Figure 2.

Cardiac findings in a patient with a hemizygous TMEM87B mutation and 2q13 microdeletion. (A) At 2 mo, a moderate atrial septal defect (arrow) was noted in this patient. (B) At 8 mo, a significant enlargement of his right atrium was noted with bidirectional flow suggestive of restriction of the right ventricle myocardium. At 15 mo, his diagnostic heart catheterization demonstrated restrictive physiology consistent with a restrictive cardiomyopathy. Echocardiogram from a healthy individual is shown on the right. RA, right atrium; LA, left atrium; RV, right ventricle; LV, left ventricle.