Hypertrophic cardiomyopathy (HCM) is the most common cause of heart disease in the domestic cat with a genetic predisposition in a few breeds. In the Maine Coon and Ragdoll breeds, two variants associated with the HCM phenotype have been identified in the cardiac myosin binding protein C gene (MYBPC3; p.Ala31Pro and p.Arg820Trp respectively), and a single variant has been identified in the myosin heavy chain gene (MYH7; p.Glu1883Lys) in one domestic cat with HCM. It is not known if these variants influence the development of HCM in other cohorts of the feline population. The objective of this study was to evaluate 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. Further studies to identify the causative variants for the feline HCM population are warranted.

中文翻译：

---

在患有肥厚型心肌病的不同猫群中缺乏已知的猫科动物 MYH7 和 MYBPC3 变体

肥厚型心肌病 (HCM) 是家猫心脏病的最常见原因，少数品种具有遗传倾向。在 Maine Coon 和 Ragdoll 品种中，已在心脏肌球蛋白结合蛋白 C 基因（分别为MYBPC3； p.Ala31Pro 和 p.Arg820Trp）中鉴定出两种与 HCM 表型相关的变异，并在重肌球蛋白中鉴定出一种变异。一只患有 HCM 的家猫的链基因 ( MYH7 ; p.Glu1883Lys)。目前尚不清楚这些变异是否会影响其他猫科动物群体中 HCM 的发展。本研究的目的是评估已知MYBPC3和MYH7的存在患有 HCM 的猫群体中的变异。从通过北卡罗来纳州立大学兽医学院诊断出患有 HCM 的非布偶猫和非缅因浣熊家猫收集的样本中分离出 DNA，并对三种变体进行基因分型。从家养短毛猫、家养长毛猫和纯种猫身上评估了一百零三个患有 HCM 的猫的 DNA 样本。所有样品都是MYBPC3和MYH7变体的重量。虽然这项研究受限于它包含来自一家三级医院的猫，但缺乏这些MYBPC3和MYH7该猫 HCM 种群中的变异表明，这些变异的基因检测的临床效用可能与已鉴定出这些变异的两个猫品种有关。需要进一步研究以确定猫 HCM 种群的致病变异。