[4D FLOW Magnetic Resonance Imaging in the Study of Blood Flow in Patients With Aortic Coarctation in the Long-Term After Surgery].

Aim      Comprehensive evaluation of blood flow in the thoracic aorta using a software for 4D processing of magnetic resonance (MR) images of the heart and blood vessels (4D Flow) in patients with aortic coarctation in the late postoperative period.Materials and methods The MR study of the heart was performed for 10 patients (7 boys and 3 girls) aged 8 to 13 years (median, 9.5 [8.3; 10.8] years) who underwent resection with end-to-end anastomosis for aortic coarctation at age of 2 weeks to 10 months. MR tomography was performed on a 1.5 T MR scanner using a multichannel surface coil for scanning, electrocardiographic synchronization, and a specialized package of pulse sequences for scanning of the heart. Blood flow was evaluated with a 4D data handling software for processing of MR images of heart and blood vessels (4D Flow). The following blood flow parameters were analyzed: blood flow volume per second, peak blood flow velocity, peak and minimum blood flow area at the levels of ascending aorta, arch, isthmus, and descending aorta, and pressure gradient at the level of maximum narrowing of the aorta. 3D-MR images were used for evaluation of aortic geometry. Blood flow formation, distribution, and trajectories were analyzed by maps of vectors, particle trace, and stream lines. Statistical analysis was performed with a Statistica (v. 6.0 StatSoft Inc.) package.Results Accelerated flow in the region of residual aortic stenosis in systole was observed in all patients; 4 patients had an additional vortex flow below the aortic stenosis and a spiral flow in the descending aorta. The pressure gradient on the aortic isthmus was directly correlated with the left ventricular myocardial mass index (r=0.65; р=0.04) and indexes of blood flow in the ascending and descending aorta (р=0.03; р=0.026). No significant correlation was found for blood flow indexes and geometry of the aortic arch (H / L). Delayed contrast enhancement MR imaging did not detect any fibrotic changes in the myocardium in only one patient. The fibrosis severity inversely correlated with the right ventricular ejection fraction (r=0.65; р=0.04) and directly correlated with the pressure gradient at the aortic isthmus (r=0.63; p=0.05).Conclusion      The 4D MR image processing software for the heart and blood vessels allows studying the blood flow in detail under natural conditions, provides potential advantages in comprehensive evaluation of patients with aortic coarctation during a dynamic follow-up. For a definitive conclusion about the relationship between the altered blood flow in the thoracic aorta and markers of residual, post-correction pathology, larger studies are required as well as long-term follow-up of patients with documented pathological patterns of blood flow (changes in blood flow velocity and volume throughout the entire thoracic aorta in combination with disorders in the normal flow geometry during the cardiac cycle).

[Genetic and clinical characteristics of 22q11.2 deletion syndrome].

In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.2 deletion syndrome (22q11.2DS). Sequencing of the TBX1 gene did not detect any mutations, except for some common neutral polymorphisms. For the first time in the Russian Federation, the diagnostic efficiency of 22q11.2DS appeared to be 32%, as a result of the application of a combination of genetic approaches for a large group of patients with suspected 22q11.2DS.