Hypertrophic cardiomyopathy

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy and represents a leading cause of morbidity and mortality. HCM is a sarcomeric disease characterized by genetically determined defects in sarcomere proteins, leading to left ventricular hypertrophy, hypercontractility and diastolic dysfunction. The phenotypic spectrum of the disease is heterogeneous, ranging from mild forms that can remain stable and asymptomatic for many years, through to childhood-onset, severe cases that can result in progressive heart failure and ventricular arrhythmias. Multi-imaging techniques including echocardiography and cardiac magnetic resonance are pivotal for diagnostic and prognostic assessment in HCM. For decades, therapeutic approaches were limited to invasive septal reduction therapies and nonspecific pharmacological treatment for heart failure. In the last 10 years, however, an in-depth understanding of the pathological mechanisms of HCM has led to the development of targeted therapies, such as myosin inhibitors, which have proven to be safe and effective in improving functional capacity and reducing symptoms. Innovative therapeutic approaches, such as gene therapies that aim to target the genetic variants underpinning the condition, are currently under investigation.