Hypertrophic cardiomyopathy

Med Clin (Barc). 2018 Jun 8;150(11):434-442. doi: 10.1016/j.medcli.2017.09.013. Epub 2017 Nov 14.
[Article in English, Spanish]


Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It is characterized by increased ventricular wall thickness and is highly complex due to its heterogeneous clinical presentation, several phenotypes, large number of associated causal mutations and broad spectrum of complications. It is caused by mutations in sarcomeric proteins, which are identified in up to 60% of cases of the disease. Clinical manifestations of Hypertrophic Cardiomyopathy include shortness of breath, chest pain, palpitations and syncope, which are related to the onset of diastolic dysfunction, left ventricular outflow tract obstruction, ischemia, atrial fibrillation and abnormal vascular responses. It is associated with an increased risk of sudden cardiac death, heart failure and thromboembolic events. In this article, we discuss the diagnostic and therapeutic aspects of this disease.

Keywords: Diagnóstico genético; Genetic diagnosis; Hypertrophic cardiomyopathy; Miocardiopatía hipertrófica; Muerte súbita cardiaca; Mutaciones sarcoméricas; Sarcomeric mutations; Sudden cardiac death; Therapy; Tratamiento.

Publication types

  • Review

MeSH terms

  • Animals
  • Atrial Fibrillation / etiology
  • Atrial Fibrillation / therapy
  • Cardiac Surgical Procedures
  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Cardiomyopathy, Hypertrophic* / genetics
  • Cardiomyopathy, Hypertrophic* / pathology
  • Cardiomyopathy, Hypertrophic* / therapy
  • Cardiovascular Agents / therapeutic use
  • Clinical Trials as Topic
  • Death, Sudden, Cardiac / epidemiology
  • Death, Sudden, Cardiac / etiology
  • Diagnostic Techniques, Cardiovascular
  • Drug Evaluation, Preclinical
  • Dyspnea / etiology
  • Genetic Association Studies
  • Heart / diagnostic imaging
  • Heart Failure / etiology
  • Heart Failure / therapy
  • Heart Septum / surgery
  • Heart Ventricles / pathology
  • Humans
  • Muscle Proteins / genetics
  • Pacemaker, Artificial
  • Penetrance
  • Risk Assessment
  • Sarcomeres / pathology
  • Syncope / etiology


  • Cardiovascular Agents
  • Muscle Proteins