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Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand
Joonbum Seo1,2, Yvonne Loh3, David J Connolly4
1School of Veterinary Science, Massey University, Palmerston North 4442, New Zealand.
Insights
Hypertrophic cardiomyopathy (HCM) is common in Sphynx cats in New Zealand, affecting 40% of those studied. A specific ALMS1 gene variant, though frequent, was not linked to this feline heart disease.
Area of Science:
- Veterinary Cardiology
- Feline Genetics
- Cardiovascular Disease Research
Background:
- Hypertrophic cardiomyopathy (HCM) is a significant concern in Sphynx cats.
- A previously identified variant in the Alström syndrome protein 1 (ALMS1) gene was proposed as a genetic cause.
- Understanding the prevalence and genetic associations of HCM in Sphynx cats is crucial for breed health.
Purpose of the Study:
- To determine the prevalence of HCM in a New Zealand population of Sphynx cats.
- To investigate the association between HCM and the ALMS1 gene variant in this cohort.
- To contribute data on feline hypertrophic cardiomyopathy for Sphynx breed health initiatives.
Main Methods:
- Prospective screening of 55 apparently healthy Sphynx cats by a veterinary cardiologist.
- Serial cardiac examinations for 42 cats after a median of 1.8 years.
- Genetic analysis to determine the frequency of the ALMS1 variant and its correlation with HCM diagnosis.
Main Results:
- HCM was diagnosed in 40% (20/55) of the Sphynx cats.
- The ALMS1 variant was highly prevalent (70.9%) but showed no statistically significant association with HCM.
- Three cats with HCM experienced fatal congestive heart failure, with necropsy revealing myocardial ischemia/infarction.
Conclusions:
- Sphynx cats in New Zealand exhibit a high prevalence of HCM, indicating a breed predisposition.
- The studied ALMS1 gene variant is not associated with HCM in this population.
- Further research is needed to identify the genetic factors underlying HCM in Sphynx cats.
Abstract:
Recently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1). The primary aims of this study were to describe the prevalence of HCM in Sphynx cats in New Zealand, and to assess the association between HCM and the ALMS1 variant in this population. In this prospective study, 55 apparently healthy Sphynx cats from registered Sphynx breeders and pet owners in New Zealand were screened by a cardiologist. A total of 42 of these cats had a repeat cardiac examination after median 1.8 years (range: 1.6-2.2). The frequency of the ALMS1 variant was 70.9% (11 homozygous and 28 heterozygous). At the median age of 5.8 years (range: 2.4-13.1), the prevalence of HCM was 40% (20 out of 55 cats). Three cats with HCM died during the study with congestive heart failure. All three cats had focal but extensive myocardial ischemia or infarction at necropsy. The ALMS1 variant was not associated with the HCM diagnosis. In summary, HCM was common in the studied cohort, suggesting Sphynx cats are predisposed to this disease. While the ALMS1 variant was also frequently detected, it was not associated with HCM in this population.
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