Molecular Genetics of Heterotaxy and Related Congenital Heart Defects

Heterotaxy syndrome is a congenital anomaly syndrome accompanied by thoracic and abdominal situs abnormalities. The study cohort comprises of individuals with heterotaxy or related congenital heart disease (CHD) who have undergone exome sequencing. The purpose of the study is to elucidate the molecular genetics of the disorder as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry. These results will further help delineate genotype-phenotype associations and provide important information on the causes, management, and prognosis of heterotaxy syndrome.]]> Inclusion criteria Subjects with heterotaxy or related congenital heart defects Family members of subjects with heterotaxy or related congenital heart defects Exclusion criteria Patients without heterotaxy or related congenital heart defects Family members of subjects without heterotaxy or related congenital heart defects ]]>