmed reference: 36928240. DOI: 10.1371/journal.pone.0283244.
Li, R.H.L., Fabella, A., Nguyen, N., Kaplan, J.L., Ontiveros, E., Stern, J.A. :
Circulating neutrophil extracellular traps in cats with hypertrophic cardiomyopathy and cardiogenic arterial thromboembolism. J Vet Intern Med , 2023. Pubmed reference: 36951591. DOI: 10.1111/jvim.16676.
Novo Matos, J., Payne, J.R. :
Predicting development of hypertrophic cardiomyopathy and disease outcomes in cats. Vet Clin North Am Small Anim Pract , 2023. Pubmed reference: 37500329. DOI: 10.1016/j.cvsm.2023.05.012.
Novo Matos, J., Payne, J.R., Mullins, J., Luis Fuentes, V. :
Isolated discrete upper septal thickening in a non-referral cat population of senior and young cats. J Vet Cardiol 50:39-50, 2023. Pubmed reference: 37924557. DOI: 10.1016/j.jvc.2023.09.006.
Rivas, V.N., Stern, J.A., Ueda, Y. :
The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract , 2023. Pubmed reference: 37423841. DOI: 10.1016/j.cvsm.2023.05.016.
Rivas, V.N., Kaplan, J.L., Kennedy, S.A., Fitzgerald, S., Crofton, A.E., Farrell, A., Grubb, L., Jauregui, C.E., Grigorean, G., Choi, E., Harris, S.P., Stern, J.A. :
Multi-omic, histopathologic, and clinicopathologic effects of once-weekly oral rapamycin in a naturally occurring feline model of hypertrophic cardiomyopathy: A pilot study. Animals (Basel) 13, 2023. Pubmed reference: 37893908. DOI: 10.3390/ani13203184.
Saito, T., Suzuki, R., Yuchi, Y., Fukuoka, H., Satomi, S., Teshima, T., Matsumoto, H. :
Comparative study of myocardial function in cases of feline hypertrophic cardiomyopathy with and without dynamic left-ventricular outflow-tract obstruction. Front Vet Sci 10:1191211, 2023. Pubmed reference: 37426078. DOI: 10.3389/fvets.2023.1191211.
Saponaro, V., Mey, C., Vonfeld, I., Chamagne, A., Alvarado, M.P., Cadoré, J.L., Chetboul, V., Desquilbet, L. :
Systolic third sound associated with systolic anterior motion of the mitral valve in cats with obstructive hypertrophic cardiomyopathy. J Vet Intern Med , 2023. Pubmed reference: 37448142. DOI: 10.1111/jvim.16806.
Sharpe, A.N., Oldach, M.S., Kaplan, J.L., Rivas, V., Kovacs, S.L., Hwee, D.T., Morgan, B.P., Malik, F.I., Harris, S.P., Stern, J.A. :
Pharmacokinetics of a single dose of Aficamten (CK-274) on cardiac contractility in a A31P MYBPC3 hypertrophic cardiomyopathy cat model. J Vet Pharmacol Ther 46:52-61, 2023. Pubmed reference: 36382714. DOI: 10.1111/jvp.13103.
Sharpe, A.N., Oldach, M.S., Rivas, V.N., Kaplan, J.L., Walker, A.L., Kovacs, S.L., Hwee, D.T., Cremin, P., Morgan, B.P., Malik, F.I., Harris, S.P., Stern, J.A. :
Effects of Aficamten on cardiac contractility in a feline translational model of hypertrophic cardiomyopathy. Sci Rep 13:32, 2023. Pubmed reference: 36593243. DOI: 10.1038/s41598-022-26630-z.
Sidler, M., Santarelli, G., Kovacevic, A., Novo Matos, J., Schreiber, N., Baron Toaldo, M. :
Ventricular pre-excitation in cats: 17 cases. J Vet Cardiol 47:70-82, 2023. Pubmed reference: 37267820. DOI: 10.1016/j.jvc.2023.04.005.
