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
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...
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Published in | Journal of veterinary internal medicine Vol. 23; no. 1; pp. 91 - 99 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Malden, USA
Blackwell Publishing Inc
2009
Wiley |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | istex:1E517D5AFA91E2249BBC30D095DAEFFC901E3C46 ark:/67375/WNG-KPTGB2QP-V ArticleID:JVIM218 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0891-6640 1939-1676 |
DOI: | 10.1111/j.1939-1676.2008.0218.x |