Precision Medicine Gains Ground in Managing Hypertrophic Cardiomyopathy
Berlin, Germany – February 20, 2026 – A shift is underway in the management of hypertrophic cardiomyopathy (HCM), a genetic heart condition, with a growing emphasis on incorporating a patient’s “phenotype” – their observable characteristics – alongside genetic testing for a more personalized approach to care. Traditionally, HCM diagnosis and treatment have focused heavily on identifying the specific gene mutations responsible for the disease. However, recent research highlights the importance of considering the full clinical picture, including how the disease manifests in each individual, to optimize treatment strategies.
HCM, affecting an estimated 1 in 200 people worldwide, is characterized by an abnormal thickening of the heart muscle, particularly the left ventricle. This thickening can obstruct blood flow and lead to symptoms like shortness of breath, chest pain, and palpitations. In some cases, it can cause life-threatening arrhythmias and sudden cardiac death. While genetic mutations, particularly in genes encoding sarcomere proteins, are a primary cause, a significant number of HCM patients do not have identifiable genetic defects. This has spurred a move towards a more holistic understanding of the disease.
Understanding the Genotype-Phenotype Relationship
The core of this evolving approach lies in recognizing the complex interplay between genotype (an individual’s genetic makeup) and phenotype (the observable characteristics resulting from the interaction of genes and environment). While identifying the causative gene mutation is crucial, it doesn’t always predict the severity or progression of the disease. Two individuals with the same genetic mutation can experience vastly different clinical courses. This is where analyzing the phenotype – encompassing everything from the pattern of heart muscle thickening to the presence of symptoms and response to treatment – becomes invaluable.
According to research presented at the Korean Society of Heart Failure’s Precision Medicine and Genetic Research Society Winter Symposium, approximately 60-70% of HCM cases involve variations in sarcomere genes. However, a substantial proportion of patients are classified as “sarcomere-negative,” meaning no mutation is found in these key genes. This underscores the need to look beyond genetics alone. The phenotype, provides critical clues for diagnosis, risk stratification, and treatment decisions in these cases.
The Role of Sarcomere Proteins and Genetic Landscape
HCM is frequently linked to mutations in genes responsible for the production of sarcomere proteins, the fundamental units of muscle contraction. The National Institutes of Health (NIH)-supported ClinGen project has identified nine genes associated with HCM development, with MYBPC3 and MYH7 being the most commonly affected, accounting for roughly 40-50% and 35-40% of cases, respectively. These mutations disrupt the normal structure and function of the sarcomere, leading to the characteristic thickening of the heart muscle.
However, the identification of sarcomere mutations doesn’t provide a complete picture. Researchers are increasingly focused on identifying other genetic factors and non-genetic influences that contribute to the disease. This includes exploring the role of modifier genes – genes that can alter the expression of other genes – and environmental factors, such as lifestyle and other medical conditions.
Implications for Clinical Practice and Future Research
The shift towards precision medicine in HCM management has significant implications for clinical practice. It necessitates a more comprehensive evaluation of each patient, including detailed clinical assessments, advanced imaging techniques (such as echocardiography and cardiac MRI), and genetic testing. The integration of this data allows clinicians to tailor treatment strategies to the individual patient’s needs.
Treatment options for HCM range from lifestyle modifications and medications to more invasive procedures like septal myectomy (surgical removal of a portion of the thickened heart muscle) or alcohol septal ablation (using alcohol to destroy a portion of the thickened muscle). The choice of treatment depends on the severity of symptoms, the presence of obstruction, and the individual patient’s risk profile.
Further research is needed to fully elucidate the complex genotype-phenotype relationships in HCM. Establishing comprehensive patient registries, like the multi-center registry in Korea highlighted by Professor Choi Ui-young of Gangnam Severance Hospital, is crucial for collecting the data needed to identify patterns and develop more effective treatments. The development of personalized risk prediction models, based on both genetic and clinical factors, is too a key priority.
The Promise of Personalized Treatment
The move towards precision medicine represents a significant advancement in the care of patients with hypertrophic cardiomyopathy. By considering both the genetic underpinnings and the clinical manifestations of the disease, clinicians can move beyond a one-size-fits-all approach and deliver more targeted, effective, and personalized treatment. This ultimately aims to improve outcomes and quality of life for individuals living with this challenging condition.
As our understanding of HCM continues to evolve, the integration of advanced technologies, such as artificial intelligence and machine learning, may further enhance our ability to predict disease progression and personalize treatment strategies. The future of HCM management lies in harnessing the power of precision medicine to provide the right care, to the right patient, at the right time.
The ongoing research and clinical advancements offer hope for improved diagnosis, risk stratification, and treatment options for individuals affected by this genetic heart condition. Continued investment in research and collaboration between clinicians and scientists will be essential to unlock the full potential of precision medicine in HCM.
Next Steps: Researchers are continuing to investigate the role of non-sarcomere genes and environmental factors in HCM development. The Korean Society of Heart Failure plans to expand its multi-center registry to include a larger and more diverse patient population. Stay informed about the latest developments in HCM research and treatment by consulting with your healthcare provider and visiting reputable medical websites.
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