Clinical Trial: Dyskinesia, Heterotaxy and Congenital Heart Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



Official Title: Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease

Brief Summary:

This study will examine genetic material obtained from blood and tissue samples of patients with congenital heart disease (CHD) and heterotaxy (an abnormality in the left-right positioning of organs in the body, also called situs inversus) to gain a better understanding of these disorders and of a lung disease called primary ciliary dyskinesia (PCD). CHD is prevalent in patients with heterotaxy. It is believed that certain forms of CHD or heterotaxy may have the same genetic origin as PCD.

Individuals 2 years of age or older who have a CHD or heterotaxy or both may be eligible for this study. Participants undergo some or all of the following tests and procedures:

  • Blood tests, electrocardiogram (EGC) and chest x-ray.
  • Saliva collection: Subjects rinse their mouth with water, and then spit approximately 1.5 cc of saliva into a sterile container.
  • Buccal swabs: A small soft, toothbrush-like swab is rubbed on the inside lining of the cheek to collect tissue samples.
  • Nasal tests to measure nasal nitric oxide levels and to obtain tissue samples from the inside of the nostrils: For the nitric oxide level test, a rubber probe is inserted into one of the nostrils until it fits snugly and comfortably. The subject then takes a deep breath and then exhales all the way out through the mouth through a plastic device. During exhalation, gas measurements are recorded on a computer. To obtain tissue samples, a device is inserted in a nostril and scraped gently against the inside of the nose.
  • Echocardiography: This ultrasound test of the heart uses sound waves to obtain pictures of the heart. A small wand with a warm clear gel is moved around the chest to obtain the images.