ArticleEuropean journal of human genetics : EJHG2019
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat.
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- First Description of Hypertrophic Cardiomyopathy Phenotype in Apparently Healthy Cats in Morocco: An Echocardiographic Prevalence Study.Animals : an open access journal from MDPI · 2026Article
- Unraveling the genetics of feline hypertrophic cardiomyopathy: a multiomics study of 138 cats.G3 (Bethesda, Md.) · 2025Article
- Integrated MicroRNA-mRNA Sequencing Analysis Identifies Regulators and Networks Involved in Feline Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2025Article
- Selected Pathway Analyses to Gain Mechanistic Insights into the Pathogenesis of Feline Hypertrophic Cardiomyopathy.International journal of molecular sciences · 2025Article
- Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.JACC. Basic to translational science · 2025Review
- Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing.Scientific reports · 2025Article
- Feline hypertrophic cardiomyopathy: Does the microRNA-mRNA regulatory network contribute to heart sarcomeric protein remodelling?International journal of experimental pathology · 2024Article
- Genetic Basis of Hypertrophic Cardiomyopathy in Cats.Current issues in molecular biology · 2024Review
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.Frontiers in veterinary science · 2024Article
- Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.Frontiers in veterinary science · 2024Article
- Serum C-terminal telopeptide of Type-I collagen (CTx) concentration and myocardial hyperechogenicity in cats with hypertrophic cardiomyopathy.The Canadian veterinary journal = La revue veterinaire canadienne · 2023Article
- MicroRNA profiling of the feline left heart identifies chamber-specific expression signatures in health and in advanced hypertrophic cardiomyopathy.Journal of molecular and cellular cardiology plus · 2023Article
- Feline myocardial transcriptome in health and in hypertrophic cardiomyopathy-A translational animal model for human disease.PloS one · 2023Article
- Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.PloS one · 2023Article
- Animal models and animal-free innovations for cardiovascular research: current status and routes to be explored. Consensus document of the ESC Working Group on Myocardial Function and the ESC Working Group on Cellular Biology of the Heart.Cardiovascular research · 2022Article
- Feline hypertrophic cardiomyopathy: reduced microvascular density and involvement of CD34+ interstitial cells.Veterinary pathology · 2022Article
- The Feline Cardiomyopathies: 2. Hypertrophic cardiomyopathy.Journal of feline medicine and surgery · 2021Article
- A Novel Homozygous Intronic Variant in TNNT2 Associates With Feline Cardiomyopathy.Frontiers in physiology · 2020Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
Hypertrophic cardiomyopathy (HCM) is the most common inherited human heart disease. The same disease has a high prevalence in cats, where it is also suspected to be inherited. More than 1500 variants in MYBPC3, MYH7 and other sarcomeric genes are associated with human HCM, while in cats, only two causative variants in MYBPC3 are currently known. Here, we describe an adult Domestic Shorthair cat with arterial thromboembolism and heart failure that was diagnosed with HCM on necropsy. Sequencing of the coding regions of MYBPC3 and MYH7 revealed 21 variants, of which the MYH7 c.5647G>A (p.(Glu1883Lys)) variant was further analysed, because its orthologous variant had already been reported in a human patient with HCM, but with limited causal evidence. This variant affects the highly conserved assembly competence domain, is predicted in silico to be damaging and was found only once in population databases. Recently, functional studies have confirmed its predicted damaging effect and a paralogous variant in MYH6 has been associated with cardiac disease in humans as well. This report of an orthologous variant in a cat with HCM and its absence in 200 additional cats provides further evidence for its disease-causing nature. As the first report of feline HCM caused by a variant in MYH7, this study also emphasises this gene as a candidate gene for future studies in cats and highlights the similarity between human and feline HCM.
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