Cardiac Magnetic Resonance Imaging for Accurate Diagnosis of Aortic Arch Anomalies in Patients with 22q11.2 Deletion

This study demonstrates, in patients with 22q11.2 deletion, the wide variety of complex aortic arch anomalies that can be accurately defined by cardiac magnetic resonance imaging (MRI) compared with echocardiography. From May 1999 to August 2003, 17 of 68 patients (25%) with 22q11.2 deletion referred for cardiac evaluation required cardiac MRI, after echocardiography, to clarify aortic arch anatomy. Images of cardiac anatomy were obtained using steady-state free precession, half-Fourier acquired single turbo spin-echo dark blood sequences and gadolinium for 3-dimensional reconstruction. All MRI findings were abnormal, and in 16 of 17 cases, echocardiography was unable to define aortic arch anomalies correctly compared with MRI.