Phenotypes of hypertrophic cardiomyopathy: genetics, clinics, and modular imaging

Heart Fail Rev. 2021 Sep;26(5):1023-1036. doi: 10.1007/s10741-020-09931-1.


Hypertrophic cardiomyopathy (HCM) is the most common cardiovascular disease with genetic transmission, characterized by the hypertrophy of any segment of the left ventricle (LV), not totally explained by improper loading conditions, with LV systolic function preserved, increased, or reduced. The histopathological mechanism involved in HCM refers to the primary injury of the myocardium, as follows: disorganized array of myocytes, extracellular matrix modification, microvascular dysfunction, with subsequent appearance of myocardial fibrosis. Multiple sarcomere proteins mutations are responsible for HCM, but two of them are involved in 70% of the cases of HCM: β-myosin heavy chain (MYH7) and myosin-binding protein C (MYBPC3). The development of new genetic techniques involving genome editing is promising to discover a gene therapy for patients with HCM. Clinical presentation may differ from asymptomatic to sudden cardiac death (SCD), the last one targeting younger adults. In this case, the diagnosis and evaluation of SCD risk factors is extremely important. The common method of diagnosis is transthoracic echocardiography, but cardiac magnetic resonance (CMR) imaging represents "gold standard" in the evaluation of HCM patients. Treatment includes pharmacological therapy, surgery, alcohol ablation, and not least SCD prevention.

Keywords: Cardiac magnetic resonance; Echocardiography; Genetics; Hypertrophic cardiomyopathy; Modular imaging.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Cardiomyopathy, Hypertrophic* / genetics
  • Humans
  • Mutation
  • Myocardium
  • Phenotype
  • Ventricular Function, Left