Out of all rare conditions out there, heterotaxy is a condition which one might have trouble diagnosing, in case there are no severe complications. Basically, patients suffering from this condition have their organs inversely placed inside their body to some extent. If all of the organs are mirrored, condition usually goes unrecognized until some regular physical check, but if the condition affects some of the organs, some serious difficulties might arise. The exact cause of this condition is yet to be determined. So far it’s clear that it is caused by a specific gene mutation and based on some of the most recent studies it is not hereditary. Let’s take a closer look at condition known as heterotaxy syndrome, covering its symptoms, diagnosis, treatment and prognosis.
Are there any symptoms of organs being mirrored?
Since it’s such a rare condition (approximately 5 out of a million people are affected), determining symptoms is quite a task. So far it’s been easiest to diagnose this condition after birth since the baby shows some odd symptoms. First of all, it’s common for babies affected with this condition to have issues with feeding and weight gain, combined by a blue tone to the skin and lips. This is caused by the heart being on the opposite side, which may cause a problem in blood pressure, depending of the severity of the mirroring effect. It’s interesting to note that in all recorded cases heart was always affected. Non-typical heart rates and rhythm is also one of the common indications of heterotaxy. When it comes to diagnosing the condition, it’s common to use X-ray tests to determine the exact position of organs and look for some other anatomic changes that may indicate heterotaxy.
Causes and treatment
Other than genetic mutations during fetal development, there aren’t any other causes to be confirmed. Other than genetics, it’s expected for some external factors to play a role in this condition such as infections or exposure to some matter. Depending on the severity of the condition, different treatment takes place. After proper diagnosis, it is necessary to determine the exact plan of treatment which may include heart surgery to correct any issues physically. Since the condition has a big effect on heart beat and its rhythm, a pacemaker might also serve as a valuable tool towards decreasing the effects of the condition and improving life quality of the patient. In general, immune system is highly affected by this condition which means that patients my need to use antibiotic supplements in order to avoid certain illnesses which wouldn’t otherwise represent a threat.
Is it life threatening?
Prognosis of heterotaxy highly depends on its intensity. The condition can easily be controlled with surgery to correct the irregularities within baby’s first year of life which is critical for the future life. Living normally is definitely a possibility, as long as the treatment is proper, detailed and consistent, including surgery and post-surgery methods of treatment.