Open AccessProspective 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
Author(s) -
Carlos Sampedrano C.,
Chetboul V.,
Mary J.,
Tissier R.,
Abitbol M.,
Serres F.,
Gouni V.,
Thomas A.,
Pouchelon J.L.
Publication year - 2009
Publication title -
journal of veterinary internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.356
H-Index - 103
eISSN - 1939-1676
pISSN - 0891-6640
DOI - 10.1111/j.1939-1676.2008.0218.x
Subject(s) - cats , medicine , population , left ventricular hypertrophy , hypertrophic cardiomyopathy , mutation , interventricular septum , gene mutation , cardiology , endocrinology , genetics , biology , gene , ventricle , blood pressure , environmental health
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.