screening recommendations for interrupted aortic arch

Therefore, IAA type B, per se, should be an indication for 22q11 deletion testing. This chapter will explore the history of interrupted aortic arch, the different types and associated anomalies, the surgical and medical management, the outcomes after surgery, and recommendations for long-term follow-up of patients with interrupted aortic arch. added newborn screening for CCHD to the Recommended Uniform Screening Panel. A 22q11 deletion in IAA type B may or may not be associated with the typical DGS phenotype. These data suggest that IAA type B is one of the most etiologically homogeneous congenital heart defects. In our patient population, a single, specific genetic defect is the basis for one half of the IAA type B cases. No small deletions or rearrangements were detected. FISH and Southern blot analyses using additional markers within the DiGeorge chromosomal region were performed on patients found not to be deleted in the initial FISH screening. The patient escaped early diagnosis at birth and presented few days later by a picture that mimicked severe sepsis and shock. FISH analysis was extended to a total of 22 patients with IAA type B and 11 of these (50%) were deleted. Case presentation This case represents a neonate with interrupted aortic arch (type B) and a very long segment of descending aorta hypoplasia and complex anatomy. From this group, 7 patients were deleted (including 4 of the 11 patients with IAA type B). This keeps the blood from reaching the lower body because the aorta is. Type A is less common (3045) and type C is rare. 20), of which type B is the most frequent (5070). Depending on the site of discontinuity, IAA is classified into three types (see Fig. 2 The use of prostaglandin E 1 has made it routinely possible to resuscitate and support. Interrupted aortic arch (IAA) is a problem where the aorta has an absent portion. Interrupted aortic arch (IAA) is a structural heart defect characterized anatomically by a discontinuity (interruption) along the aortic arch. When two ventricles are present, there is almost always an interventricular communication, 1 and frequently there is some degree of obstruction or hypoplasia of the outflow tract of the subaortic ventricle. Synonyms Interrupted aortic arch Modes of inheritance Not genetically inherited (Orphanet) Summary Non-continuity of the arch of aorta with an atretic point or absent segment. An evaluation was performed on 73 patients with conotruncal heart defects using fluorescence in situ hybridization (FISH) analysis with probes from the 22q11 DGS locus. Interrupted aortic arch occurs in association with a wide variety of intracardiac malformations. The present study was designed to establish the involvement of the 22q11 locus in the etiology of IAA type B, independently from the typical DGS phenotype. The great majority of DGS cases are associated with hemizygous deletions at the chromosome 22q11 locus. IAA type B has been associated with DiGeorge syndrome (DGS), which includes conotruncal heart defects, T-cell immunodeficiency, hypocalcemia, and facial abnormalities. Interrupted aortic arch (IAA) type B is a congenital heart defect believed to be caused by an anomaly of bronchial arch mesenchymal development.

Screening recommendations for interrupted aortic arch