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Prospective Echocardiographic and Tissue Doppler Screening of a Large Sphynx Cat Population: Reference Ranges, Heart Disease Prevalence and Genetic Aspects

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Prospective Echocardiographic and Tissue Doppler Screening of a Large Sphynx Cat Population: Reference Ranges, Heart Disease Prevalence and Genetic Aspects Journal of Veterinary Cardiology (2012) -, -e- www.elsevier.com/locate/jvc Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: Reference ranges, heart disease prevalence and genetic aspects Valerie Chetboul, DVM, PhD a,b,*, Amandine Petit, DVM a, Vassiliki Gouni, DVM a, Emilie Trehiou-Sechi, DVM a, Charlotte Misbach, DVM a, David Balouka, DVM a, Carolina Carlos Sampedrano, DVM, PhD a, Jean-Louis Pouchelon, DVM, PhD a,b, Renaud Tissier, DVM, PhD b,c,e, Marie Abitbol, DVM, PhD d,e a Universite´ Paris-Est, Ecole Nationale Ve´te´rinaire d’Alfort, Unite´ de Cardiologie d’Alfort (UCA), Centre Hospitalier Universitaire Ve´te´rinaire d’Alfort (CHUVA), 7 avenue du ge´ne´ral de Gaulle, 94704 Maisons-Alfort cedex, France b INSERM, U955, Equipe 03, 51 avenue du Mare´chal de Lattre de Tassigny, 94010 Cre´teil cedex, France c Universite´ Paris-Est, Ecole Nationale Ve´te´rinaire d’Alfort, Unite´ de Pharmacie-Toxicologie, 7 avenue du ge´ne´ral de Gaulle, 94704 Maisons-Alfort cedex, France d UMR955 INRA-ENVA Ge´ne´tique Fonctionnelle et Me´dicale, Ecole Nationale Ve´te´rinaire d’Alfort, 7 avenue du ge´ne´ral de Gaulle, 94704 Maisons-Alfort cedex, France Received 17 February 2012; received in revised form 5 July 2012; accepted 7 August 2012 KEYWORDS Abstract Objectives: (1) To investigate heart morphology and function using Feline; echocardiography and tissue Doppler imaging (TDI), (2) to determine heart disease Genetic; prevalence and characteristics, and (3) to assess potential genetic features in a po- Hypertrophic cardio- pulation of Sphynx cats presented for cardiovascular screening. myopathy; Animals: A total of 147 echocardiographic examinations, including 33 follow-ups, Tissue Doppler were performed by trained observers on 114 Sphynx cats of different ages (2.62 Æ 1.93 years [0.5e10.0]) from 2004 to 2011. Methods: Sphynx cats underwent a physical examination, conventional echocardio- graphy, and, if possible, two-dimensional color TDI. * Corresponding author. E-mail address: [email protected] (V. Chetboul). e Contributed equally to this work. 1760-2734/$ - see front matter ª 2012 Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.jvc.2012.08.001 Please cite this article in press as: Chetboul V, et al., Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: Reference ranges, heart disease prevalence and genetic aspects, Journal of Veterinary Cardiology (2012), http:// dx.doi.org/10.1016/j.jvc.2012.08.001 2 V. Chetboul et al. Results: Conventional echocardiographic findings included 75/114 normal (65.8%) and 39/114 (34.2%) abnormal examinations with a diagnosis of either congenital heart diseases (n ¼ 16) or hypertrophic cardiomyopathy (HCM, n ¼ 23). In adult healthy cats, a significant body weight effect was observed for several echocardiographic variables, including end-diastolic left ventricular (LV) free wall (P < 0.01), interven- tricular septum (P < 0.001), and LV diameter (P < 0.001). Mitral valve dysplasia (MVD) was observed as a single or associated defect in 15/16 cats with congenital heart diseases. A significant increase in HCM prevalence (P < 0.001) was observed according to age. The pedigree analysis of a large family (n ¼ 81) suggested an autosomal domi- nant mode of inheritance with incomplete penetrance for HCM. Conclusions: Body weight should be taken into account when interpreting values of diastolic myocardial wall thicknesses in Sphynx cats. Additionally, HCM and MVD are two relatively common heart diseases in this feline breed. More pedigree data are required to confirm the inheritance pattern of HCM at the breed level. ª 2012 Elsevier B.V. All rights reserved. feline heart disease and remains a major cause of Abbreviations morbidity and mortality (the latter associated with a risk of sudden death).7e13 One previous report has 2D two-dimensional specifically characterized echocardiography in the Ao aorta Sphynx breed. Out of the 132 Sphynx cats that were HCM hypertrophic cardiomyopathy examined during the study period, 35 presented IVCT isovolumic contraction time with echocardiographic abnormalities consistent IVRT isovolumic relaxation time with a diagnosis of HCM.6 Regarding HCM in the IVS interventricular septum Maine Coon and Ragdoll breeds, the epidemiological LA left atrium and clinical characteristics, echocardiographic LV left ventricle hypertrophic patterns, survival, and genetic LVFW left ventricular free wall aspects have been described.14e18 The aims of this MVG myocardial velocity gradient prospective observational study were therefore (1) TDI tissue