Cardiomyopathy and severe forms of EB

*author note..I understand these types of topics are tough to talk about.  It not something people want to think about and hope if they ignore it, the problem will go away.  I am not trying to make people feel uncomfortable.  I just want to get this information out there so EB families have the information and tools they need to make the best decisions they can for their health or for the health of their child.


There are many complications of severe forms of EB that can arise at any time.  One of them is called Cardiomyopathy- which is a disease that weakens and enlarges your heart muscle.

While I have no personal experience with this condition, I do have some friends with EB who have or had this complication and I have been reading up on it to learn more about what they are going thru.  Cardiomyopathy seems to be a silent, and in many cases, a deadly complication of EB.  In the past week I have discovered that many with EB have no idea this is a complication that could affect them, let alone know the symptoms of it. 

The three types of cardiomyopathy are:

Dilated cardiomyopathy. This is the most common type of cardiomyopathy. In this disorder, the pumping ability of your heart's main pumping chamber — the left ventricle — becomes less forceful. The left ventricle becomes enlarged (dilated) and can't effectively pump blood out of the heart. Although this type can affect people of all ages, it occurs most often in middle-aged people and is more likely to affect men. Some people with dilated cardiomyopathy have a family history of the condition.

Hypertrophic cardiomyopathy. This type involves abnormal growth or thickening of your heart muscle, particularly affecting the muscle of your heart's main pumping chamber. As thickening occurs, the heart tends to stiffen and the size of the pumping chamber may shrink, interfering with your heart's ability to deliver blood to your body. Hypertrophic cardiomyopathy can develop at any age, but the condition tends to be more severe if it becomes apparent during childhood. Most affected people have a family history of the disease, and some genetic mutations have been linked to hypertrophic cardiomyopathy.

Restrictive cardiomyopathy. The heart muscle in people with restrictive cardiomyopathy becomes rigid and less elastic, meaning the heart can't properly expand and fill with blood between heartbeats. While restrictive cardiomyopathy can occur at any age, it most often tends to affect older people. It's the least common type of cardiomyopathy and can occur for no known reason (idiopathic). The condition may also be caused by diseases elsewhere in the body that affect the heart.  

Per the Mayo Clinic's web site here are some symptoms of Cardiomyopathy

Some people who develop cardiomyopathy have no signs and symptoms during the early stages of the disease. But as the condition advances, signs and symptoms usually appear. Cardiomyopathy symptoms may include: 

            Breathlessness with exertion or even at rest

            Swelling of the legs, ankles and feet

            Bloating of the abdomen due to fluid buildup

           Fatigue

            Irregular heartbeats that feel rapid, pounding or fluttering

           Dizziness, lightheartedness and fainting

No matter what type of cardiomyopathy you have, signs and symptoms tend to get worse unless treated. In certain people, this worsening happens quickly, while in others, cardiomyopathy may not worsen for a long time.

During my research of articles about cardiomyopathy and EB, I found the following articles that I found to be very interesting and informative.  I hope that those with severe EB or have a child with severe EB will take time to educate themselves about this complication and talk with their doctors to determine their risks and what tests should be do to check for the issue. Being proactive is the best thing you can do when it comes to complications of EB! Especially for complications that can be silent until its too late. 

The Cardiomyopathy of Iron Deficiency

Anemia of Chronic Disease

The risk of cardiomyopathy in inherited epidermolysis bullosa

Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study

 

 

 

**NEW** A recent study linking EB and heart issues 

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