Learn About the Cause of Barth Syndrome (Cardio-skeletal Myopathy)

The Barth Syndrome also has another name Cardio-skeletal Myopathy, known as Barth Type. This genetic disorder is rare. Even though the woman is the carrier Barth Syndrome only affects the male sex. The mother will have no symptoms.

There is a 50% chance if a boy is born to have Bart Syndrome. It is passed by the X chromosome to the son from the mother.

However the age of onset of this syndrome is unknown. The main symptoms are when the heart and muscles (Cardio-skeletal Myopathy) start to show irregularities. These are the two dominant indications of the disorder. Heart failure can be caused when the left ventricle has an increase in thickness. The cause of this is from high levels of absorption of elastic (collagenous fibers). When the ventricle becomes thick it decreases the blood flow to the lungs. Therefore the decrease in flow increases the chance of heart failure. Other affects are a delay in growth or may cause shortness in growth. Also there is more of a chance of bacterial infections from a low white blood count.

There have been some boys that show some signs within a few months after birth. These symptoms are from the muscle and heart. The cardio-myopathy when enlarged will cause hard breathing. Also a reduced hunger which means weight gain may slow. With skeletal-myopathy there will be tiredness and muscle deficiency.

Many boys with Barth Syndrome will have only one or two of the characteristics. Many have all of these components. But with having only one or two symptoms they are sometimes misdiagnosed.

Tafazzin is the gene for Barth Syndrome. This gene has an alteration that affects an enzyme. The alteration causes a decline in the creation of this enzyme. However, this enzyme helps in preventing or fighting bacterial infections.

This disorder does not corporate in any one group. Barth Syndrome can appear in any race or background. It is not positive how many males are born each year with the syndrome. But it is believed that in the US there are less than 10 born a year. When a male with Barth syndrome has female children they will carry it.

Barth Syndrome has no particular procedure for care. However treatment can be applied to each symptom and be strongly managed. But by puberty the heart and short stature often is completely under control.