How Long Do People With Heterotaxy Syndrome Live?
Heterotaxy syndrome can affect organ arrangement and reduce life expectancy. Untreated heart conditions result in early death. Children without corrective heart surgery do not survive beyond the first year.
Advancements in medicine and technology, such as prenatal diagnosis and treatment, improve quality of life.
Life expectancy depends on condition severity. People with heterotaxy syndrome may survive up to 40 years with a mean life expectancy of 14 years.
What is heterotaxy syndrome?
Heterotaxy syndrome interferes with normal organ development. Organs are arranged abnormally, causing heart and organ problems.
Heterotaxy means different arrangements and describes abnormal organ arrangement. Incidence is 1 in every 10,000 live births. It may also develop later in life.
Heterotaxy syndrome has two types:
- Right atrial isomerism
- Includes heart abnormalities, lack of spleen, and misplaced organs.
- Heart defects include valve problems, septal abnormalities, and erratic blood flow.
- Left atrial isomerism
- Includes valve abnormalities, electrical system issues, and septal flaws.
- May cause heart block and result in missing or multiple small spleens.
Heterotaxy syndrome is characterized by:
- Asplenia syndrome
- Polysplenia
- Left-right patterning deficits
- Cardiovascular malformations
- Dextrocardia syndrome
- Atrioventricular septal defects
- Double outlet right ventricles
What are the symptoms of heterotaxy syndrome?
Symptoms vary depending on organ involvement and abnormality extent.
Problems associated with heterotaxy syndrome include:
- Abnormal positioning of organs and heart defects
- Abnormal blood vessels
- Heart symptoms including fast heart rate, fast breathing, and difficulty feeding
- Respiratory system problems such as difficulty breathing and frequent infections
- Digestive system problems such as abnormal intestines and difficulty feeding
- Spleen issues and immune symptoms
- Low oxygen levels and poor feeding
- Abnormalities of the urogenital system
What causes heterotaxy syndrome?
Abnormal organ development during embryonic development causes heterotaxy syndrome. Genetic and environmental factors may contribute.
Genetic factors:
- Heterotaxy syndrome is hereditary and caused by mutations in specific genes.
Environmental factors:
- Heterotaxy syndrome may be influenced by exposure to drugs or chemicals.
How is heterotaxy syndrome diagnosed?
Heterotaxy syndrome is diagnosed before birth using prenatal testing like ultrasound. After birth, diagnosis is based on physical examination and symptoms.
Tests used for diagnosis include:
- Echocardiogram
- Electrocardiogram
- Chest X-ray
- CT scan or MRI
- Abdominal ultrasound
- Genetic testing
What are the treatment options for heterotaxy syndrome?
Treatment depends on symptoms and abnormalities. Medications, surgery, and other therapies may be used.
Medications
Medications are given to treat symptoms and complications, especially involving the cardiac and respiratory systems.
Medications treat:
- Heart defects
- Arrhythmias
- Respiratory problems
Surgery
Surgery repairs heart defects and organ positioning abnormalities.
- Cardiac surgery
Other therapies
Physical and occupational therapy can treat symptoms and complications.
- Physical therapy
- Occupational therapy
It is important to remember that heterotaxy syndrome treatment may require a group of medical professionals and ongoing care.
