Title: RESEARCH COMMUNICATIONS OF THE 28th ECVIM-CA CONGRESS Document date: 2018_12_19
ID: r79h9yzz_172
Snippet: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in cats and humans. It is a heterogeneous genetic heart disease characterized by left ventricular hypertrophy in the absence of another disease that could explain the wall thickening. It is considered a familial disease with autosomal dominant transmission. In humans, more than 1500 causative mutations, mainly from 11 sarcomeric genes have been associated with HCM. In cats, only .....
Document: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in cats and humans. It is a heterogeneous genetic heart disease characterized by left ventricular hypertrophy in the absence of another disease that could explain the wall thickening. It is considered a familial disease with autosomal dominant transmission. In humans, more than 1500 causative mutations, mainly from 11 sarcomeric genes have been associated with HCM. In cats, only two causal mutations affecting the myosin protein binding C (MYBPC3) gene have been described (A31P in Maine Coons and R820W in Ragdolls). The aim of the study was: a) to identify possible causative mutations that could be associated with HCM in different breeds by next generation sequencing and b) to explore the relationship between genotype and phenotype.
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