Barth syndrome (BTHS)

Barth Syndrome_ BTHS OMIM #302060
* This composite image of Barth Syndrome (BTHS) was created to help geneticists get a better analysis

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.

This syndrome is also known as:
3-methylglutaconic aciduria Type II; MGCA2 Barth syndrome BTHS; Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria; Endocardial Fibroelastosis Familial primary; Endocardial fibroelastosis MGA, Type II; Mga2 X-linked endocardial fibrosis X-linked variety of endocardial fibroelastosis.

What gene change causes Barth syndrome (BTHS)?

Mutations in the TAFAZZIN 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 short stature are all features of the syndrome.

Possible clinical traits/features:
Abnormality of neutrophils, Abnormality of the musculature, Abnormal endocardium morphology, X-linked recessive inheritance, Skeletal myopathy, Abnormal mitochondrial morphology, Recurrent infections in infancy and early childhood, Round face, Fatigue, Talipes equinovarus, Gait disturbance, Full cheeks, Granulocytopenia, Growth delay, Hypertrophic cardiomyopathy, Arrhythmia, 3-Methylglutaconic aciduria, Myopathic facies, Mandibular prognathia, Intermittent lactic acidemia, Neutropenia, Macrotia, Dilated cardiomyopathy, Congestive heart failure, Motor delay, Endocardial fibroelastosis, Deeply set eye, Exercise intolerance, Failure to thrive.

How is Barth syndrome (BTHS) diagnosed?

To find out if someone has a diagnosis of Barth syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Barth Syndrome_ BTHS OMIM #302060
* This composite image of Barth Syndrome (BTHS) was created to help geneticists get a better analysis

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more