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Prospective echocardiographic and tissue Doppler imaging screening of a population of Maine Coon cats tested for the A31P mutation in the myosin-binding protein C gene: a specific analysis of the heterozygous status
- Source :
- Journal of Veterinary Internal Medicine, Journal of Veterinary Internal Medicine, Wiley, 2009, 23 (1), pp.91-99. ⟨10.1111/j.1939-1676.2008.0218.x⟩, Journal of Veterinary Internal Medicine, 2009, 23 (1), pp.91-99. ⟨10.1111/j.1939-1676.2008.0218.x⟩
- Publication Year :
- 2009
-
Abstract
- Chantier qualité GA; International audience; Background: A mutation in the sarcomeric gene coding for the myosin-binding protein C gene has been identified in a colony of Maine Coon cats with hypertrophic cardiomyopathy (MyBPC3-A31P mutation). However, the close correlation between genotype and phenotype (left ventricular hypertrophy [LVH] and dysfunction) has never been assessed in a large population, particularly in heterozygous (Hetero) cats. Objectives: To investigate LV morphology and function with echocardiography and tissue Doppler imaging (TDI) in a population of Maine Coon cats tested for the MyBPC3-A31P mutation with focus on Hetero animals. Animals: Ninety-six Maine Coon cats. Methods: Prospective observational study. Cats were screened for the MyBPC3-A31P mutation and examined with both echocardiography and 2-dimensional color TDI. Results: Fifty-two out of 96 cats did not have the mutation (wild-type genotype, Homo WT), 38/96 and 6/96 were Hetero- and homozygous-mutated (Homo M) cats, respectively. Only 11% of Hetero cats (4/38) had LVH and 29% (10/34) of Hetero cats without LVH were >4 years old (4.1–11.5 years). LVH was also detected in 2 Homo WT cats (4%). A significantly decreased (P < .05) longitudinal E/A (ratio between early and late diastolic myocardial velocities) in the basal segment of the interventricular septum was observed in Hetero cats without LVH (n = 34) compared with Homo WT cats without LVH (n = 50), thus confirming that the Hetero status is associated with regional diastolic dysfunction (P < .05). Conclusions: The heterozygous status is not consistently associated with LVH and major myocardial dysfunction. Moreover, Homo WT cats can also develop LVH, suggesting that other genetic causes might be implicated.
- Subjects :
- Male
medicine.medical_specialty
Pathology
040301 veterinary sciences
genotype
[SDV]Life Sciences [q-bio]
Population
Cardiomyopathy
Diastole
Loss of Heterozygosity
030204 cardiovascular system & hematology
Left ventricular hypertrophy
Cat Diseases
Muscle hypertrophy
0403 veterinary science
03 medical and health sciences
0302 clinical medicine
Internal medicine
medicine
Animals
Genetic Predisposition to Disease
Interventricular septum
cardiovascular diseases
feline
education
education.field_of_study
CATS
[SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health
General Veterinary
business.industry
[SDV.BA]Life Sciences [q-bio]/Animal biology
Homozygote
Hypertrophic cardiomyopathy
04 agricultural and veterinary sciences
Cardiomyopathy, Hypertrophic
medicine.disease
medicine.anatomical_structure
Endocrinology
Gene Expression Regulation
Echocardiography
Mutation
Cats
Female
business
Carrier Proteins
cardiomyopathy
Subjects
Details
- ISSN :
- 08916640
- Volume :
- 23
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of veterinary internal medicine
- Accession number :
- edsair.doi.dedup.....42349116b69528b0ced7999f3e76bd0e