Cardiomyopathy (disease of the heart muscle)

What is Cardiomyopathy (disease of the heart muscle)?

It is a myocardial (the muscle of the heart) abnormality. It affects the structure and function of the heart muscle, which is identified as abnormal. It is diagnosed when there is no evidence of coronary artery disease, hypertension, valvular disease or congenital heart disease as a cause of it. It is a stand alone health condition by that definition.

Understanding heart-related symptoms and features

Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.

The heart is a part of the cardiovascular system of the body, also known as the circulatory system. It includes not only the heart but the veins, arteries, capillaries and blood which make the system work. The cardiovascular system distributes essential nutrients as well as oxygen, carbon dioxide, hormones and blood cells around the body in order to ensure its growth and survival.

Symptoms affecting the heart may be congenital, present at birth, or they may develop later in life. Often they will require surgery to correct them.

Symptoms relating to the heart may affect the structure of this crucial organ, and/or its function. They may also affect any of the other parts of the cardiovascular system, including the veins and arteries.

What should I do next?

In some instances, disease of the heart muscle may be one of the features of a rare disease or genetic syndrome. To find out if someone with Cardiomyopathy, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.