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Myocardial disease
Role of echocardiography in the diagnosis and management of hypertrophic cardiomyopathy
  1. Fernando Dominguez1,2,3,
  2. Esther González-López1,2,3,
  3. Laura Padron-Barthe1,2,3,
  4. Miguel Angel Cavero1,
  5. Pablo Garcia-Pavia1,2,3,4,5
  1. 1 Department of Cardiology, Heart Failure and Inherited Cardiac Diseases Unit, Hospital Universitario Puerta de Hierro, Madrid, Spain
  2. 2 Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain
  3. 3 Centro de Investigacion Biomedica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain
  4. 4 University Francisco de Vitoria (UFV), Pozuelo de Alarcon, Madrid, Spain
  5. 5 European Reference Network in Heart Diseases (ERN GUARD-HEART)
  1. Correspondence to Dr Pablo Garcia-Pavia, Department of Cardiology, Hospital Universitario Puerta de Hierro Manuel de Falla, Majadahonda, Madrid, 28222, Spain; pablogpavia{at}yahoo.es

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Learning objectives

  • To understand the key role of echocardiography in the diagnosis and management of hypertrophic cardiomyopathy (HCM).

  • To learn the fundamental features that an echocardiographic report of a patient with HCM should include.

  • To differentiate sarcomeric HCM from phenocopies based on echocardiographic findings.

  • To understand the pros and cons of each echo modality (transthoracic, transoesophageal, three-dimensional) in different clinical scenarios.

  • To appreciate the importance of echo monitoring during invasive procedures in obstructive HCM.

Introduction

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, affecting 1 in 500 individuals in the general population. In 60% of cases, HCM presents an autosomal-dominant trait due to mutations in genes encoding cardiac sarcomeric proteins, and the remaining aetiologies include a variety of clinical entities such as glycogen and lysosomal storage disorders, mitochondrial diseases or cardiac amyloidosis (CA), among others.1 In all cases, a systematised echocardiographic approach is essential to establish the diagnosis of HCM and to decide on specific therapeutic strategies. Moreover, echocardiography plays a key role in the evaluation and guidance of the different options to tackle obstructive HCM (HOCM). Indeed, recent improvements in survival and quality of life in HCM might be attributed to several factors, including the development of reliable imaging techniques. On top of this, echocardiography provides valuable information for the management of HCM regarding other aspects beyond left ventricular outflow tract obstruction (LVOTO). This includes sudden cardiac death (SCD) prediction, thromboembolic risk stratification and family screening.

In this article, we review and focus on the current role of echocardiography in the diagnosis and management of HCM.

Role of echocardiography in the diagnosis and evaluation of HCM

A systematic echocardiographic approach is essential to establish the diagnosis of HCM and should include the following features (summarised in figure 1).

Figure 1

Echocardiographic assessment of hypertrophic cardiomyopathy (HCM): key points. LVOTO, left ventricular outflow tract obstruction; SAM, systolic anterior motion; WT, wall thickness.

Left ventricular hypertrophy evaluation

In individuals with suspected …

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Footnotes

  • FD and EG-L contributed equally and are co-first authors.

  • Contributors FD and EG-L designed manuscript content and drafted the manuscript. LP-B and MAC obtained echocardiographic images, constructed the figures and critically reviewed the manuscript. PG-P designed manuscript content, wrote the manuscript and takes full responsibility of its content.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; externally peer reviewed.

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