Stack, J.P., Fries, R.C., Kruckman, L., Kadotani, S., Wallace, G. :
Galectin-3 as a novel biomarker in cats with hypertrophic cardiomyopathy. J Vet Cardiol 48:54-62, 2023. Pubmed reference: 37480722. DOI: 10.1016/j.jvc.2023.06.003.
Stern, J.A., Rivas, V.N., Kaplan, J.L., Ueda, Y., Oldach, M.S., Ontiveros, E.S., Kooiker, K.B., van Dijk, S.J., Harris, S.P. :
Hypertrophic cardiomyopathy in purpose-bred cats with the A31P mutation in cardiac myosin binding protein-C. Sci Rep 13:10319, 2023. Pubmed reference: 37365215. DOI: 10.1038/s41598-023-36932-5.
2021 Kittleson, M.D., Côté, E. :
The feline cardiomyopathies: 2. Hypertrophic cardiomyopathy. J Feline Med Surg 23:1028-1051, 2021. Pubmed reference: 34693811. DOI: 10.1177/1098612X211020162.
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.
Meurs, K.M., Williams, B.G., DeProspero, D., Friedenberg, S.G., Malarkey, D.E., Ezzell, J.A., Keene, B.W., Adin, D.B., DeFrancesco, T.C., Tou, S. :
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis 16:108, 2021. Pubmed reference: 33639992. DOI: 10.1186/s13023-021-01740-5.
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.
Sukumolanan, P., Phanakrop, N., Thaisakun, S., Roytrakul, S., Petchdee, S. :
Analysis of the serum peptidomics profile for cats with sarcomeric gene mutation and hypertrophic cardiomyopathy. Front Vet Sci 8:771408, 2021. Pubmed reference: 34820440. DOI: 10.3389/fvets.2021.771408.
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.
McNamara, J.W., Schuckman, M., Becker, R.C., Sadayappan, S. :
A novel homozygous intronic variant in TNNT2 associates with feline cardiomyopathy. Front Physiol 11:608473, 2020. Pubmed reference: 33304277. DOI: 10.3389/fphys.2020.608473.
2019 Fox, P.R., Keene, B.W., Lamb, K., Schober, K.E., Chetboul, V., Luis Fuentes, V., Payne, J.R., Wess, G., Hogan, D.F., Abbott, J.A., Häggström, J., Culshaw, G., Fine-Ferreira, D., Cote, E., Trehiou-Sechi, E., Motsinger-Reif, A.A., Nakamura, R.K., Singh, M., Ware, W.A., Riesen, S.C., Borgarelli, M., Rush, J.E., Vollmar, A., Lesser, M.B., Van Israel, N., Lee, P.M., Bulmer, B., Santilli, R., Bossbaly, M.J., Quick, N., Bussadori, C., Bright, J., Estrada, A.H., Ohad, D.G., Del Palacio, M.J.F., Brayley, J.L., Schwartz, D.S., Gordon, S.G., Jung, S., Bove, C.M., Brambilla, P.G., Moïse, N.S., Stauthammer, C., Quintavalla, C., Manczur, F., Stepien, R.L., Mooney, C., Hung, Y.W., Lobetti, R., Tamborini, A., Oyama, M.A., Komolov, A., Fujii, Y., Pariaut, R., Uechi, M., Yukie Tachika Ohara, V. :
Long-term incidence and risk of noncardiovascular and all-cause mortality in apparently healthy cats and cats with preclinical hypertrophic cardiomyopathy. J Vet Intern Med 33:2572-2586, 2019. Pubmed reference: 31605422. DOI: 10.1111/jvim.15609.
Ontiveros, E.S., Ueda, Y., Harris, S.P., Stern, J.A. :
Precision medicine validation: identifying the MYBPC3 A31P variant with whole-genome sequencing in two Maine Coon cats with hypertrophic cardiomyopathy. J Feline Med Surg 21:1086-1093, 2019. Pubmed reference: 30558461. DOI: 10.1177/1098612X18816460.
