Feline Top 5 Genetic Diseases Flashcards
what breeds are predisposed to HCM?
maine coons, ragdolls, persian, sphynx, norwegian forest cat, & DSH
what clinical signs can be seen with HCM?
can be asymptomatic to CHF with tachypnea, dyspnea, thromboembolic disease with cyanotic nail beds, paraplegia, & sudden death
what is seen on thoracic rads of a cat with HCM?
normal or cardiomegaly, dilated left atrium (valentine shape on VD), pulmonary edema/congestion, & pleural effusion
what is seen on an echo of a cat with HCM?
atrial dilation, left ventricular wall thickening/papillary muscle hypertrophy, & systolic anterior motion of the mitral valve if obstructive cardiomyopathy
how is HCM treated?
only treat if symptomatic - oxygen, furosemide, & ACE inhibitor
what is the genetic hereditary seen in HCM in maine coon & ragdool cats?
autosomal dominant with incomplete penetrance
what gene is affected in cats with HCM?
mutation affects the cardiac myosin binding c gene (MYBPC3)
what breeds are predisposed to polycystic kidney disease?
persian, exotic, himalayan, ragdoll, & british shorthairs
what clinical signs can be seen in cats with polycystic kidney disease?
asymptomatic to signs of chronic renal failure with pu/pd, lethargy, weight loss, & vomiting at around 3-10 years of age (hypertension is uncommon)
how is polycystic kidney disease diagnosed?
azotemia, genetic testing, & the presence of single to multiple cysts
how is polycystic kidney disease treated?
supportive care if renal failure is present
what are the genetics involved & affected in cats with polycystic kidney disease?
autosomal dominant mutation of the PKD1 gene results in abnormal production of polycystin proteins causing abnormal dilations or renal tubules which causes the cysts
what cat breed is affected with sacrocaudal dysgenesis?
manx cats
what clinical signs are seen in cats with sacrocaudal dysgenesis?
urinary or fecal incontinence, pelvic limb weakness, & bunny hopping
how is sacrocaudal dysgenesis diagnosed?
physical exam, abdominal rads may show megacolon, spinal rads, CT, MRI showing malformation of the sacrum, & spina bifida may be associated with sacrocaudal dysgenesis
how is sacrocaudal dysgenesis treated?
bladder management
what are the genetics involved & affected in cats with sacrocaudal dysgenesis?
autosomal dominant of the manx gene M, all manx cats are heterozygous Mm & MM is lethal, mm cats are tailed and therefore not a manx
what is the prognosis for recovery of normal function for a manx cat with sacrocaudal dysgenesis?
poor
what does polydactyly mean? what is the most common form? least common?
greater than 5 digits on a limb, most common - preaxial, so extra toes on the medial paw, least common - lateral with extra toes on the lateral side
how is polydactyly diagnosed?
physical exam, abdominal rads may show megacolon, spinal rads, CT, MRI showing malformation of the sacrum, & spina bifida may be associated with sacrocaudal dysgenesis
how is polydactly treated?
keep claws trimmed - claws may curve around & puncture the paw pad requiring amputation
what is polydactyly also known as?
hemingway mutant - ernest hemingway kept many of them at his home
what other animals may be affected by polydactyly?
horses, ruminants, & pigs
what cats are commonly affected by hereditary deafness?
white cat with blue eyes that is unresponsive to auditory stimuli
how is hereditary deafness diagnosed?
no response to whistles/loud noises in the exam room, be careful with metal tables because vibrations can cause the cat to react
how is hereditary deafness treated?
none - don’t let them go outside
what is the pathogenesis of hereditary deafness?
autosominal dominant (epistatic white masking gene W) caused by the degeneration of the stria vascularis which is necessary for endolymph production & endocochlear potential required for cochlear hair cell function at 1-3 weeks of age
is the vestibular apparatus affected in cats with hereditary deafness?
nope
what is necessary to detect unilateral deafness in a cat?
brainstem auditory evoked response
