Hypertrophic cardiomyopathy (HCM) is a genetic heart disease in which there is an abnormal thickening of the left ventricle. As this ventricle is responsible for the blood supply to the entire body, HCM can significantly impair the heart’s pumping capacity. This can result in a reduced oxygen supply to the organs.

The disease can have serious consequences, including cardiac arrhythmia, abnormal blood clotting (risk of thrombosis) and heart failure. The clinical symptoms are highly variable and range from reduced exercise tolerance and breathing difficulties to fainting or collapse.

A genetic variant in the TNNI3 gene associated with HCM has been identified in a family of Golden Retrievers. The disease is believed to be inherited in an autosomal recessive manner and, in the worst case, can lead to sudden cardiac death.