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Barth syndrome is an X-linked condition usually transmitted from

mom to son. Cardiolipin is lipid that is important in energy

metabolism. BTHS (Barth syndrome), affects multiple body systems. Its

main defects often include combinations in different kinds of degrees of

cardiomyopathy (a disorder of the heart muscle leading to a poorly

functioning heart), neutropenia (a reduction in the number of white

blood cells which may direct to an increased risk for bacterial

infections), hypotonia (reduced muscle tone), muscle weakness, not

fully formed skeletal muscles, delayed growth, lack of stamina, varying

degrees of physical disability. Although some with BTHS may have all of

these characteristics, others may have only one or two, therefore, are

often misdiagnosed.

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The gene that is affected for Barth syndrome, tafazzin is located on the

long arm of the X chromosome (Xq28). Mutations in the tafazzin gene

lead to decreased production of an enzyme required for the

combination of Cardiolipin, a speciallipid that is important in

energy metabolism. One way doctors tell you have Barth syndrome is

when you are delayed in growth. Another way is when they develop

with growth retardation or if they have an oversized heart.

Some symptoms are:

Cardiomyopathy- A weak heart muscle usually associated withenlargement of the heart

Neutropenia-A reduction in neutrophils, a type of white bloodcell that is most importantly used for fighting bacterial infections

Underdeveloped skeletal Musculature and muscle weakness Growth delay Exercise intolerance Hypotonia- low muscle tone Dilated cardiomyopathy- labored breathing, poor appetite,

and/or slow weight gain

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Severe infections and cardiac failure are common causes of death in

children that are affected with Barth syndrome. Kids with Barth

syndrome end up with growth retardation.

There isnt a specific treatment for Barth syndrome, but each of the

individual problems can be successfully controlled, and short height

often resolves after puberty. Bacterial infections caused by

neutropenia can be in effect treated with antibiotics. Medicines may be

given to control heart problems. The dietary supplement carnitine has

aided some children with Barth syndrome but in others it has caused

mounting muscle weakness.

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Cynthia Molina

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Personal essay

After researching about Barth syndrome I have

learned to understand the families that have to go

through their kids being affected with Barth syndrome.

There are many awful things that kids with BTHS

syndrome have to go through; therefore I really dont

wish anyone to go through that. If my brother had thisdisease my life would completely change because I do

almost everything with my brother. Ever since we were

small we played together all day. We had the greatest

adventures because we werent afraid of getting hurt or

in trouble. But if my brother had Barth syndrome he

wouldnt be capable of running or climbing trees like we

used too. I think it would change also my life completely

because my brother is like my partner in crime because

if one of us got in trouble then we both got in trouble.

Right now my brother plays all kinds of sports including

baseball, basketball, and even soccer. But having Barth

syndrome it is difficult to at least run so my brother

wouldnt be doing all those things he is doing now. I

thank God for having my brother and I healthy and

normal because many people out there have families that

are affected with Barth syndrome and they cantdo the

things my brother can do.