Hypertrophic Cardiomyopathy: Diagnosis and Management

Dear Colleagues,

Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiovascular disease. It is an autosomal dominant sarcomeric disorder characterized by unexplained left ventricular hypertrophy in the absence of other cardiac or systemic diseases capable of producing a similar degree of hypertrophy. The left ventricle is typically nondilated, and myocardial hypertrophy is most commonly asymmetric.

The diagnosis of HCM has traditionally relied on two-dimensional echocardiography. Cardiac magnetic resonance (CMR) imaging, particularly with late gadolinium enhancement (LGE), enables assessment of myocardial fibrosis and disease burden. Recent meta-analyses have compared various LGE quantification techniques and demonstrated promising diagnostic and prognostic accuracy. Electrocardiographic abnormalities commonly observed in HCM include voltage criteria for left ventricular hypertrophy, ST-segment and T-wave abnormalities with deep T-wave inversion in the lateral precordial leads, left atrial enlargement, pathological Q waves, and diminished R-wave progression.

One of the major advantages of genetic testing is the ability to identify or exclude affected status among family members before the development of overt left ventricular hypertrophy. Most symptoms in HCM arise from left ventricular outflow tract obstruction, diastolic dysfunction, myocardial ischemia, or arrhythmias originating from myocardial fibrosis. Symptoms may develop at any age and commonly include exertional dyspnea, fatigue, orthopnea, paroxysmal nocturnal dyspnea, presyncope, syncope, and exercise intolerance. Although sudden cardiac death remains the most feared complication, other important clinical outcomes include heart failure, atrial fibrillation, stroke or systemic thromboembolism, and ventricular tachyarrhythmias. Beyond classical phenotypic HCM, patients with HCM phenocopies represent an important population requiring further investigation through integrated imaging, genetic, and molecular approaches.

Treatment strategies for HCM are primarily aimed at reducing left ventricular outflow tract obstruction and improving symptoms. Heart failure symptoms may result from diastolic dysfunction, outflow tract obstruction, mitral regurgitation, microvascular ischemia, or a combination of these pathophysiologic mechanisms. Beta-blockers remain the cornerstone of medical therapy, reducing heart rate, myocardial oxygen demand, and exercise-induced outflow gradients while improving ventricular filling. More recently, selective cardiac myosin inhibitors have emerged as disease-specific therapies, with growing evidence from clinical trials and real-world studies demonstrating their efficacy and safety. Patients with advanced heart failure and systolic dysfunction are generally managed according to established heart failure guidelines. Invasive treatment options include catheter-based alcohol septal ablation and surgical septal myectomy, both of which aim to relieve outflow tract obstruction and improve symptoms.

This Special Issue aims to provide a comprehensive overview of HCM through a series of state-of-the-art reviews authored by experts in the field. The symposium covers the history of HCM, imaging, clinical presentation, genetics, sudden cardiac death, pharmacotherapy, septal reduction therapies, controversies in management, and future directions in research and clinical practice.

Dr. Muhammad Fuad Jan
Prof. Dr. Abdul Jamil Tajik
Guest Editors

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• hypertrophic cardiomyopathy
• genetics
• heart failure
• sudden death
• echocardiography