Left-right lateral projection of a 9 years old <i>Saimiri sciureus</i> showing the measurements of the length and height of the thoracic vertebrae (white lines) and sternebrae (black lines).

<p>The diameter of the aorta (red line) and caudal vena cava (blue line) are also presented. The angle of cardiac inclination is represented by the two white lines between the cranial border of the cardiac silhouette and the sternebrae.</p

Radiographic findings (cm) of the cardiac system of healthy anesthetized <i>Saimiri</i> spp.

<p>Radiographic findings (cm) of the cardiac system of healthy anesthetized <i>Saimiri</i> spp.</p

Left-right lateral thoracic radiograph of a 4y old female <i>Saimiri boliviensis peruviensis</i> illustrating the measurement of the VHS (Vertebral Heart Score).

<p>Left-right lateral thoracic radiograph of a 4y old female <i>Saimiri boliviensis peruviensis</i> illustrating the measurement of the VHS (Vertebral Heart Score).</p

Means and standard deviations of radiographic vertebral body lengths in 13 <i>Saimiri</i> spp.

<p>Note the rapid increase in vertebral body length caudal to T9.</p

Dorsoventral projection of a 2 year old <i>Saimiri boliviensis peruviensis</i>.

<p>The cardio-thoracic ratio is shown with the black lines; The left and right costophrenic angles are visualized with the white lines where the diaphragm meets the ribs. Note the presence of a clavicula (white arrow).</p

Summarized radiographic measurements (mm) and findings of the skeletal system of 13 healthy anesthetized <i>Saimiri</i> spp.

<p>Summarized radiographic measurements (mm) and findings of the skeletal system of 13 healthy anesthetized <i>Saimiri</i> spp.</p

Radiographic anatomical measurements of the main vascular structures (mm).

<p>Radiographic anatomical measurements of the main vascular structures (mm).</p

Radiographic findings and measurements of the respiratory system.

<p>RCA: Right costophrenic angle, LCA: Left costophrenic angle.</p

Data_Sheet_1_Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines.docx

IntroductionThe correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human medicine, the American college of Medical Genetics (ACMG) guidelines provide a framework for variant classification. This study aims to apply these guidelines to six genetic variants associated with hypertrophic cardiomyopathy (HCM) in certain cat breeds and to propose a modified criterion for variant classification.MethodsGenetic samples were sourced from five cat breeds: Maine Coon, Sphynx, Ragdoll, Devon Rex, and British Short- and Longhair. Allele frequencies were determined, and in the subset with phenotypes available, odds ratios to determine the association with HCM were calculated. In silico evaluation followed with joint evidence and data from other publications assisting in the classification of each variant.ResultsTwo variants, MYBPC3:c.91G > C [A31P] and MYBPC3:c.2453C > T [R818W], were designated as pathogenic. One variant, MYH7:c.5647G > A [E1883K], was found likely pathogenic, while the remaining three were labeled as variants of unknown significance.DiscussionRoutine genetic testing is advised solely for the MYBPC3:c.91G > C [A31P] in the Maine Coon and MYBPC3:c.2453C > T [R818W] in the Ragdoll breed. The human ACMG guidelines serve as a suitable foundational tool to ascertain which variants to include; however, refining them for application in veterinary medicine might be beneficial.</p