Genetic evaluation is becoming an important part of personalized care, as many health conditions have a genetic basis and genetic test results can help to guide medical decisions. Our genetic counselors provide consultations related to cancer genetics, cardiovascular genetics and prenatal genetics.
What is cardiomyopathy?
Cardiomyopathy refers to an abnormality or disease of the heart muscle in which the muscle becomes enlarged, thick or hardened. As a result, the heart muscle weakens and has difficulty pumping blood properly and maintaining normal heart rhythm. This weakening can eventually lead to heart failure or arrhythmia.
Types of cardiomyopathy
There are different types, including:
- Arrhythmogenic right ventricular dysplasia – rare hardening of the right ventricle (heart chamber), leading to rhythm problems
- Dilated cardiomyopathy – when the left ventricle becomes enlarged and is unable to pump effectively
- Hypertrophic cardiomyopathy – when the heart muscle thickens, affecting left ventricle function
- Restrictive cardiomyopathy – when the heart muscle becomes rigid, preventing the heart from filling with and pumping blood between beats
- Unclassified cardiomyopathy – other types that don't fall into the main categories
Cardiomyopathy can be genetic, something you've inherited, or it can be acquired, meaning it has happened as a result of another condition you may have.
In some cases, there are no symptoms so you may not know you have it. In other cases, there is rapid onset of severe symptoms that can be life-threatening.
Symptoms of cardiomyopathy
Symptoms may include:
- Shortness of breath
- Chest pain
- Swelling of feet, ankles, legs
- Abdominal bloating
Diagnosis and testing for cardiomyopathy
In order to diagnose your condition, your doctor will perform a physical exam and review of your medical history. Testing such as a blood test, chest X-ray, EKG, Holter monitoring, echocardiogram, or stress testing may be needed. Depending on the results of the tests, additional diagnostic procedures may be recommended, such as cardiac catheterization or coronary angiography.