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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 |
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| Authors: | C Carlos Sampedrano V Chetboul J Mary R Tissier M Abitbol F Serres V Gouni A Thomas J-L Pouchelon |
| Institution: | Unitéde Cardiologie d'Alfort, Maisons-Alfort, France,;UMR INSERM ENVA U841 (Institut National de la Santéet la Recherche Médicale), Maisons-Alfort, France,;Unitéde Pharmacie-Toxicologie, Maisons-Alfort, France,;UMR 955, Génétique Moléculaire et Cellulaire, École Nationale Vétérinaire d'Alfort, Maisons-Alfort, France and;ANTAGENE, Laboratoire de Recherche et d'Analyses en Génomique Animale, Limonest, France |
| Abstract: | 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. |
| Keywords: | Cardiomyopathy Echocardiography Feline Genotype |