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Genetics of feline hypertrophic cardiomyopathy.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-03-25 , DOI: 10.1111/cge.13743 Cristina Gil-Ortuño 1 , Patricia Sebastián-Marcos 2 , María Sabater-Molina 1, 3 , Elisa Nicolas-Rocamora 1 , Juan R Gimeno-Blanes 3, 4 , María J Fernández Del Palacio 2
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-03-25 , DOI: 10.1111/cge.13743 Cristina Gil-Ortuño 1 , Patricia Sebastián-Marcos 2 , María Sabater-Molina 1, 3 , Elisa Nicolas-Rocamora 1 , Juan R Gimeno-Blanes 3, 4 , María J Fernández Del Palacio 2
Affiliation
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Hypertrophic cardiomyopathy (HCM) is characterized by an abnormal increase in myocardial mass that affects cardiac structure and function. HCM is the most common inherited cardiovascular disease in humans (0.2%) and the most common cardiovascular disease in cats (14.7%). Feline HCM phenotype is very similar to the phenotype found in humans, but the time frame for the development of the disease is significantly shorter. Similar therapeutic agents are used in its treatment and it has the same complications, such as heart failure, thromboembolism and sudden cardiac death. In contrast to humans, in whom thousands of genetic variants have been identified, genetic studies in cats have been limited to fragment analysis of two sarcomeric genes identifying two variants in MYBPC3 and one in MYH7. Two of these variants have also been associated with human disease. The high prevalence of the reported variants in non‐affected cats hinders the assumption of their pathogenicity in heterozygotes. An in‐depth review of the literature about genetic studies on feline HCM in comparison with the same disease in humans is presented here. The close similarity in the phenotype and genotype between cats and humans makes the cat an excellent model for the pathophysiological study of the disease and future therapeutic agents.
中文翻译：
猫肥厚型心肌病的遗传学。
肥厚型心肌病（HCM）的特征是心肌质量异常增加，影响心脏结构和功能。HCM是人类中最常见的遗传性心血管疾病（0.2％），而在猫中是最常见的心血管疾病（14.7％）。猫的HCM表型与人类中发现的表型非常相似，但疾病发展的时间框架明显缩短。类似的治疗剂也用于治疗，并且具有相同的并发症，例如心力衰竭，血栓栓塞和心源性猝死。与已经鉴定出成千上万个遗传变异的人类相反，对猫的遗传研究仅限于两个肌节基因的片段分析，以鉴定MYBPC3中的两个变异和MYH7中的一个。这些变体中的两个也与人类疾病有关。在不受影响的猫中，报道的变种的高流行阻碍了其在杂合子中的致病性假设。本文介绍了与人类相同疾病相比，猫HCM遗传研究文献的深入综述。猫与人之间在表型和基因型上的相似性使其成为疾病和未来治疗剂的病理生理研究的极佳模型。
更新日期：2020-03-25
中文翻译：
猫肥厚型心肌病的遗传学。
肥厚型心肌病（HCM）的特征是心肌质量异常增加，影响心脏结构和功能。HCM是人类中最常见的遗传性心血管疾病（0.2％），而在猫中是最常见的心血管疾病（14.7％）。猫的HCM表型与人类中发现的表型非常相似，但疾病发展的时间框架明显缩短。类似的治疗剂也用于治疗，并且具有相同的并发症，例如心力衰竭，血栓栓塞和心源性猝死。与已经鉴定出成千上万个遗传变异的人类相反，对猫的遗传研究仅限于两个肌节基因的片段分析，以鉴定MYBPC3中的两个变异和MYH7中的一个。这些变体中的两个也与人类疾病有关。在不受影响的猫中，报道的变种的高流行阻碍了其在杂合子中的致病性假设。本文介绍了与人类相同疾病相比，猫HCM遗传研究文献的深入综述。猫与人之间在表型和基因型上的相似性使其成为疾病和未来治疗剂的病理生理研究的极佳模型。
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