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


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.

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Both authors have contributed substantially to the conception and design of this review. There was equal contribution in collecting the data and co-writing the paper. All authors approved the final revision to be published.

Correspondence to Lucia Agoston-Coldea.

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Muresan, I.D., Agoston-Coldea, L. Phenotypes of hypertrophic cardiomyopathy: genetics, clinics, and modular imaging. Heart Fail Rev (2020). https://doi.org/10.1007/s10741-020-09931-1

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  • Hypertrophic cardiomyopathy
  • Genetics
  • Cardiac magnetic resonance
  • Echocardiography
  • Modular imaging