How is heterotaxy syndrome diagnosed?

Heterotaxy is diagnosed in a number of different ways. It is often diagnosed before birth, when an ultrasound identifies an abnormal position of one or more organs. Sometimes, heterotaxy is diagnosed with a fetal echocardiogram (a special ultrasound of the heart before birth) when a complex heart defect is identified.

What is heterotaxy syndrome with polysplenia?

Heterotaxy syndrome with polysplenia is a congenital syndrome that is usually diagnosed in early childhood due to the manifestations of severe cardiac anomalies, which are often part of the syndrome, although cardiac anomalies are less common and complex in polysplenia than in asplenia.

What is the difference between Heterotaxy and situs inversus?

Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as “situs ambiguus.” Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.

How common is situs ambiguus?

Heterotaxy syndrome with atrial isomerism occurs in 1 out of every 10,000 live births and is associated with approximately 3% of congenital heart disease cases. Additional estimation of incidence and prevalence of isomerism proves difficult due to failure to diagnose and underestimation of the disease by clinicians.

Can you live with heterotaxy syndrome?

Survival for patients with heterotaxy syndrome was 83% over a median follow-up of 65 months.

Is heterotaxy syndrome a rare disease?

X-linked visceral heterotaxy is a rare genetic disorder characterized by various heart defects including the improper location of the heart on the right side of the chest (dextrocardia), complete reversal of the internal organs (situs inversus viscerum) so that they are the opposite side of the body than normal, and …

Is Heterotaxy a genetic disorder?

Heterotaxy may be caused by genetic changes ( mutations ), exposures to toxins while a woman is pregnant causing the baby to have heterotaxy, or the condition may occur sporadically. The condition is typically diagnosed through imaging such as an echocardiogram or an MRI .

Can you live with situs inversus?

In the absence of congenital heart defects, individuals with situs inversus are homeostatically normal, and can live standard healthy lives, without any complications related to their medical condition.

Can situs inversus harm you?

Because the organs can be functional in situs inversus, it’s possible for a person to have no complications. Other patients can experience cardiac dysfunction or a lung condition called primary ciliary dyskinesia (PCD), which causes mucus buildup in the lungs. This can lead to chronic bronchitis and sinusitis.

How long can you live with heterotaxy syndrome?

Life expectancy in heterotaxy syndrome infants is generally low, with one-year survival estimated at around 15 percent and 50 percent in right- and left-sided syndrome, respectively.

Is Heterotaxy inherited?

Changes ( mutations ) in over 60 genes have been associated with heterotaxy. These cases have been found to show several different pattern of inheritance, including autosomal dominant , autosomal recessive , or X-linked . Other cases of heterotaxy are not inherited from either parent.