What Is Barth Syndrome

Barth Syndrome is a rare genetic condition that affects a person’s health in various ways. In this article, we’ll break down everything you need to know about Barth Syndrome, using simple language to make it easy to understand.

Barth syndrome is a genetic condition that mainly affects males. Some of the symptoms of the condition include enlarged heart, low blood cell count, weakness of muscles, and fatigue. Additionally, there can be increased levels of chemicals like 3-methyglutaconic acid and 2-ethyl hydracrylic acid in the urine or blood. Barth syndrome is caused by changes (mutations) in the TAZ gene and has an X-linked inheritance pattern.

Types of Barth Syndrome:

1. Classic Barth Syndrome: This is the most common type of Barth Syndrome and is caused by a mutation in a specific gene called TAZ. It affects multiple organs in the body.

Causes of Barth Syndrome:

1. Genetic Mutation: Barth Syndrome is caused by a mutation in the TAZ gene. This mutation affects the production of a protein called tafazzin, which is essential for the normal functioning of mitochondria.
2. Inherited: Barth Syndrome is usually inherited from a person’s mother, who may carry the mutated TAZ gene.

Barth syndrome is caused by mutations in the TAZ gene. The TAZ gene produces a protein called tafazzin. Tafazzin helps in altering a fat called cardiolipin. Cardiolipin is present in the inner membrane of structures called mitochondria. Mitochondria are structures in the cell which helps in making energy. Loss of tafazzin protein mainly affects energy requiring organs like heart and skeletal muscles. However, more research is required to understand how the loss of tafazzin leads to cardiomyopathy and neutropenia.[rx]
Barth syndrome is inherited in an X-linked manner. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have an abnormal gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the abnormal gene. No females who are carriers for Barth syndrome have reported any symptoms.
Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains an abnormal gene, he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder can reproduce, he will pass the non-working gene to all his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.[rx]

Symptoms of Barth Syndrome:

1. Weak Muscles: People with Barth Syndrome often have weak muscles, making it difficult for them to perform physical activities.
2. Cardiac Issues: Heart problems are common in Barth Syndrome, including cardiomyopathy and arrhythmias.
3. Fatigue: Individuals with Barth Syndrome may experience extreme tiredness and fatigue.
4. Growth Delay: Some may experience delays in growth and development.
5. Infections: Frequent infections, especially respiratory infections, can occur.
6. Low Immunity: A weakened immune system can make it easier to get sick.
7. Feeding Problems: Infants with Barth Syndrome may have difficulty feeding and gaining weight.
8. Skeletal Abnormalities: Joint and bone problems may be present.
9. Neutropenia: A low count of a type of white blood cell called neutrophils can lead to increased susceptibility to infections.
10. Difficulty Breathing: Some individuals may experience breathing difficulties.
11. Exercise Intolerance: Physical activity may be challenging due to muscle weakness.
12. Enlarged Heart: The heart can become enlarged, which can lead to further complications.
13. Liver Issues: Liver problems may also occur in some cases.
14. Speech Delay: Children with Barth Syndrome may experience delays in speech development.
15. Learning Disabilities: Learning difficulties can be present.
16. Vision Problems: Some individuals may have vision issues.
17. Low Energy Levels: Constant low energy levels are a common symptom.
18. Mild Intellectual Disability: In some cases, there may be mild intellectual disabilities.
19. Coordination Problems: Difficulty with coordination and balance can be observed.
20. Difficulty Swallowing: Swallowing difficulties may occur, particularly in infants.

Males with Barth syndrome could have various heart problems like dilated cardiomyopathy, hypertrophic cardiomyopathy, endocardial fibroelastosis and left ventricular non-compaction. Dilated cardiomyopathy is when the left ventricle muscle becomes enlarged and weak which decreases the heart’s ability to pump blood. In some people with Barth syndrome, the heart muscles become very thick making it difficult to pump blood (hypertrophic cardiomyopathy). Sometimes, this thickening may be due to the build-up of connective tissues and elastin fibres (endocardial fibroelastosis). In other patients, the left ventricles do not develop properly (left ventricular noncompaction) so instead of the muscle being smooth, it becomes thick and spongy making it difficult to pump blood. These heart findings are almost always present before the age of 5. Sometimes the heart problems can be seen on an ultrasound exam in the last trimester in pregnancy. In addition to structural differences to the heart, in some adolescents and young adults, there could be an irregular heartbeat identified (arrhythmia). The heart problems might lead to decrease in blood circulation from in the body and to the lungs (heart failure). Symptoms of heart failure may include shortness of breath, tiredness and nausea, but the symptoms depend on the child and other factors.[rx]

