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Hypertrophic Cardiomyopathy (HCM)



Hypertrophic Cardiomyopathy (HCM)

Diala Steitieh, MD
Assistant Professor of Medicine
Director, Hypertrophic Cardiomyopathy Program
Division of Cardiology 
Weill Cornell Medicine 

 

Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by the thickening of the heart muscle (hypertrophy), affecting at least 1 in 500 individuals globally. In Qatar, HCM was previously found to account for almost 14% of idiopathic cardiomyopathy cases1. More recent data from Hamad General Hospital has also identified various patterns of hypertrophy among HCM patients, with diverse clinical presentations and electrocardiographic findings2. This hypertrophy can impede blood flow and increase the risk of sudden cardiac death, particularly in asymptomatic children and young adults.

Recent advancements in HCM management include the development of targeted pharmacological treatments. One notable example is mavacamten, which is recommended in order to reduce left ventricular outflow tract obstruction and improve symptoms in patients with obstructive HCM3. By modulating cardiac muscle contractility, mavacamten offers a novel therapeutic approach beyond traditional beta-blockers and calcium channel blockers.

In addition to pharmacotherapy, there is an increasing emphasis on genetic evaluation in HCM care. The Centers for Disease Control and Prevention (CDC) highlights the importance of genetic testing and counseling for individuals diagnosed with HCM and their relatives4. Identifying specific genetic mutations can facilitate early detection and management, potentially reducing adverse outcomes. Important statistics related to HCM in Qatar can be inferred from genetic studies and population-based research. The Qatar Genome Program (QGP) identified a significant number of medically actionable genetic variants, including those related to cardiovascular diseases, in the Qatari population5. This highlights the importance of genetic screening and personalized medicine in managing HCM and other genetic disorders in Qatar.

 

References

  1. El-Menyar AA, Bener A, Numan MT, Morcos S, Taha RY, Al-Suwaidi J. Epidemiology of Idiopathic Cardiomyopathy in Qatar during 1996–2003. Med Princ Pract. 2005;15(1):56-61. doi:10.1159/000089387
  2. Helmy S, Maauof G, Shaaban A, et al. Hypertrophic Cardiomyopathy: Prevalence, Hypertrophy Patterns, and Their Clinical and ECG Findings in a Hospital at Qatar. Heart Views. 2011;12(4):143. doi:10.4103/1995-705X.90900
  3. Ommen SR, Ho CY, Asif IM, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol. 2024;83(23):2324-2405. doi:10.1016/j.jacc.2024.02.014
  4. About Hypertrophic Cardiomyopathy (HCM) | Heart Disease, Family Health History, and Familial Hypercholesterolemia | CDC. Accessed January 29, 2025. https://www.cdc.gov/heart-disease-family-history/about/about-hypertrophic-cardiomyopathy-hcm-and-family-health-history-of-sudden-death.html
  5. Elfatih A, Saad C, Ismail S, et al. Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants. Eur J Hum Genet. 2024;32(11). doi:10.1038/S41431-024-01656-1