Hypertrophic Cardiomyopathy

Diagnosis

At Mayo Clinic, specialists in cardiovascular diseases, cardiac surgery, genetics and other medical areas work together as an integrated team to accurately diagnose patients with hypertrophic cardiomyopathy, a rare disease. Cardiologists at Mayo Clinic have expertise and experience diagnosing the condition. Mayo Clinic offers the most advanced testing available:

History and Physical Exam
Initially, the physician asks many questions about the patient's history, including symptoms, prior tests and family history. The physician will then examine the heart, looking for evidence of obstruction or valve leakage.

Blood Tests
Blood tests can be used to check for specific gene mutations. Significant research in molecular genetics is under way at Mayo Clinic. A dedicated program seeks to identify gene mutations that may occur in people with hypertrophic cardiomyopathy.

Hundreds of mutations have been uncovered in several genes, and researchers are studying how specific mutations may affect the course of the disease. Because research is advancing rapidly, blood is stored so that further analysis can be done as new discoveries are made. This research may have future implications for relatives of people with hypertrophic cardiomyopathy.

Read more about hypertrophic cardiomyopathy research at Mayo Clinic.

Chest X-rays
Chest X-rays show the heart's size and position.

Magnetic Resonance Imaging (MRI) Scan
A MRI scans the body using magnetic fields to create computer images of the body's soft tissues.

Echocardiograms
An echocardiogram is a noninvasive imaging test that uses sound waves to allow the physician to observe the beating heart. It measures muscle thickness, degree of obstruction, chamber size, valve movement and blood flow. The test also determines pressures inside the heart chambers and major vessels. Medications that change the pressures inside the heart may be given during the test. These medications allow the physician to observe the change in the degree of obstruction when the heart is stressed.

Electrocardiograms (ECG) and Holter Monitor
Electrocardiograms and Holter monitors produce graphic records of the electrical activity that generates the heartbeat. A 12-lead electrocardiogram provides information about heart rhythm and, indirectly, about the size of the heart. A Holter monitor is worn for 24 to 72 hours to record heart rhythm. In hypertrophic cardiomyopathy, irregular heart rhythms called arrhythmias are common. Some specific arrhythmias may predict future heart problems.

Exercise Test
Exercise tests can be conducted, depending on the information needed. An exercise test helps determine activity tolerance and also can screen for arrhythmias. The change in blood pressure during exercise also has implications for an individual's prognosis.

In an oxygen consumption test, the patient is asked to exercise while breathing into a mask, to measure how much oxygen the body uses.

In a thallium scan, a harmless radioactive solution is injected into a vein during exercise, and a camera is used to view blood flow to the heart muscle.

An echocardiogram can be performed immediately after exercise to understand better the obstruction's severity under stress.

Heart Catheterization
Heart catheterization is an invasive procedure conducted in the hospital, usually as an outpatient procedure. Mayo Clinic is an international leader in catheter-based procedures. The catheterization laboratory staff at Mayo Clinic has access to state-of-the art technology for diagnostic testing of hypertrophic cardiomyopathy and other heart conditions. In heart catheterization, thin flexible catheters are inserted through a peripheral artery in the groin area and threaded into the chambers of the heart. The catheters measure pressures inside the heart, deliver medications to the heart, and directly deliver dye into the heart chambers and vessels. The dye can be seen with X-ray imaging (angiogram) as it moves through the heart and vessels. Any blockages in the arteries can become evident.

Heart catheterization is also used to determine the heart's response to a temporary pacemaker. Patients may feel a small amount of pain from injection of the numbing medication given at the start of the procedure. The patient is required to lie flat for several hours after the procedure to prevent bleeding from the puncture site.