2017 Pellegrino, A., Daniel, A.G., Pereira, G.G., Itikawa, P.H., Larsson, M.H. :
Assessment of regional left ventricular systolic function by strain imaging echocardiography in phenotypically normal and abnormal Maine coon cats tested for the A31P mutation in the MYBPC3 gene. Can J Vet Res 81:137-146, 2017. Pubmed reference: 28408782.
2016 Li, R.H., Stern, J.A., Ho, V., Tablin, F., Harris, S.P. :
Platelet activation and clopidogrel effects on ADP-induced platelet activation in cats with or without the A31P mutation in MYBPC3. J Vet Intern Med 30:1619-1629, 2016. Pubmed reference: 27615120. DOI: 10.1111/jvim.14568.
Schober, K.E., Savino, S.I., Yildiz, V. :
Right ventricular involvement in feline hypertrophic cardiomyopathy. J Vet Cardiol , 2016. Pubmed reference: 27667689. DOI: 10.1016/j.jvc.2016.08.001.
2015 Borgeat, K., Stern, J., Meurs, K.M., Fuentes, V.L., Connolly, D.J. :
The influence of clinical and genetic factors on left ventricular wall thickness in Ragdoll cats. J Vet Cardiol 17 Suppl 1:S258-67, 2015. Pubmed reference: 26776584. DOI: 10.1016/j.jvc.2015.06.005.
Christiansen, L.B., Prats, C., Hyttel, P., Koch, J. :
Ultrastructural myocardial changes in seven cats with spontaneous hypertrophic cardiomyopathy. J Vet Cardiol 17 Suppl 1:S220-32, 2015. Pubmed reference: 26776581. DOI: 10.1016/j.jvc.2015.10.003.
Granström, S., Godiksen, M.T., Christiansen, M., Pipper, C.B., Martinussen, T., Møgelvang, R., Søgaard, P., Willesen, J.L., Koch, J. :
Genotype-phenotype correlation between the cardiac myosin binding protein C mutation A31P and hypertrophic cardiomyopathy in a cohort of Maine Coon cats: a longitudinal study. J Vet Cardiol 17 Suppl 1:S268-81, 2015. Pubmed reference: 26776585. DOI: 10.1016/j.jvc.2015.10.005.
Häggström, J., Luis Fuentes, V., Wess, G. :
Screening for hypertrophic cardiomyopathy in cats. J Vet Cardiol 17 Suppl 1:S134-49, 2015. Pubmed reference: 26776573. DOI: 10.1016/j.jvc.2015.07.003.
Jackson, B.L., Adin, D.B., Lehmkuhl, L.B. :
Effect of atenolol on heart rate, arrhythmias, blood pressure, and dynamic left ventricular outflow tract obstruction in cats with subclinical hypertrophic cardiomyopathy. J Vet Cardiol 17 Suppl 1:S296-305, 2015. Pubmed reference: 26776587. DOI: 10.1016/j.jvc.2015.03.002.
Kittleson, M.D., Meurs, K.M., Harris, S.P. :
The genetic basis of hypertrophic cardiomyopathy in cats and humans. J Vet Cardiol 17 Suppl 1:S53-73, 2015. Pubmed reference: 26776594. DOI: 10.1016/j.jvc.2015.03.001.
Maron, B.J., Fox, P.R. :
Hypertrophic cardiomyopathy in man and cats. J Vet Cardiol 17 Suppl 1:S6-9, 2015. Pubmed reference: 26776595. DOI: 10.1016/j.jvc.2015.03.007.
Payne, J.R., Borgeat, K., Brodbelt, D.C., Connolly, D.J., Luis Fuentes, V. :
Risk factors associated with sudden death vs. congestive heart failure or arterial thromboembolism in cats with hypertrophic cardiomyopathy. J Vet Cardiol 17 Suppl 1:S318-28, 2015. Pubmed reference: 26776589. DOI: 10.1016/j.jvc.2015.09.008.
