Hypertrophic cardiomyopathy (HCM) is caused in part by different mutations in genes encoding various components of the sarcomere. The disease is characterized by marked left ventricular hypertrophy (LVH) in the absence of predisposing heart (aortic stenosis) or cardiovascular conditions (such as during long-term hypertension).
The clinical manifestations of HCM vary from one individual to another and may be asymptomatic or eventually lead to progressive heart failure, culminating in sudden death.
Common symptoms include shortness of breath, chest pain, palpitations, orthostatic hypotension, presyncope and syncope. The age of onset of the disease is quite heterogeneous and can appear during adolescence or adulthood, old age, in infancy or childhood.
The HCM has a prevalence of around one in 500 people, and it is attributable to a mutation present in the MYH7 gene, at the 55% -70% of cases that presenting an autosomal dominant inheritance . MYH7 encodes the myosin heavy chain. Furthermore, HCM is also associated with mutations in other genes related to muscle contraction, such as the MYLK2 (kinase myosin light chain caridíaca) and CAV3 (caveolin-3), among others.