Doppler imaging to investigate heart morphology and function using 2D echocardiography and TDI, (2) to determine heart disease prevalence and characteristics, and The Sphynx (or Canadian hairless cat) is an lastly, (3) to assess potential cardiac genetic uncommon almost hairless feline breed, which was features in a population of Sphynx cats presented first recorded in Canada in 1966.1e3 This breed is for cardiovascular screening at the Cardiology Unit related to the Devon Rex breed, and both of them of Alfort from 2004 to 2011. are characterized by mutations in the Keratin KRT71 gene.1 The Cat Fanciers Association accepted this unusual looking breed for registra- Animals, materials and methods tion and competition in 1998.3 The Sphynx breed has been expanding in Europe for several years, Animals and in November 2003 a Sphynx cat club was created in France in order to promote this breed. Client- and breeder-owned Sphynx cats, brought to The Sphynx cat has been mostly studied for skin the Cardiology Unit of Alfort (National Veterinary diseases and muscular dystrophy.4,5 However, little School of Alfort, France) for cardiovascular screening data is available for this feline breed regarding between April 2004 and January 2011, were normal two-dimensional (2D) echocardiographic prospectively recruited. Cats receiving cardiac and tissue Doppler imaging (TDI) variables, or the medications (i.e., benazepril, diltiazem, furose- prevalence of heart diseases including hypertrophic mide) were not included in the study. All animals cardiomyopathy (HCM).6 This acquired heart underwent a complete physical and conventional disease is a primary myocardial disorder which is echocardiographic examination. If the animal was characterized by increased cardiac mass with calm, a 2D color TDI examination was also performed. a concentrically hypertrophied, non-dilated left Reference intervals were established from e ventricle (LV).7 10 It is considered the most common healthy adult (12 months) Sphynx cats without Please cite this article in press as: Chetboul V, et al., Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: Reference ranges, heart disease prevalence and genetic aspects, Journal of Veterinary Cardiology (2012), http:// dx.doi.org/10.1016/j.jvc.2012.08.001 Echocardiography and tissue Doppler in Sphynx cats 3 any history of heart and respiratory diseases, and obstruction characterized by turbulent aortic flow of with LV myocardial wall thicknesses <6 mm.7 All high velocity (>2 m/s).19 The presence of a systolic healthy cats with end-diastolic myocardial wall anterior motion of the mitral valve, defined as thicknesses between 5 and 6 mm had to have a TDI a motion of the anterior mitral valve leaflet toward examination showing no radial and longitudinal TDI the LV outflow tract, was also assessed using both 2D diastolic abnormalities (i.e., early/late myocardial and M-modes.24 Additionally, both color-flow and ratio (E/A) should be >1) to be considered truly continuous-wave Doppler modes were used to rule in normal.19 or out a dynamic right ventricular outflow tract obstruction from the right parasternal short-axis Conventional echocardiography and Doppler view at the level of the aortic valve. Hypertrophic cardiomyopathy was diagnosed as Standard transthoracic M-mode, 2D and Doppler previously described, based on the following 2D and blood flow measurements were performed with M-mode criteria: end-diastolic LVFW and/or IVS continuous ECG monitoring by trained observers thickness 6 mm on the M-mode exam or sub-aortic (CCS, VC, VG) in awake standing cats by use of 2 end-diastolic IVS thickness 6 mm.8 Hypertrophy ultrasound unitsf equipped with 7.5e10 MHz was considered as symmetric if the IVS/LVFW ratio phased-array transducers, as previously described at end-diastole was 0.7e1.3, or as asymmetric with and validated.20 A mean of 3 measurements was predominant IVS or LVFW thickening (if the end- obtained for each M-mode parameter on 3 consec- diastolic IVS/LVFW was >1.3 or <0.7, respec- utive cardiac cycles on the same frame. Left tively) or if only 1 of these 2 myocardial walls were ventricular end-diastolic and end-systolic diame- thickened.25 The whole morphological aspect of the ters, and LV free wall (LVFW) and interventricular heart (including papillary muscles) was also septal (IVS) thicknesses at end-diastole and end- assessed using the 2D mode. systole were measured by use of the 2D-guided M- In cats >6 years old with an LV hypertrophic mode from the right parasternal short-axis pattern, HCM was diagnosed after excluding both view,21,22 and the LV shortening fraction was then systemic arterial hypertension (normal: systolic calculated. The right ventricular end-diastolic arterial blood pressure <160 mmHg in unstressed diameter was also measured using the same M- cats using the Doppler method)26,g and hyperthy- mode view. As already performed
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