Feline hypertrophic cardiomyopathy (HCM), characterized by left ventricular hypertrophy, is the most common heart disease in domestic cats. Affected cats can appear clinically normal, or they can present with signs of arterial thromboembolism or congestive heart failure. Affected cats can appear clinically normal but left ventricular hypertrophy can be identified by ultrasonography. First signs appear in young adults or adults. Clinical presentation can include signs of arterial thromboembolism, such as bilaterally painful, contracted hind limb muscles, bilateral hind limb ischemia, and pulseless rear limbs with blanched pads. Other affected cats present with signs of congestive heart failure and associated pulmonary oedema. Clinical severity may be correlated to genotype (heterozygous vs. homozygous for the causative mutation). Cardiac hypertrophy occurs in the absence of increased pressure or metabolic stimuli. Histologically, the cardiac muscle shows myofibrillar or myocyte disarray. The MYBPC3 mutations do not eliminate the protein but reduce the amount present in cardiac muscle.
Inheritance: autosomal recessive - read more
Mutation: ALMS1 gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.