Barth syndrome (BTHS)

What is Barth syndrome (BTHS)?

This genetic syndrome is a rare, metabolic condition. There are 150 cases currently diagnosed worldwide, to date.

It affects mainly males, and most affected individuals have a reduced life expectancy as a result of the condition.

One of the main and most severe symptoms of this rare disease is an enlarged and weakened heart.

What gene changes cause Barth syndrome (BTHS)?

Mutations in the TAZ gene are responsible for causing the syndrome. It is an X-linked recessive disorder.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

What are the main symptoms of Barth syndrome (BTHS)?

One of the most serious symptoms of the syndrome is an enlarged and weakened heart. In most individuals this subsequently leads to heart failure.

Muscle weakness and issues with mobility are also serious symptoms of the syndrome. Individuals also report fatigue during or after physical exercise or exertion.

Individuals with the syndrome also present with reduced numbers of white blood cells which triggers more frequent infections.

A low birth weight and continued slow growth after birth are common, followed by the development of a short stature are all features of the syndrome.

How does someone get tested for Barth syndrome (BTHS)?

The initial testing for Barth syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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