Hypertrophic cardiomyopathy overview: Genetics, screening, and treatment

ABSTRACT: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder marked by unexplained asymmetrical left ventricular wall thickening. This condition exhibits histopathological hallmarks including enlarged heart cell muscles, fibrosis, and associated with left ventricular diastolic dysfunction and outflow tract obstruction. Hypertrophic cardiomyopathy results from sarcomere protein mutations and can cause significant cardiac symptoms, although some, especially young individuals, may remain asymptomatic or have mild symptoms. However, sudden cardiac death remains a significant risk for undiagnosed and diagnosed patients. Advancements in HCM's understanding have transformed screening and management protocols. Once the gene mutation is identified, monitoring can be accomplished with screening electrocardiogram, echocardiography, and cardiac magnetic resonance imaging. Targeted interventions include medications and other surgical and nonsurgical treatments. Furthermore, it is essential to conduct family screening and genetic analysis to aid in identifying other preclinical gene carriers. Timely diagnosis is crucial, given HCM's risk for sudden cardiac death, treatability, and potential for longevity.