Payne, J.R., Brodbelt, D.C., Luis Fuentes, V. :
Cardiomyopathy prevalence in 780 apparently healthy cats in rehoming centres (the CatScan study). J Vet Cardiol 17 Suppl 1:S244-57, 2015. Pubmed reference: 26776583. DOI: 10.1016/j.jvc.2015.03.008.
Stanzani, G., Cowlam, R., English, K., Connolly, D.J. :
Evaluation of red blood cell distribution width in cats with hypertrophic cardiomyopathy. J Vet Cardiol 17 Suppl 1:S233-43, 2015. Pubmed reference: 26776582. DOI: 10.1016/j.jvc.2015.09.001.
2014 Borgeat, K., Casamian-Sorrosal, D., Helps, C., Luis Fuentes, V., Connolly, D.J. :
Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats. J Vet Cardiol 16:73-80, 2014. Pubmed reference: 24906243. DOI: 10.1016/j.jvc.2014.03.005.
Casamian-Sorrosal, D., Chong, S.K., Fonfara, S., Helps, C. :
Prevalence and demographics of the MYBPC3-mutations in ragdolls and Maine coons in the British Isles. J Small Anim Pract 55:269-73, 2014. Pubmed reference: 24602043. DOI: 10.1111/jsap.12201.
2013 Longeri, M., Ferrari, P., Knafelz, P., Mezzelani, A., Marabotti, A., Milanesi, L., Pertica, G., Polli, M., Brambilla, P.G., Kittleson, M., Lyons, L.A., Porciello, F. :
Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. J Vet Intern Med 27:275-85, 2013. Pubmed reference: 23323744. DOI: 10.1111/jvim.12031.
2012 Chetboul, V., Petit, A., Gouni, V., Trehiou-Sechi, E., Misbach, C., Balouka, D., Carlos Sampedrano, C., Pouchelon, J.L., Tissier, R., Abitbol, M. :
Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: reference ranges, heart disease prevalence and genetic aspects. J Vet Cardiol 14:497-509, 2012. Pubmed reference: 23131204. DOI: 10.1016/j.jvc.2012.08.001.
Kershaw, O., Heblinski, N., Lotz, F., Dirsch, O., Gruber, A.D. :
Diagnostic value of morphometry in feline hypertrophic cardiomyopathy. J Comp Pathol 147:73-83, 2012. Pubmed reference: 22297077. DOI: 10.1016/j.jcpa.2011.11.196.
Trehiou-Sechi, E., Tissier, R., Gouni, V., Misbach, C., Petit, A., Balouka, D., Carlos Sampedrano, C., Castaignet, M., Pouchelon, J.-L., Chetboul, V. :
Comparative echocardiographic and clinical features of hypertrophic cardiomyopathy in 5 breeds of cats: A retrospective analysis of 344 cases (2001–2011). J Vet Intern Med 26:532-541, 2012. DOI:
2011 Godiksen, M.T., Granstrøm, S., Koch, J., Christiansen, M. :
Hypertrophic cardiomyopathy in young Maine Coon cats caused by the p.A31P cMyBP-C mutation--the clinical significance of having the mutation. Acta Vet Scand 53:7, 2011. Pubmed reference: 21306647. DOI: 10.1186/1751-0147-53-7.
Swanson, W.F., Bateman, H.L., Newsom, J., Conforti, V.A., Herrick, J.R., Lambo, C.A., Haskins, M.E., Lyons, L.A., Kittleson, M.D., Harris, S.P., Fyfe, J.C., Magarey, G.M. :
Propagation of multiple cat hereditary disease models following assisted reproduction with frozen semen and embryos Reproduction, Fertility and Development 24:139-140 (Abstract 55), 2011.
2010 Abbott, JA. :
Feline hypertrophic cardiomyopathy: an update. Vet Clin North Am Small Anim Pract 40:685-700, 2010. Pubmed reference: 20610019. DOI: 10.1016/j.cvsm.2010.04.004.
