Cardiomyopathy – Diagnosis and Treatment
Diagnosis
Key Ways Doctors Test for Cardiomyopathy
Doctors use different methods to figure out if someone has cardiomyopathy. The process usually starts with a careful conversation about a person’s symptoms.
They may ask if symptoms like shortness of breath, chest pain, fainting, or palpitations occur more when being active or at rest.
Family history is important, especially because conditions like hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), and left ventricular non-compaction cardiomyopathy (LVNC) can sometimes run in families.
List of Typical Symptoms Doctors Ask About:
- Unexplained shortness of breath
- Chest pain or discomfort
- Fainting spells
- Irregular heartbeats or palpitations
- Swelling in legs or abdomen
A doctor will also look for signs that might point to specific types, like peripartum cardiomyopathy in women who have recently given birth, or ischemic cardiomyopathy in those with a history of heart disease.
Methods and Tools Used for Evaluation
Special tests help doctors see how the heart is working. Doctors choose tests based on symptoms, family history, and the likely type of cardiomyopathy.
| Test Name | Purpose |
|---|---|
| Blood tests | Check organ function and heart failure protein (BNP level). |
| Chest X-ray | Assess heart size and spot fluid in the lungs. |
| Echocardiogram (Echo) | Show heart shape, size, valve function, and blood flow. |
| Electrocardiogram (ECG/EKG) | Record heart rhythm and electrical activity. |
| Exercise (Stress) Test | Observe heart performance during physical activity. |
| Cardiac catheterization/angiogram | Measure pressures, find blockages, and possibly get tissue samples. |
| Cardiac MRI | Give detailed images if echo is unclear |
| Cardiac CT scan | Provide more views of the heart and spot calcium/blockages. |
| Genetic testing | Identify inherited forms, suggest screening for relatives. |
Blood Checks: Providers test for iron levels and how well organs like kidneys, liver, and thyroid are working. A higher B-type natriuretic peptide (BNP) level may be a sign of heart failure linked to cardiomyopathy.
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Heart Imaging:
- Chest X-rays show if the heart looks bigger than usual and if there is fluid in the lungs.
- Echocardiograms use sound waves to show real-time images of the heart, which helps spot thickened or enlarged muscle (as in HCM or DCM) or pumping problems.
- Cardiac MRI and Cardiac CT scans create clear pictures of the heart’s shape, structure, and blood vessels. MRI helps when an echocardiogram isn’t enough, and CT helps find blockages or calcium.
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Heart Rhythm and Stress Testing:
- Electrocardiogram (ECG/EKG) records how fast and steady the heart beats. It picks up signs of arrhythmias, left ventricular hypertrophy, or patterns found in arrhythmogenic right ventricular cardiomyopathy (ARVC).
- Stress tests show how the heart works when pushed—by exercise or medicine—to look for hidden symptoms, chest pain, or silent changes.
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Invasive Tests:
- Cardiac catheterization allows doctors to check blood flow, pressures in the heart, and to inject dye to view vessels (angiogram). Sometimes doctors take a small tissue piece through a biopsy to help diagnose myocarditis or rare cardiomyopathies.
- Genetic Screening: Since several types of cardiomyopathy are inherited, genetic screening is useful. If a genetic form is found, close family members may also get tested to see if they are at risk.
Doctors may use a mix of these tests to get a full picture. The right combination depends on the individual’s symptoms, suspected diagnosis, and family background.
Treatment
Medications
Medicines play a key role in treating cardiomyopathy. They manage symptoms, lower blood pressure, encourage better blood flow, and support the heart muscle as it pumps.
Some common medicines include:
- Beta Blockers: These slow the heart rate, ease the heart’s workload, and help prevent abnormal heart rhythms (arrhythmias).
- ACE Inhibitors: Angiotensin-converting enzyme inhibitors open blood vessels, lower blood pressure, and improve heart function.
- Angiotensin Receptor Blockers (ARBs): Like ACE inhibitors, ARBs relax blood vessels and ease strain on the heart.
- Angiotensin Receptor-Neprilysin Inhibitors (ARNIs): This type of medicine helps those with heart failure by relaxing blood vessels and improving blood flow.
- Diuretics: Sometimes called “water pills,” these remove extra fluid and sodium from the body, reducing swelling and the burden on the heart.
- Anticoagulants (Blood Thinners): Used to prevent blood clots, which can be a risk in people with some forms of cardiomyopathy.
Doctors select medicines based on the cause and symptoms. Often, a person will take more than one medicine at a time.
