How is Ivemark syndrome diagnosed?

Ivemark syndrome can be detected before birth through a fetal ultrasound, a test that uses high-frequency sound waves to create a picture of a developing fetus. A fetal ultrasound can detect specific abnormalities associated with Ivemark syndrome including the lack of a spleen and the presence of heart defects.

How long can you live with heterotaxy?

Survival for patients with heterotaxy syndrome was 83% over a median follow-up of 65 months. Thirty-four per cent of patients had a poor outcome.

What is polysplenia syndrome?

Polysplenia syndrome refers to the association of 2 or more multiple spleens with multiple congenital abnormalities in abdomen and chest. However, some cases of polysplenia syndrome have been described with a single bilobed spleen or a single normal splenic gland.

What are the symptoms of Heterotaxy?

What are the symptoms of heterotaxy?

  • cyanosis ( blue skin, usually on the lips and under the fingernails)
  • labored or fast breathing.
  • abnormally slow or fast heart rate.
  • difficulty feeding.
  • poor weight gain.

Is Ivemark syndrome a disease?

Disease at a Glance Ivemark syndrome is a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder.

How common is Alagille syndrome?

The incidence of Alagille syndrome has been estimated to be approximately 1 in 30,000-45,000 individuals in the general population.

What is cardiac heterotaxy?

Heterotaxy describes an abnormal arrangement of visceral organs in the thoracic and abdominal cavities across the normal left–right axis of the body. 1,2. It is a nonspecific term that encompasses several different arrangements of cardiac chambers, great vessels, and extracardiac organs.

What is heterotaxy?

Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. The beginning of the word (hetero-) means “different” and the end (–taxy) means “arrangement.” There are different forms of heterotaxy syndrome. All usually involve heart defects of varying types and severity.

Can you live with polysplenia?

Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment [1]. The majority of patients with polysplenia syndrome die by age of 5 years.

What causes polysplenia?

The exact cause of polysplenia has not been defined. The probable hypotheses are embryonic (accelerated curvature of the embryonic body), genetic causes and teratogenic factors [7]. There is slight female preponderance and rare familial association has also been found [7].

How is heterotaxy syndrome diagnosed?

Anatomy ultrasound – A high-resolution ultrasound to confirm the diagnosis and find other problems with the organs. Fetal MRI – Non-invasive imaging to get clear pictures of the affected organs. Fetal echocardiogram – A special ultrasound to look at the way the baby’s heart is made and works.

How is heterotaxy inherited?

When heterotaxy syndrome runs in families, it can have an autosomal dominant , autosomal recessive , or X-linked pattern of inheritance, depending on which gene is involved. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.