Hypertrophic cardiomyopathy (HCM) is typically defined by thickened (hypertrophied) heart muscle. People suffering from undiagnosed HCM may have symptoms i.e. shortness of breath, chest pain and may leads to life-threatening irregular heart rhythms (arrhythmias) or sudden death.
Approximately 5%-10% of individuals with HCM progress to end-stage heart disease. The annual mortality rate for end-stage heart disease is estimated at 11% and cardiac transplantation may be required. The 6% of HCM experienced sudden death and resuscitated cardiac arrest. HCM may cause Sudden Cardiac Death in competitive athletes.
Genetic testing confirms if there is HCM or relatives in the family is at high risk for inherited pathogenic sarcomere variant in genes.