Nonsurgical Treatments and Procedures
Some people benefit from therapies that do not require open-heart surgery. These treatments target specific issues caused by cardiomyopathy, including abnormal heart rhythms and thickened heart muscle.
Septal ablation targets areas where the heart muscle has grown too thick, which is common in hypertrophic cardiomyopathy.
A thin tube called a catheter is threaded into the heart, and a small amount of alcohol is sent through to shrink the extra muscle. This can improve how blood flows through the heart and reduce symptoms.
Catheter ablation uses thin wires with sensors that doctors move into the heart through blood vessels. The tips use heat or cold energy to make small scars in problem areas.
These scars block the abnormal pathways that can cause irregular heart rhythms (arrhythmias). Both of these procedures can be effective when medicines alone are not enough to treat symptoms.
Surgical and Device-Based Interventions
When medicine and less invasive therapies do not succeed, some people may need surgery or devices to support heart function and manage complications.
Table: Common Surgical and Device Options
| Intervention | Purpose |
|---|---|
| Ventricular assist device (VAD) | Pumps blood from lower heart chambers to the body, often used when other treatments do not work. |
| Pacemaker | Controls and stabilizes the heartbeat by sending electrical pulses to the heart. |
| Cardiac resynchronization therapy (CRT) device | Helps the heart’s chambers contract in a more organized way and is helpful for those with dilated cardiomyopathy and ongoing symptoms. |
| Implantable cardioverter-defibrillator (ICD) | Monitors heart rhythm and sends electric shocks if life-threatening rhythms are detected, reducing the risk of sudden cardiac arrest. |
| Septal myectomy | A type of open-heart surgery. Removes part of the thickened septum to improve blood flow and reduce heart valve problems. |
| Heart transplant | Replaces a failing heart with a healthy donor heart, used for end-stage heart failure when other treatments do not work. |
Implantable devices, such as the ICD, protect people at high risk of sudden cardiac death. The device monitors the heart and reacts if it detects dangerous arrhythmias.
Pacemakers and CRT devices help the heart beat in a more regular, efficient way. They are especially useful for people with certain types of heart failure, including those with a blockage in the heart’s electrical system.
A VAD can offer support while someone waits for a heart transplant or can be used as a long-term option when other treatments no longer control symptoms.
Surgical options like septal myectomy relieve narrowing in the heart and improve symptoms when muscle overgrowth is a problem. In the most severe cases, heart transplant may be the best path forward.
Everyday Actions and Helpful Tips
Taking care of daily habits can make a difference for those living with cardiomyopathy.
Avoiding tobacco and controlling alcohol use are both important, as alcohol and smoking can harm the heart. Limiting alcohol, especially for people with a history of alcoholism, is recommended.
Eating choices also matter. Try to eat more fruits, vegetables, and whole grains. Use less salt, aiming for less than 1,500 mg a day, since high sodium can worsen high blood pressure.
Regular exercise, as advised by a healthcare provider, supports heart health. Managing stress, getting enough rest, taking medicine as prescribed, and having routine checkups can all play a role in staying healthier.
Getting Ready for Your Visit
Steps You Can Take Before Your Appointment
Check for Instructions: Some screening services or Stanford cardiomyopathy specialists may ask patients to avoid eating, drinking, or taking certain medications before their visit. Ask if there are any special steps you should follow.
Write Down Symptoms: Make a clear list of all symptoms, including any that do not seem related to the heart. Note when they started.
Family Medical Details: Record any family history of cardiomyopathy, heart disease, stroke, diabetes, or high blood pressure. Pay attention to any big changes or major stress in your life.
List Medications and Supplements: Note all medications, vitamins, and supplements you use. Be sure to include the dose for each one.
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Prepare Questions: Bring a list of questions for your healthcare team. Here are some examples:
- What could be causing these symptoms?
- Are there other possible reasons for what I’m experiencing?
- What tests will I need?
- What treatment options do you recommend?
- How often should screenings take place?
- Should my family also be checked for cardiomyopathy?
- How do I manage other conditions along with this?
Bring support: If possible, have a family member or friend come with you. They can help remember what the doctor says.
Questions Your Healthcare Team May Ask
Doctors or specialists ask questions to better understand your health. They may ask:
- Are your symptoms constant, or do they come and go?
- How intense or bothersome are your symptoms?
- What helps you feel better?
- What makes your symptoms get worse?
Think about your answers before the appointment and bring any records or test results from previous screening services, especially if you have seen Stanford cardiomyopathy specialists or other experts.
