Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Congenital Heart Defects, Heterotaxy Syndrome

Abnormalities, Multiple, Asplenia, Bilary Atresia, Birth Defect, Cardiovascular Abnormalities, Cardiovascular Diseases, Congenital Abnormalities, Congenital Heart Disease, Dextrocardia Syndrome, Disturbed Internal Organ Positioning, Genetics, Genetic Testing, Heart Defects, Congenital, Heart Diseases, Heterotaxy syndrome, Intestinal malrotation, Laterality, Left Atrial Isomerism, Pediatrics, Polysplenia, Right Atrial Isomerism, Splenic Diseases, Cilia, Situs inversus, Dextrocardia

The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.

Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. Many cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and related congenital heart defects in the vast majority of children has hindered management and therapy. The study outlined in this protocol is designed to obtain information about the causes of heterotaxy and related congenital heart defects. In this study, investigators will perform genetic analyses on patients with heterotaxy and related congenital heart defects, or individuals at risk for these abnormalities. The investigators will collect medical information related to symptoms and disease course. These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects.

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