Diagnosis

Hello friends,

We heard this week from the pathologist a final diagnosis for Christianna.  She had "Hypertrophic Cardiomyopathy".  Cardio = heart, myo = muscle,  pathy = disease, and hyper = large,  So this is basically a disease of the heart muscle cells that causes them to enlarge, be in disarray and not function properly.  It is caused by a genetic mutation, and often develops in the pre-pubertal stage.  

If you have heard of a young healthy athlete suddenly dying, this is most often what has caused it.  Among people who die suddenly from this disease, most have no or only mild symptoms, and many times it is not related to physical activity at the time of death.  

The cause of sudden death at an early age is usually due to an arrhythmia, or a life threatening heart rhythm, as was the case with Christianna, because the heart cells are not aligned/functioning well, especially around the area of the electrical conduction system in the heart.  

It is usually an inherited, or genetic disease, so although we have no one in either family with known sudden early death, our immediate family will be screened with a heart ultrasound, or echocardiogram.  

By the way, the news had reported she had a thickened heart valve, which was not the case.  Her valves were normal, but her heart in general was enlarged.  

Here is some more information from the Mayo clinic site:

"Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle (myocardium) becomes abnormally thick — or hypertrophied. This thickened heart muscle can make it harder for the heart to pump blood. Hypertrophic cardiomyopathy may also affect the heart's electrical system.

Hypertrophic cardiomyopathy often goes undiagnosed, because many of those with hypertrophic cardiomyopathy have few, if any, symptoms. In a small number of people with this condition, the thickened heart muscle can cause signs and symptoms, such as shortness of breath and problems in the heart's electrical system resulting in life-threatening abnormal heart rhythms (arrhythmias).

Hypertrophic cardiomyopathy is usually caused by gene mutations. It's thought these mutations cause the heart muscle to grow abnormally thick. People with hypertrophic cardiomyopathy also have an abnormal arrangement of heart muscle fibers. The heart muscle cells become jumbled, known as myofiber disarray. This disarray can contribute to an irregular heartbeat (arrhythmia) in some people."

Thank you for your continued prayers as we seek the Lord, are thankful for His faithfulness to us, and so deeply resonate with Ms. Hawks who wrote: " I need thee every hour, most gracious Lord.  No tender voice like thine, can peace afford."

much love from our family,

Christa