Hypertrophic Cardiomyopathy Center and Research Institute

HCM Testing + Diagnosis

In order to determine if you have HCM and your optimal treatment plan, you will undergo some or all of the following testing during your visit to the Tufts HCM Institute. It’s important to remember, however, that one size does not fit all. What works for one patient might not work for another. As such, the tests and treatment you receive will be tailored to your individual medical needs.

Family screening for HCM at Tufts MC

Child smiling up at her mother Since HCM is a genetic disease, it can be transmitted to each consecutive generation in 50% of those relatives. Each family member has a 1 in 2 possibility of inheriting the disease. At Tufts, we recommend family screening to identify affected relatives and offer this option to any family with HCM. The HCM Center is a program that incorporates laboratory genetic analysis, contemporary imaging, and full clinical evaluation. Clinical studies include contemporary imaging for asymptomatic relatives with echocardiography and MRI, ECG and examination.

Genetic Testing

Since HCM is a genetic disease (autosomal dominant), it can be transmitted to each consecutive generation in 50% of the relatives. At Tufts Medical Center, we recommend clinical family screening to identify affected members and offer the services below to any patient with HCM. 

Commercial genetic testing is now readily available for the known gene mutations that cause HCM. Testing is performed by drawing blood from the patient and sending it to a lab for processing with results coming in 4-6 weeks. When patients have a known clinical diagnosis of HCM, currently only 30% present with a causative mutation. This is because not all mutations responsible for the disease are known. In the future, this genetic testing may expand if/when more mutations are found. It is important to realize that genetic testing does not predict the clinical course of the disease or the chosen treatment plan for a given patient. Rather, its value is in assessing family members in other generations to identify those who may be at risk for developing HCM in the future. During your visit we will discuss the clinical benefits of a screening strategy focused on genetic testing as well as any potential limitations from a cost, psychosocial, and insurance perspective.

Advanced imaging for HCM

The Imaging Center of the HCM Center, under the direction of Dr. Martin Maron, includes echocardiography, MRI and CT, and during the last decade has been at the forefront internationally by enhancing our understanding of the role, particularly of MRI, in understanding the morphology, diagnosis, and risk assessment of HCM. In particular, the Imaging Center has demonstrated that the extent of fibrosis in the left ventricle can predict which HCM patients are at risk for sudden death. 

Electrocardiogram (“ECG” or “EKG”)

An electrocardiogram is a test that checks for problems with the electrical activity of your heart. It does so by recording the electrical signals as they travel through your heart, capturing your heartbeat and heart rhythm into line tracings on paper. Abnormal EKG tracings are common in HCM patients.

Location: South Building, 5th Floor

An image of an echocardiogram taken at Tufts Medical Center's HCM Center in downtown Boston, MA.

Echocardiogram (or “Echo”)

Echocardiography has traditionally been the gold standard for diagnosing HCM. An echocardiogram is an ultrasound test in which a transducer is placed firmly against your skin aiming a sound beam through your chest to pick up “echoes” or images of heart muscle and valves. You will hear sound waves and see pictures of your heart on the monitor screen. The images of your heart are digitally recorded and saved electronically for our team to review, including:

  • Is your heart muscle thick?
  • Is your heart pumping normal?
  • Do you have obstruction of blood leaving the heart?
  • Are your heart valves leaking or restricted?
Location: Pratt Building, 4th Floor *Accessed via Proger Building, 3rd Floor

Stress “exercise” echocardiogram

An image of a cardiac stress test taken at Tufts Medical Center's HCM Center in downtown Boston, MA. If your normal echocardiogram shows a thickened heart muscle with no obstruction of blood flow at rest we will ask you to have an exercise echocardiogram. This will help us decipher whether you develop obstruction when your heart rate increases during physical activity. This is intended to mimic circumstances under which you may experience limiting symptom on a daily basis with activities such as walking up stairs or hills.  

In preparation, please do not eat or drink four hours before your test. We also recommend you do not take any heart medications that day as they may slow your heart rate and lead to a non-diagnostic result. We want to see how your heart functions without the influence of medications that could mask obstruction. Please wear comfortable, loose-fitting clothing and sneakers.

You will start by walking on the treadmill at a moderately slow pace. Every three minutes, the treadmill will increase in speed and tilt upward like a small hill. One of our doctors will be by your side the entire time, monitoring your blood pressure and EKG as you exercise.  Throughout the test, you will be asked if you are short of breath, have chest pain, or feel faint or dizzy. Once you reach your maximum level of exercise, you will lie on a nearby bed, on your left side, so the sonographer can take additional pictures your heart. 

Our team will then review both sets of your heart images—side by side—to compare the way your heart looks at rest and during exercise.

Location: Pratt Building, 4th Floor *Accessed via Proger Building, 3rd Floor

Cardiac MRI

The cardiac MRI–or magnetic resolution imaging—is a common test used to diagnose and assess many diseases and conditions, including heart disease. The MRI is part of our initial assessment for hypertrophic cardiomyopathy as it can provides better visualization of your heart muscle walls and leads to a more precise measurement of your heart muscle thickness, as well as telling us exactly where the maximal thickness is located.

An image of a cardiac MRI taken at Tufts Medical Center's HCM Center in downtown Boston, MA. This is a safe procedure. The images are made via radio waves that have no radiation or iodine IV contrast. However, patients with pacemakers or implanted defibrillators cannot undergo an MRI because the magnet may adversely alter the function of the device. Patients with titanium implants (such as hip or knee replacements and most prosthetic heart valves and heart stents) are approved for an MRI.

Before entering the MRI machine, you will need to be free of any metal objects. Our technician will then place a special set of cardiac coils over your chest. These coils act as a radio antenna to pick up the signals emitted from your heart. If you are claustrophobic, we recommend you take a mild sedative one hour prior to your MRI. We offer this to all patients and can provide you with a prescription in advance.

You will be positioned on a movable table that will slide into the scanner so your heart is positioned in the center of the imaging device.  Midway through the scan our technician will inject you with a chemical compound containing gadolinium (a contrast agent that is well tolerated by the human body and eliminated through the kidney). The gadolinium enhances the heart images and lights up any heart muscle scarring.  Gadolinium will not be given if you have severe kidney disease.

Your comfort is important to us. You will be given a head set to lessen the buzzing and chirping sounds made by the magnet as the radio waves generate the images. You may listen to music during the test.  The technician will talk to you via a two-way intercom system to see how you are doing throughout the exam. Please know you may take a break at any time. Expect to be in the scanner for 60 to 90 minutes.

The technician will at times ask you to hold your breath for 10 to 15 seconds while the pictures are being taken. It will also be important to lie still so as to prevent the pictures from being blurry. Most patients do well and have little discomfort.  

Location: Tufts Children's Hospital, Street Level

Ambulatory ECG monitoring

Zio Path is a wireless ambulatory heart monitor 

An ambulatory monitor is a small, wearable device that records your heart rhythm during normal day-to-day activities. It can be worn for various lengths of time ranging from 24 hours to several weeks and is slightly inconvenient as it is worn continuously. It detects any abnormal rhythms of the upper and lower chambers of your heart and therefore helps our team correlate symptoms of dizziness, palpitations (fast or irregular heart rhythms) or blackouts and evaluate for any potentially asymptomatic abnormal rhythms.