Hirschsprung disease with cardiac defects and autonomic dysfunction (HCAD) is a form of Hirschsprung disease, a congenital condition caused by absence of nerves in a portion of the large intestine. This absence of nerves makes it difficult to pass stool. Symptoms of Hirschsprung disease include not having bowel movements or trouble controlling bowel movements. It is often detected in newborns when they do not pass stool in the days following birth.
HCAD occurs when Hirschsprung disease is combined with face, hand and heart defects, as well as problems with the autonomic nervous system (system that controls involuntary bodily functions). Defects from HCAD may include cupped ears, a small, high-bridged nose, oddly shaped fingers and hands, or holes in the walls of the heart chambers. Problems with the autonomic nervous system may include a fast heartbeat (tachycardia), high blood pressure (hypertension), and high body temperature.
HCAD is genetic condition that involves changes in the ECE1 gene. We typically inherit two copies of a gene, one from each parent. HCAD is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition.
The broader condition of Hirschsprung disease can be diagnosed by looking at the large intestine with X-rays to see whether there is a blockage of stool, tests that measure muscle relaxation around the intestinal region, and samples of the intestine tissue. Often, this condition is treated with surgery to take out the part of the colon that does not have nerve cells. Following this surgery, most children are able to pass stool normally.
If you or a family member has been diagnosed with this condition, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Aug 25, 2018