Grzeczka Arkadiusz, Graczyk Szymon, Pasławski Robert, Pasławska Urszula
Department for Basic and Preclinical Sciences, Institute of Veterinary Medicine, Faculty of Biological and Veterinary Sciences, Nicolaus Copernicus University in Torun, 87-100 Torun, Poland.
Department of Veterinary Surgery, Institute of Veterinary Medicine, Faculty of Biological and Veterinary Sciences, Nicolaus Copernicus University in Torun, 87-100 Torun, Poland.
Curr Issues Mol Biol. 2024 Aug 12;46(8):8752-8766. doi: 10.3390/cimb46080517.
Hypertrophic cardiomyopathy (HCM) is a common cardiovascular condition in cats, affecting yth males and females of all ages. Some breeds, such as Ragdolls and Maine Coons, can develop HCM at a young age. The disease has a wide range of progression and severity, characterized by various pathological changes in the heart, including arteritis, fibrous tissue deposition, and myocardial cell hypertrophy. Left ventricular hypertrophy, which can restrict blood flow, is a common feature of HCM. The disease may persist into old age and eventually lead to heart failure and increased diastolic pressure. The basis of HCM in cats is thought to be genetic, although the exact mechanisms are not fully understood. Mutations in sarcomeric proteins, in particular myosin-binding protein C (MYBPC3), have been identified in cats with HCM. Two specific mutations, MYBPC3 [R818W] and MYBPC3 [A31P], have been classified as 'pathogenic'. Other variants in genes such as MYBPC3, TNNT2, ALMS1, and MYH7 are also associated with HCM. However, there are cases where cats without known genetic mutations still develop HCM, suggesting the presence of unknown genetic factors contributing to the disease. This work aims to summarise the new knowledge of HCM in cats and the alterations in cardiac tissue as a result of genetic variants.
肥厚型心肌病（HCM）是猫常见的心血管疾病，影响所有年龄段的雄性和雌性猫。一些品种，如布偶猫和缅因猫，在年轻时就可能患上HCM。该病的进展和严重程度范围广泛，其特征是心脏出现各种病理变化，包括动脉炎、纤维组织沉积和心肌细胞肥大。左心室肥大可限制血液流动，是HCM的常见特征。该病可能持续到老年，最终导致心力衰竭和舒张压升高。猫HCM的病因被认为是遗传因素，尽管确切机制尚未完全了解。在患有HCM的猫中已发现肌节蛋白的突变，特别是肌球蛋白结合蛋白C（MYBPC3）。两种特定突变，MYBPC3 [R818W]和MYBPC3 [A31P]，已被归类为“致病性”。MYBPC3、TNNT2、ALMS1和MYH7等基因中的其他变异也与HCM有关。然而，有些没有已知基因突变的猫仍然会患上HCM，这表明存在导致该病的未知遗传因素。这项工作旨在总结猫HCM的新知识以及遗传变异导致的心脏组织变化。
