by Hypertrophic cardiomyopathy (HCM) is a hereditary heart disease characterized by abnormal thickening of the heart muscle. The thickening makes it harder for the heart to pump blood which can lead to chest pain, dizziness, fainting and in rare cases sudden cardiac death. HCM is estimated to affect 1 in every 500 people worldwide. It is the most common inheritable cardiovascular disease and a leading cause of sudden cardiac death in young athletes.
Drug Therapies for Hypertrophic Cardiomyopathy (HCM) Therapeutics
Several drug therapies have been used for managing the symptoms of Hypertrophic Cardiomyopathy (HCM) Therapeutics. Beta blockers like metoprolol are commonly prescribed to reduce the workload of the heart and help control heart rhythm. Calcium channel blockers such as verapamil and diltiazem can also help relax the heart muscle and improve blood flow through enlarged ventricles. Disopyramide has shown promise in reducing outflow tract obstruction in some patients by relaxing the heart muscle. For patients experiencing worsening heart failure symptoms, ACE inhibitors and ARBs are used to improve hemodynamics and reduce stress on the heart. However, drug therapies alone are not sufficient to fully control HCM and new advancements are needed.
catheter-based therapies
Invasive catheter-based therapies provide minimally-invasive alternatives to open-heart surgery for treating outflow tract obstruction in HCM. Septal reduction therapies involve perforating or ablating the thickened heart muscle via catheter to relieve pressure. Alcohol septal ablation (ASA) involves injecting small amounts of alcohol into a specific cardiac septal artery, causing a small, controlled injury to the septum. Over time this injury scar tissue forms, reducing bulk in the septum and improving symptoms. ASA has shown to successfully reduce obstruction and symptoms in over 90% of patients. Transaortic septal myocardial reduction (TASMR) utilizes a balloon catheter to create multiple controlled puncture wounds in the septum to achieve a similar therapeutic effect. These procedures help avoid the risks of open-heart surgery for many patients.
device-based therapies
Implantable cardioverter defibrillators (ICDs) play an important role in preventing sudden cardiac death in high-risk HCM patients. ICDs monitor the heart rhythm continuously and can deliver electrical shocks to restore normal rhythm if dangerous arrhythmias like ventricular fibrillation are detected. However, ICDs do not improve HCM symptoms directly. New device-based therapies are being explored as adjunctive or alternative treatments for symptoms.
Septal pacing utilizes special leads implanted in the septal region to electrically stimulate and coordinate contraction of the thickened heart muscle. This “cardiac resynchronization therapy” aims to restore the timing of septal contraction and relax the outflow tract, reducing obstruction and improving pumping ability. Early studies show septal pacing may provide benefits similar to septal reduction therapies. Transvenous septal alcohol ablation uses a catheter-based approach to deliver small doses of alcohol directly into the septum, achieving a similar therapeutic effect as the transarterial ASA procedure but via a less invasive route. These new device technologies hold promise but still require more clinical research.
Surgical Myectomy for Severe HCM
For patients with very severe, medication-resistant symptoms from dynamic LVOT obstruction, open-heart surgical myectomy remains the gold standard treatment approach. The myectomy procedure involves surgically removing or thinning out the thickened portion of the septum via an incision made in the heart. Over 90% of patients experience immediate and substantial relief of obstruction after a successful myectomy. While considered high risk, myectomy can be lifesaving for those with very limiting symptoms or at high risk of sudden cardiac death from dynamic outflow tract obstruction. Advances in surgical techniques have made the procedure safer over time. However, for many patients catheter-based and device alternatives provide less invasive therapeutic options.
Gene Therapies and CRISPR Technologies
The most promising new therapies aim to directly address the genetic cause of HCM. Several gene-silencing approaches are undergoing investigation including antisense oligonucleotides (ASOs), RNA interference strategies, and CRISPR/Cas9 gene editing. ASOs are short chains of modified DNA or RNA that bind to and destabilize mRNA from disease-causing genes, preventing the production of mutant sarcomere proteins. Early experimental studies delivering ASOs targeting myosin heavy chain gene mutations show reduction in mRNA and protein levels.
CRISPR/Cas9 gene editing technologies allow direct modification of DNA, either by correcting mutations or repressing gene expression. Delivery of CRISPR components via adeno-associated viruses can edit targeted heart cells in animal models of HCM. Early human trials are underway using CRISPR to treat inherited blindness and blood disorders. If proven safe and effective for HCM, gene therapies could revolutionize treatment by slowing or even halting disease progression at the molecular level, before thickening and symptoms develop. However, many challenges remain regarding long-term effects, delivery methods to the heart, and regulating genomic changes.
Significant advancements in our understanding and treatment of HCM have emerged. While drug therapies provide symptom management, minimally-invasive catheter techniques and implanted devices offer alternatives to open-heart surgery. Most promising on the horizon are genetic strategies that could directly target the inherited causes by modifying RNA or DNA. With continued research progress, these new therapeutic approaches aim to drastically improve quality of life for HCM patients and potentially slow or even halt disease progression through precision genetic targeting.
*Note:
1.Source: Coherent Market Insights, Public sources, Desk research
2.We have leveraged AI tools to mine information and compile it
Money Singh
Money Singh is a seasoned content writer with over four years of experience in the market research sector. Her expertise spans various industries, including food and beverages, biotechnology, chemical and materials, defense and aerospace, consumer goods, etc. LinkedIn
