What are the most challenging aspects in diagnosing and treating individuals with hypertrophic cardiomyopathy, a rare heart disease, and how can advancements in medical research address these challenges?
Several cardiac conditions like Severe AS, severe volume depletion or Sub aortic stenosis mimicking HOCM. Echocardiography., some clinical test like Valsalva manoveur , hand grip test help in differentiating HOCM from AS . CT or MRI imaging willl give more information
This is interesting and difficult question at the same time, As we know cardiomyopathy in general is a debilitating disease and a burden on any health system because of its challenges of different aspects. Just a few years ago, treatment for HCM was restricted to symptomatic management. The use of non-selective medications like β blockers and calcium channel blockers, alongside septal reduction surgery, ICDs for primary and secondary prevention of SCD, and lifestyle modifications, constituted the mainstays of HCM treatment for a considerable period. However, advancements in cardiac sciences and understanding of the pathophysiological processes and molecular foundations of the disease have led to acceptable improvement in term of diagnosis and management due to the development of specific diagnostic techniques and new drug classes. This led to better understanding not just of the symptoms, but also the progression of the disease itself. the symbolic effect of this shift in paradigm are myosin modulators, such as mavacamten and aficamten plus, significant breakthroughs may arise from the fields of genetics and biotechnology . Giving an example of such changes is the use of genome-editing technologies , which can potentially repair the genome of embryos, exploiting the monogenic nature of HCM. Others is the modulation of gene expression by siRNAs that inhibit the expression of the disease-causing allele. What would be a game changer In my humbled opinion is the artificial intelligence which may
play a significant role or revolutionize this field, contributing to minimally invasive and remote monitoring tools that could enhance risk stratification schemes and facilitate early therapeutic interventions.
Accurately diagnosing the condition requires a combination of clinical symptoms, imaging studies like echocardiograms, and genetic testing. Secondly, managing the symptoms and complications, such as arrhythmias and heart failure, often requires a multidisciplinary approach involving cardiologists, genetic counselors, and sometimes cardiac surgeons. Additionally, since hypertrophic cardiomyopathy can have a variable presentation and progression, ongoing monitoring and adjustment of treatment plans are crucial.
Initial choice is 2D echo but Stress TEE and Stress Echo mught be useful in case of equivocal symptoms Minimal invasive surgery in the form of septal dissection ablation are useful in some cases