Hypertrophic cardiomyopathy (HCM) is a primary disease of the cardiac muscle 
that occurs mainly due to mutations (>1,400 variants) in genes encoding for the 
cardiac sarcomere. HCM, the most common familial form of cardiomyopathy, 
affecting one in every 500 people in the general population, is typically 
inherited in an autosomal dominant pattern, and presents variable expressivity 
and age-related penetrance. Due to the morphological and pathological 
heterogeneity of the disease, the appearance and progression of symptoms is not 
straightforward. Most HCM patients are asymptomatic, but up to 25% develop 
significant symptoms, including chest pain and sudden cardiac death. Sudden 
cardiac death is a dramatic event, since it occurs without warning and mainly in 
younger people, including trained athletes. Molecular diagnosis of HCM is of the 
outmost importance, since it may allow detection of subjects carrying mutations 
on HCM-associated genes before development of clinical symptoms of HCM. However, 
due to the genetic heterogeneity of HCM, molecular diagnosis is difficult. 
Currently, there are mainly four techniques used for molecular diagnosis of HCM, 
including Sanger sequencing, high resolution melting, mutation detection using 
DNA arrays, and next-generation sequencing techniques. Application of these 
methods has proven successful for identification of mutations on HCM-related 
genes. This review summarizes the features of these technologies, highlighting 
their strengths and weaknesses. Furthermore, current therapeutics for HCM 
patients are correlated with clinically observed phenotypes and are based on the 
alleviation of symptoms. This is mainly due to insufficient knowledge on the 
mechanisms involved in the onset of HCM. Tissue engineering alongside 
regenerative medicine coupled with nanotherapeutics may allow fulfillment of 
those gaps, together with screening of novel therapeutic drugs and target 
delivery systems.