The role of echocardiography in the diagnosis and management of hypertrophic cardiomyopathy.

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, affecting one 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, 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 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.