Prevalence and Clinical Relevance of Alström Syndrome Protein 1 Gene Variant and Feline Hypertrophic Cardiomyopathy in Sphynx Cats in Thailand

Feline hypertrophic cardiomyopathy (HCM) is the most common cardiac disease in cats, causing morbidity and mortality. Recently, a variant in the Alström syndrome protein 1 (ALMS1) gene has been reported to be associated with HCM in Sphynx cats. However, information is limited on the prevalence and clinical significance of the ALMS1 p.G2462R variant in Sphynx cats in Thailand. Therefore, the objectives of this study were to determine the prevalence of the ALMS1 p.G2462R variant in Sphynx cats in Thailand and to assess its association with the clinical and echocardiographic features of feline HCM. A sample of 47 Sphynx cats was used based on specific inclusion and exclusion criteria. Clinical data, including sex, age, and body weight, together with echocardiographic assessments of the HCM phenotype and blood samples for ALMS1 genotyping, were collected from each enrolled cat. The prevalence of the ALMS1 p.G2462R variant was 44.68%, comprising 6.38% homozygous and 38.30% heterozygous mutations. Genotype frequencies were consistent with the Hardy–Weinberg equilibrium. However, no significant association was identified between the ALMS1 p.G2462R variant and echocardiographic parameters related to the HCM phenotype. In conclusion, within this population, the ALMS1 p.G2462R variant did not appear to play a primary role in the pathogenesis of HCM in Sphynx cats.