Glaus, T., Wess, G. :
[Left ventricular hypertrophy in the cat - "when hypertrophic cardiomyopathy is not hypertrophic cardiomyopathy"]. Schweiz Arch Tierheilkd 152:325-30, 2010. Pubmed reference: 20582898. DOI: 10.1024/0036-7281/a000075.
Kittleson, MD., Meurs, K., Munro, M. :
Re: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med 24:1242-3; author reply 1244, 2010. Pubmed reference: 21054533. DOI: 10.1111/j.1939-1676.2010.0614.x.
Mary, J., Chetboul, V., Sampedrano, CC., Abitbol, M., Gouni, V., Trehiou-Sechi, E., Tissier, R., Queney, G., Pouchelon, JL., Thomas, A. :
Prevalence of the MYBPC3-A31P mutation in a large European feline population and association with hypertrophic cardiomyopathy in the Maine Coon breed. J Vet Cardiol 12:155-61, 2010. Pubmed reference: 21051304. DOI: 10.1016/j.jvc.2010.06.004.
Payne, J., Luis Fuentes, V., Boswood, A., Connolly, D., Koffas, H., Brodbelt, D. :
Population characteristics and survival in 127 referred cats with hypertrophic cardiomyopathy (1997 to 2005). J Small Anim Pract 51:540-7, 2010. Pubmed reference: 21029098. DOI: 10.1111/j.1748-5827.2010.00989.x.
Ripoll Vera, T., Monserrat Iglesias, L., Hermida Prieto, M., Ortiz, M., Rodriguez Garcia, I., Govea Callizo, N., Gómez Navarro, C., Rosell Andreo, J., Gámez Martínez, J.M., Pons Lladó, G., Cremer Luengos, D., Torres Marqués, J. :
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. Int J Cardiol 145:405-7, 2010. Pubmed reference: 20542340. DOI: 10.1016/j.ijcard.2010.04.032.
Singh, MK., Cocchiaro, MF., Kittleson, MD. :
NT-proBNP measurement fails to reliably identify subclinical hypertrophic cardiomyopathy in Maine Coon cats. J Feline Med Surg 12:942-7, 2010. Pubmed reference: 21036088. DOI: 10.1016/j.jfms.2010.08.004.
Wess, G., Schinner, C., Weber, K., Küchenhoff, H., Hartmann, K. :
Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med 24:527-32, 2010. Pubmed reference: 20412438. DOI: 10.1111/j.1939-1676.2010.0514.x.
2009 Brizard, D., Amberger, C., Hartnack, S., Doherr, M., Lombard, C. :
Phenotypes and echocardiographic characteristics of a European population of domestic shorthair cats with idiopathic hypertrophic cardiomyopathy. Schweiz Arch Tierheilkd 151:529-38, 2009. Pubmed reference: 19885798. DOI: 10.1024/0036-7281.151.11.529.
Carlos Sampedrano, C., Chetboul, V., Mary, J., Tissier, R., Abitbol, M., Serres, F., Gouni, V., Thomas, A., Pouchelon, JL. :
Prospective echocardiographic and tissue Doppler imaging screening of a population of Maine Coon cats tested for the A31P mutation in the myosin-binding protein C gene: a specific analysis of the heterozygous status. J Vet Intern Med 23:91-9, 2009. Pubmed reference: 19175727. DOI: 10.1111/j.1939-1676.2008.0218.x.
Hsu, A., Kittleson, MD., Paling, A. :
Investigation into the use of plasma NT-proBNP concentration to screen for feline hypertrophic cardiomyopathy. J Vet Cardiol 11 Suppl 1:S63-70, 2009. Pubmed reference: 19395334. DOI: 10.1016/j.jvc.2009.02.005.
Meurs, KM., Norgard, MM., Kuan, M., Haggstrom, J., Kittleson, M. :
Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy. J Vet Intern Med 23:840-3, 2009. Pubmed reference: 19566849. DOI: 10.1111/j.1939-1676.2009.0341.x.
2008 Fries, R., Heaney, AM., Meurs, KM. :
Prevalence of the myosin-binding protein C mutation in Maine Coon cats. J Vet Intern Med 22:893-6, 2008. Pubmed reference: 18498321. DOI: 10.1111/j.1939-1676.2008.0113.x.
