Genetic Analysis of Left-Right Axis Formations
Congenital Heart Disease
About this trial
This is an observational trial for Congenital Heart Disease focused on measuring Laterality, Heterotaxy, Holoprosencephaly, Genetic Testing, Congential Cardiac Malformations, Disturbed Internal Organ Positioning
Eligibility Criteria
INCLUSION CRITERIA: This research protocol is open to all participants with a known or suspected diagnosis of L-R axis malformations. Nationality or place of origin are not specific barriers to participation, provided that a blood or tissue sample can be safely sent by international FedEx (to be billed to our account). Direct blood relatives (typicially parents, and occasionally affected siblings) of patients with L-R malformations are also eligible to participate. EXCLUSION CRITERIA: Anyone unwilling to provide informed consent (for themselves as adults, or on behalf of their children as minors) or assent. Medical condition(s) are not in themselves reason for exclusion if in the judgment of the referring physician this would involve no more than minimal risk. We generally review a brief clinical description from the referring physician about a potential research subject to determine that the subject is appropriate to enter into the study. We reserve the right to exclude cases that are clearly not related to our direct research interests (e.g. patients born with defects in the heart chambers, such as simple atrial or ventricular septal defects, would generally be excluded from this study).
Sites / Locations
- National Human Genome Research Institute (NHGRI), 9000 Rockville Pike