Protocol Number: 08-H-0067

Title:

Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia with Heterotaxy and Complex Congenital Heart Disease

Number:

08-H-0067

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.

-Abdominal ultrasound: This ultrasound test of the heart uses sound waves to obtain pictures of the abdominal organs. A small wand with a warm clear gel is moved around the abdomen to obtain the images.

Sponsoring Institute:

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Patients who have diagnosed heterotaxy or situs inversus will be asked to participate in this study regardless of sex, age, or race. In addition, patients who have diagnosed PCD or Kartagener syndrome with documentation or high clinical suspicion of heterotaxy or situs inversus will also be recruited to participate in this study. There is no known ethnic or racial predilection for heterotaxy, situs inversus, PCD, or Kartagener syndrome.

EXCLUSION CRITERIA:

There are no exclusion criteria. Certain conditions may preclude specific procedures included in this protocol, but may still allow pertinent parts of the diagnostic evaluation. These conditions/procedures may include: pregnancy/chest radiograph. For reversible conditions, such as acute upper airway infection, significant epistaxis within the prior week (not related to number 2 below), or lower airway infection with uncontrollable coughing, the participant may need to be re-evaluated after resolution. For nasal NO or nasal mucosal scrapings, the following lists the absolute contraindications:

1. Anatomic abnormality of the nose or sinuses (e.g. complete sinus blockage or turbinatectomy) that precludes the measurement of nasal NO.

2. A severe bleeding diathesis or condition, such as hereditary hemorrhagic telangiectasia syndrome, that may predispose to significant nasal bleeding or result in a severely excoriated nasal mucosa.

Special Instructions:

Currently Not Provided

Keywords:

Heterotaxy

Primary Ciliary Dyskinesia

Congenital Heart Disease

Genetic Study

Situs Inversus

Recruitment Keyword(s):

Congenital Heart Disease

Condition(s):

Ciliary Dyskinesia, Primary

Kartagener Syndrome

Congenital Heart Defects

Situs Inversus

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Heart, Lung, and Blood Institute

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Aylsworth AS.Clinical aspects of defects in the determination of laterality.Am J Med Genet. 2001 Jul 15;101(4):345-55. Review.

Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, Delozier-Blanchet CD, Craigen WJ, Antonarakis SE.Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. Epub 2002 Jul 25.

Bisgrove BW, Yost HJ.The roles of cilia in developmental disorders and disease.Development. 2006 Nov;133(21):4131-43. Epub 2006 Oct 4. Review.

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