Hypertrophic Cardiomyopathy: Clinical Update

JACC Heart Fail. 2018 May;6(5):364-375. doi: 10.1016/j.jchf.2018.02.010. Epub 2018 Apr 11.

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM.

Keywords: CMR; echocardiography; genetics; hypertrophic cardiomyopathy; sudden death.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Hypertrophic, Familial / diagnostic imaging
  • Cardiomyopathy, Hypertrophic, Familial / genetics
  • Cardiomyopathy, Hypertrophic, Familial / therapy*
  • Cardiotonic Agents / therapeutic use
  • Death, Sudden, Cardiac / etiology
  • Early Diagnosis
  • Echocardiography
  • Forecasting
  • Genetic Markers / genetics
  • Genetic Testing
  • Healthy Lifestyle
  • Heart-Assist Devices
  • Humans
  • Hypertrophy, Left Ventricular / therapy
  • Magnetic Resonance Angiography
  • Medical Illustration
  • Mutation / genetics
  • Pedigree
  • Risk Assessment
  • Risk Factors
  • Syncope / etiology
  • Ventricular Outflow Obstruction / etiology

Substances

  • Cardiotonic Agents
  • Genetic Markers