Genetic Analysis of Heterotaxy in a Consanguineous Cohort.

Heterotaxy (HTX) is a group of clinical conditions with a shared pathology of dislocation of one or more organs along the left-right axis. The etiology of HTX is tremendously heterogeneous spanning environmental factors, chromosomal aberrations, mono/oligogenic variants, and complex inheritance. However, in the vast majority of cases, the etiology of HTX remains elusive.

The role of 3D echocardiographic imaging in the differential diagnosis of an atypical left atrial myxoma.

We describe a case of a left atrial myxoma atypical for its anatomical features and site of attachment. Although an initial multimodality imaging was performed, the diagnosis of myxoma was possible only by three dimensional echocardiography (3DE) which was able to identify the pedicle and the attachment at the base of the interatrial septum, close to the origin of right inferior pulmonary vein. In fact the 3DE can electronically section the structures and obtain unique planes useful in visualizing correctly the anatomical features of the myxomas and as a result, it facilitates the surgical decision planning.