Gouni, V., Chetboul, V., Pouchelon, JL., Carlos Sampedrano, C., Maurey, C., Lefebvre, HP. :
Azotemia in cats with feline hypertrophic cardiomyopathy: prevalence and relationships with echocardiographic variables. J Vet Cardiol 10:117-23, 2008. Pubmed reference: 19027388. DOI: 10.1016/j.jvc.2008.09.002.
Jandrey, KE., Norris, JW., Macdonald, KA., Kittleson, MD., Tablin, F. :
Platelet function in clinically healthy cats and cats with hypertrophic cardiomyopathy: analysis using the Platelet Function Analyzer-100. Vet Clin Pathol 37:385-8, 2008. Pubmed reference: 19055572. DOI: 10.1111/j.1939-165X.2008.00062.x.
2007 Macdonald, KA., Kittleson, MD., Kass, PH., Meurs, KM. :
Tissue Doppler imaging in Maine Coon cats with a mutation of myosin binding protein C with or without hypertrophy. J Vet Intern Med 21:232-7, 2007. Pubmed reference: 17427382.
Meurs, KM., Norgard, MM., Ederer, MM., Hendrix, KP., Kittleson, MD. :
A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics 90:261-4, 2007. Pubmed reference: 17521870. DOI: 10.1016/j.ygeno.2007.04.007.
Riesen, SC., Kovacevic, A., Lombard, CW., Amberger, C. :
Echocardiographic screening of purebred cats: an overview from 2002 to 2005. Schweiz Arch Tierheilkd 149:73-6, 2007. Pubmed reference: 17343133.
2006 Kaneshige, T., Machida, N., Itoh, H., Yamane, Y. :
The anatomical basis of complete atrioventricular block in cats with hypertrophic cardiomyopathy. J Comp Pathol 135:25-31, 2006. Pubmed reference: 16844442. DOI: 10.1016/j.jcpa.2006.03.001.
Koffas, H., Dukes-McEwan, J., Corcoran, BM., Moran, CM., French, A., Sboros, V., Simpson, K., McDicken, WN. :
Pulsed tissue Doppler imaging in normal cats and cats with hypertrophic cardiomyopathy. J Vet Intern Med 20:65-77, 2006. Pubmed reference: 16496925.
Macdonald, KA., Kittleson, MD., Larson, RF., Kass, P., Klose, T., Wisner, ER. :
The effect of ramipril on left ventricular mass, myocardial fibrosis, diastolic function, and plasma neurohormones in Maine Coon cats with familial hypertrophic cardiomyopathy without heart failure. J Vet Intern Med 20:1093-105, 2006. Pubmed reference: 17063701.
2005 Cesta, MF., Baty, CJ., Keene, BW., Smoak, IW., Malarkey, DE. :
Pathology of end-stage remodeling in a family of cats with hypertrophic cardiomyopathy. Vet Pathol 42:458-67, 2005. Pubmed reference: 16006605. DOI: 10.1354/vp.42-4-458.
Macdonald, KA., Wisner, ER., Larson, RF., Klose, T., Kass, PH., Kittleson, MD. :
Comparison of myocardial contrast enhancement via cardiac magnetic resonance imaging in healthy cats and cats with hypertrophic cardiomyopathy. Am J Vet Res 66:1891-4, 2005. Pubmed reference: 16334945.
Meurs, KM., Sanchez, X., David, RM., Bowles, NE., Towbin, JA., Reiser, PJ., Kittleson, JA., Munro, MJ., Dryburgh, K., Macdonald, KA., Kittleson, MD. :
A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet 14:3587-93, 2005. Pubmed reference: 16236761. DOI: 10.1093/hmg/ddi386.
2004 Baty, CJ. :
Feline hypertrophic cardiomyopathy: an update. Vet Clin North Am Small Anim Pract 34:1227-34, 2004. Pubmed reference: 15325479. DOI: 10.1016/j.cvsm.2004.06.005.
