Diagnosing and treating hyperthophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic condition where the heart muscle becomes abnormally thick, making it harder for the heart to pump blood out to the rest of the body. This thickening can also cause rhythm problems, leading to symptoms such as chest pain, shortness of breath, fatigue or fainting.

One of the most serious concerns with HCM is the risk of sudden cardiac death, especially in younger people and athletes. This is usually caused by a dangerous heart rhythm that happens unexpectedly. 

While this risk is real, it is also rare. With early diagnosis, regular monitoring and the right care, many people with HCM live long and active lives. Doctors use risk assessments and, when needed, implantable defibrillators (ICDs) to help prevent sudden death.

Because HCM is inherited, it can run in families. If someone is diagnosed, close relatives including parents, siblings, and children should consider getting tested, even if they feel healthy. Early detection can make a significant difference in preventing serious complications.

Diagnosis and lifestyle management

HCM is diagnosed through a combination of tests: 

• Echocardiogram: uses ultrasound imaging to show the heart’s structure and function. 
• Electrocardiogram (ECG or EKG) or Holter monitor: measures the heart’s electrical activity. 
• Cardiac MRI: provides detailed images of the heart muscle, including signs of scarring. 
• Genetic testing: can identify changes in genes known to cause HCM, which is especially helpful for family screening.

Once diagnosed, lifestyle changes are important in staying healthy. Staying well hydrated, avoiding alcohol or recreational drugs that can affect the heart, and paying attention to symptoms such as chest pain, palpitations or fainting are all key. 

While intense or competitive sports may be restricted for some people, current guidelines support moderate, regular exercise like walking, swimming or biking when tailored to an individual’s risk and approved by their care team. Patients should stop activity if they feel chest pain, dizziness or an irregular heartbeat.

Genetic counseling can also be an important part of managing HCM. Counselors help patients understand the condition’s impact on their family, guide them through genetic testing, explain results and offer advice for next steps.

Treatment options for HCM

Treatment for HCM depends on the severity and type of the condition. 

Medications can help slow the heart rate, improve pumping efficiency, and reduce symptoms such as chest pain or shortness of breath. 

Procedures or surgery may also be considered. Alcohol septal ablation or septal myectomy can reduce the thickened part of the heart muscle. In higher risk patients, an implantable defibrillator (ICD) may be recommended to prevent dangerous heart rhythms.

Recent years have brought exciting breakthroughs, particularly medications for obstructive HCM, which is the type that blocks blood flow out of the heart. This medication works by reducing how forcefully the muscle contracts, making it easier for the heart to pump and relieving symptoms.

The HCM program at UK HealthCare

UK HealthCare’s dedicated Hypertrophic Cardiomyopathy Program, led by Dr. Sonu Abraham, offers specialized, team-based care for individuals and families affected by HCM. The program combines advanced imaging and diagnostics, access to genetic testing and counseling, state-of-the-art treatment options including alcohol septal ablation and mavacamten, and ongoing education and support for both patients and their loved ones.

At UK HealthCare, the focus is not just on treating HCM. The goal is to help every patient live a full, active and confident life.