Heterotaxy: Dear Kendra, what is heterotaxy and how does it affect ones body?
May 11, 2008 by Kendra James, RN
Filed under Diseases & Conditions
I was examining my search items for this site as of recent and found quite a few for heterotaxy. So this is a Dear Kendra of sorts…
What is heterotaxy?
First, heterotaxy has a prevalence of less then 0.1% but is thought to account for1% of infant mortality. Heterotaxy is also called asplenia. Asplenia is a heterogeneous disease that primarily affects the asymmetric organs, including the heart, liver, intestines, and spleen. Heterogeneous meaning genetic. Primarily, this disease includes cyanotic congenital heart disease, asplenia, and intestinal malrotation. Asplenia is thought to have some familial predisposition. Embryologically, it results from failure of development of right-left asymmetry. All thoracic and abdominal organs can be affected but the function of these organs is affected minimally.
Cardiac manifestations can range from minor to severe and are related to incomplete or impaired rotation of the heart. Common cardiac findings- persistence of a left-sided superior vena cava (SVC), anomalous pulmonary venous return, common atrium, endocardial cushion defects, and double outlet right ventricle. In addition, bilateral right atrial appendages may be present in at least 20% of patients with asplenia, and their presence is diagnostic of this syndrome.
Abdominal findings can include asplenia, transverse liver, and intestinal malrotation. Biliary tract abnormalities have also been described but are rarely of clinical significance.
Without surgery in the first year of life the mortality rate is upward of 95%. The 5 year mortality rate still stays high at 50%.
I have personally only run into 3 patients over the last 12 years that have had heterotaxy. One adult, two teen girls and they had each underwent some surgeries and have been on medication including antibiotics for most of their lives but otherwise were happy and leading a fulfilling life.
