Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease in humans and cats, causing sudden death, heart failure or cardioembolic complications. In both species HCM is heritable and causative mutations have been identified in the Maine coon and Ragdoll cat breeds. Further genetic studies could facilitate disease control in affected breeds and improve our understanding of HCM in humans. We will integrate clinical cardiology, genetics, bioinformatics and systems biology approaches to investigate the genetic architecture of HCM in cats in comparison with humans. Our findings will also assess the utility of cats as a study model for human HCM.
- Payne JR, Brodbelt DC, Luis Fuentes V: Cardiomyopathy prevalence in 780 apparently healthy cats in rehoming centres (the CatScan study). Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology 2015, 17 Suppl 1:S244-257.
- Andrew E Messer, Jasmine Chan, Alex Daley, O’Neal Copeland, Steven Marston, David J Connolly. Investigations into the sarcomeric protein and Ca2+-regulation abnormalities underlying hypertrophic cardiomyopathy in cats (felix catus). Accepted Frontiers in Physiology (2017)
- Lopes LR, Syrris P, Guttmann OP, O’Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM: Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 Feb;101(4):294-301. doi: 10.1136/heartjnl-2014-306387. Epub 2014 Oct 28.
- Al-Numair NS, Lopes L, Syrris P, Monserrat L, Elliott P, Martin AC: The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants. Bioinformatics. 2016 Oct 1;32(19):2947-55. doi: 10.1093/bioinformatics/btw362. Epub 2016 Jun 17.
- Kittleson MD, Meurs KM, Harris SP: The genetic basis of hypertrophic cardiomyopathy in cats and humans. Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology 2015, 17 Suppl 1:S53-73.