2003 Connolly, D.J., Cannata, J., Boswood, A., Archer, J., Groves, E.A., Neiger, R. :
Cardiac troponin I in cats with hypertrophic cardiomyopathy Journal of Feline Medicine & Surgery 5:209-16, 2003.
Ferasin, L., Sturgess, CP., Cannon, MJ., Caney, SM., Gruffydd-Jones, TJ., Wotton, PR. :
Feline idiopathic cardiomyopathy: a retrospective study of 106 cats (1994-2001). J Feline Med Surg 5:151-9, 2003. Pubmed reference: 12765625.
Haggstrom, J. :
Hypertrophic cardiomyopathy in cats--it used to be so simple! J Feline Med Surg 5:139-41, 2003. Pubmed reference: 12670441.
2002 Herndon, W.E., Kittleson, M.D., Sanderson, K., Drobatz, K.J., Clifford, C.A., Gelzer, A., Summerfield, N.J., Linde, A., Sleeper, M.M. :
Cardiac troponin I in feline hypertrophic cardiomyopathy Journal of Veterinary Internal Medicine 16:558-564, 2002. Pubmed reference: 12322706.
Nakagawa, K., Takemura, N., Machida, N., Kawamura, M., Amasaki, H., Hirose, H. :
Hypertrophic cardiomyopathy in a mixed breed cat family. J Vet Med Sci 64:619-21, 2002. Pubmed reference: 12185318.
Rodriguez, D.B., Harpster, N. :
Feline hypertrophic cardiomyopathy: Etiology, pathophysiology, and clinical features Compendium on Continuing Education for the Practicing Veterinarian 24:364-+, 2002.
Rush, J.E., Freeman, L.M., Fenollosa, N.K., Brown, D.J. :
Population and survival characteristics of cats with hypertrophic cardiomyopathy: 260 cases (1990-1999) Journal of the American Veterinary Medical Association 220:202-207, 2002. Pubmed reference: 12126131.
2001 Baty, C.J., Malarkey, D.E., Atkins, C.E., DeFrancesco, T.C., Sidley, J., Keene, B.W. :
Natural history of hypertrophic cardiomyopathy and aortic thromboembolism in a family of domestic shorthair cats Journal of Veterinary Internal Medicine 15:595-599, 2001. Pubmed reference: 11817067.
Taugner, F.M. :
Stimulation of the renin-angiotensin system in cats with hypertrophic cardiomyopathy Journal of Comparative Pathology 125:122-129, 2001. Pubmed reference: 11578127. DOI: 10.1053/jcpa.2001.0486.
2000 Hayman, R., Une, Y., Nomura, Y. :
Desmin as a possible immunohistochemical marker for feline hypertrophic cardiomyopathy Journal of Veterinary Medical Science 62:343-346, 2000. Pubmed reference: 10770612.
Meurs, KM., Fox, PR., Magnon, AL., Liu, S., Towbin, JA. :
Molecular screening by polymerase chain reaction detects panleukopenia virus DNA in formalin-fixed hearts from cats with idiopathic cardiomyopathy and myocarditis. Cardiovasc Pathol 9:119-26, 2000. Pubmed reference: 10867362.
1999 Amberger, C.N., Glardon, O., Glaus, T., Hörauf, A., King, J.N., Schmidli, H., Schröter, L., Lombard, C.W. :
Effects of benazepril in the treatment of feline hypertrophic cardiomyopathy Results of a prospective, open-label, multicenter clinical trial. J Vet Cardiol 1:19-26, 1999. Pubmed reference: 19081318. DOI: 10.1016/S1760-2734(06)70026-1.
Kittleson, M.D., Meurs, K.M., Munro, M.J., Kittleson, J.A., Liu, S.K., Pion, P.D., Towbin, J.A. :
Familial hypertrophic cardiomyopathy in Maine Coon cats - An animal model of human disease. Circulation 99:3172-3180, 1999. Pubmed reference: 10377082.
