One of Cardiology's “great masqueraders” and the most common heritable
cardiovascular disease with a heterogeneous clinical presentation, hypertrophic
cardiomyopathy (HCM) has been investigated extensively over the past two decades
affecting approximately 1 in 500 individuals. HCM is one of the primary causes of
sudden death in young people and a significant cause of heart failure at any age. Once
considered deadly, untreatable, and relentless as delays and mistakes in diagnosis
abound, it has become a highly treatable disease, though contemporary with the help of
genomic medicine. The continuous research and discovery of new HCM susceptibility
genes, recent advances in the diagnosis and treatment of HCM, a growing amount of
data from genotype-phenotype correlation studies, and the introduction of
commercially available genetic tests for HCM have been crucial in decreasing the
frequency of adverse clinical events. However, complete elimination of sudden cardiac
death remains an elusive gain. Therefore, it is essential that a modern-day basic or
clinical physician, cardiologist, cardiac surgeons, and cardiovascular geneticist
understand the diagnostic, prognostic, and therapeutic implications of HCM. This
chapter aims to evaluate the new development and the novel achievements made
compared to previous eras of the disease across published European registries. It also
analyses the prevalent issues and misconceptions regarding HCM that persist among
practicing physicians today. The chapter further focuses on the risk assessment, the
various diagnosis and treatment therapies in children, adolescent, adults, and athletes in
contrast to the current European set guidelines for the diagnosis and management of
HCM patients.
Keywords: Atrial fibrillation, Athletes, Alcohol septal ablation, Cardiomyopathy,
Cardiovascular pathology, Complications, Cardiac transplant, Children, Dual
chamber pacing, Echocardiography, Genomics, Guidelines for eligibility and
disqualification, Hypertrophic cardiomyopathy, Heart failure, Implantable
cardioverter defibrillator, Inappropriate shock, Mortality, Reverse remodeling,
Risk stratifications, Sudden cardiac death, Septal reduction therapy, Ventricular
Arrhythmias.