Diagnostic Tests for Barth Syndrome:

1. Genetic Testing: A blood test can identify the mutation in the TAZ gene that causes Barth Syndrome.
2. Muscle Biopsy: A small piece of muscle tissue is taken for examination to look for abnormal mitochondria.
3. Echocardiogram: This ultrasound of the heart can show any heart abnormalities.
4. Blood Tests: Blood tests can detect low levels of neutrophils and other abnormalities.
5. Electrocardiogram (ECG): This test records the heart’s electrical activity and can reveal arrhythmias.
6. Imaging: X-rays and other imaging tests may be done to check for bone and joint issues.
7. Physical Examination: A thorough physical exam by a healthcare professional can help identify various symptoms.
8. Developmental Assessment: This assesses growth and developmental delays in children.
9. Speech and Language Evaluation: To assess speech and language delays.
10. Vision Tests: To check for vision problems.

Diagnosis is based upon clinical evaluation, identification of characteristic physical findings, a complete patient and family history, and a variety of specialized tests.
Consider Barth syndrome if someone has:

• Heart findings like dilated cardiomyopathy, hypertrophic cardiomyopathy and noncompaction of left ventricle
• Increased levels of 3-methylglutaconic acid in blood and/or urine
• Neutropenia
• Hypotonia
• Growth delay
• Characteristic facial features.

Multiple pregnancy losses involving a male fetus have been observed in some families with Barth syndrome.

Molecular genetic testing for mutations in the TAZ gene confirms the diagnosis of Barth syndrome. The TAZ gene testing can be done individually or as a part of a multigene panel.[rx]

Treatments for Barth Syndrome:

The treatment of Barth syndrome is for specific symptoms. Such treatments may need the efforts of a team of medical professionals, such as pediatricians; physicians who specialize in childhood heart disease (pediatric cardiologists); specialists in the study of the blood and blood-forming tissues (hematologists); specialists in the treatment of bacterial infections, physical therapists; occupational therapists; and/or other health care professionals.[rx]

Heart failure and/or bacterial infections are the threats to a patient with Barth syndrome. This is one of the main reasons for a reduced life expectancy. Standard heart failure medications like beta blockers, ACE inhibitors and digoxin are used. This helps in improving the heart function and reduces symptoms of heart failure. Aspirin is used for reducing clot formation. Heart transplant is considered when there is severe heart failure. The heart functioning tends to improve after infancy, so heart transplant should be carefully considered.[rx]

1. Medications: Depending on the specific symptoms, medications may be prescribed to manage heart problems, infections, or other issues.
2. Physical Therapy: Physical therapy can help improve muscle strength and coordination.
3. Occupational Therapy: Occupational therapy can aid in developing daily life skills.
4. Speech Therapy: Speech therapy can help with speech and language delays.
5. Nutritional Support: Infants with feeding difficulties may require special formulas or feeding tubes.
6. Surgical Interventions: In severe cases, surgery may be needed to address heart or bone issues.
7. Cardiac Monitoring: Regular monitoring of heart function is essential.
8. Immunizations: Keeping up with vaccinations to prevent infections is crucial.
9. Psychological Support: Families and individuals may benefit from counseling and support groups.
10. Education and Special Services: Children with Barth Syndrome may need special education services to address learning disabilities.
11. Adaptive Equipment: Depending on the severity of symptoms, adaptive equipment like wheelchairs or braces may be necessary.

Medications for Barth Syndrome:

1. Coenzyme Q10 (CoQ10): This supplement can support heart health and improve energy production.
2. Antibiotics: To treat and prevent infections.
3. Anti-arrhythmia Medications: To manage heart rhythm problems.
4. Growth Hormone: For growth delays in children.
5. Pain Medications: To alleviate any discomfort or pain.
6. Immunoglobulin Therapy: To boost the immune system.
7. Speech Medications: Medications may be used to improve speech and language skills.
8. Heart Medications: Various medications can help manage heart conditions.
9. Bone Health Supplements: To support skeletal health.
10. Anti-fatigue Medications: In some cases, medications may help combat fatigue.

In conclusion, Barth Syndrome is a complex genetic condition that can affect multiple aspects of a person’s health. It is crucial to diagnose and manage it early to provide the best possible quality of life. With the right treatments, therapies, and support, individuals with Barth Syndrome can lead fulfilling lives despite its challenges. If you suspect that you or your child may have Barth Syndrome, it’s essential to seek

 

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. Thank you for giving your valuable time to read the article.