Kraus, M.S., Calvert, C.A., Jacobs, G.J. :
Hypertrophic cardiomyopathy in a litter of five mixed-breed cats Journal of the American Animal Hospital Association 35:293-296, 1999. Pubmed reference: 10416772.
1998 Baty, C., Watkins, H. :
Familial hypertrophic cardiomyopathy: man, mouse and cat Qjm-Monthly Journal of the Association of Physicians 91:791-793, 1998. Pubmed reference: 10024943.
Rush, J.E., Freeman, L.M., Brown, D.J., Smith, F.W.K. :
The use of enalapril in the treatment of feline hypertrophic cardiomyopathy Journal of the American Animal Hospital Association 34:38-41, 1998. Pubmed reference: 9527429.
Rush, J.E. :
Therapy of feline hypertrophic cardiomyopathy Veterinary Clinics of North America - Small Animal Practice 28:1459-+, 1998.
1997 Behrend, E.N., Grauer, G.F., Greco, D.S. :
Feline hypertrophic cardiomyopathy .2. [Review] Feline Practice 25:9-12, 1997.
Behrend, E.N., Grauer, G.F., Greco, D.S. :
Feline hypertrophic cardiomyopathy .3. [Review] Feline Practice 25:22-25, 1997.
Freeman, L.M., Brown, D.J., Smith, F.W.K., Rush, J.E. :
Magnesium status and the effect of magnesium supplementation in feline hypertrophic cardiomyopathy Canadian Journal of Veterinary Research - Revue Canadienne de Recherche Veterinaire 61:227-231, 1997. Pubmed reference: 9243004.
Venco, L. :
Ultrasound diagnosis - left ventricular thrombus in a cat with hypertrophic cardiomyopathy Veterinary Radiology & Ultrasound 38:467-468, 1997. Pubmed reference: 9402715.
1996 Behrend, E.N., Grauer, G.F., Greco, D.S. :
Feline hypertrophic cardiomyopathy .1. [Review] Feline Practice 24:34-37, 1996.
1995 Fox, P.R., Liu, S.K., Maron, B.J. :
Echocardiographic assessment of spontaneously occurring feline hypertrophic cardiomyopathy - an animal model of human disease Circulation 92:2645-2651, 1995. Pubmed reference: 7586368.
Marian, A.J., Yu, Q.T., Mann, D.L., Graham, F.L., Roberts, R. :
Expression of a mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes Circulation Research 77:98-106, 1995. Pubmed reference: 7788887.
1993 Liu, S.K., Roberts, W.C., Maron, B.J. :
Comparison of morphologic findings in spontaneously occurring hypertrophic cardiomyopathy in humans, cats and dogs. American Journal of Cardiology 72:944-951, 1993. Pubmed reference: 8213553.
1992 Atkins, CE., Gallo, AM., Kurzman, ID., Cowen, P. :
Risk factors, clinical signs, and survival in cats with a clinical diagnosis of idiopathic hypertrophic cardiomyopathy: 74 cases (1985-1989). J Am Vet Med Assoc 201:613-8, 1992. Pubmed reference: 1517140.
1989 French, W. :
ECG of the month. Feline hypertrophic cardiomyopathy. J Am Vet Med Assoc 194:1563, 1989. Pubmed reference: 2753774.
1981 Liu, SK., Maron, BJ., Tilley, LP. :
Feline hypertrophic cardiomyopathy: gross anatomic and quantitative histologic features. Am J Pathol 102:388-95, 1981. Pubmed reference: 7193978.
1977 Tilley, LP., Liu, SK., Gilbertson, SR., Wagner, BM., Lord, PF. :
Primary myocardial disease in the cat. A model for human cardiomyopathy. Am J Pathol 86:493-522, 1977. Pubmed reference: 842611.
1975 Liu, SK., Tilley, LP., Lord, PF. :
Feline cardiomyopathy. Recent Adv Stud Cardiac Struct Metab 10:627-40, 1975. Pubmed reference: 128793.

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