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Neonatal Death Caused by Interrupted Aortic Arch Associated With 22q11.2 Deletion Syndrome

An Autopsy Case Report

Shinkawa, Norihiro, MD, PhD*†; Yamaguchi, Masatoshi, MD, PhD; Ozaki, Mamoru, PhD§; Yukawa, Nobuhiro, MD, PhD*

The American Journal of Forensic Medicine and Pathology: June 2019 - Volume 40 - Issue 2 - p 178–182
doi: 10.1097/PAF.0000000000000454
Case Reports
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A case of clinically unsuspected fatal interrupted aortic arch (IAA) is described. A 17-day-old Japanese girl unexpectedly entered respiratory arrest at home. On autopsy, the heart was hypertrophic, with no apparent connection between the ascending and descending aortas. The ascending aorta branched into common carotid and right subclavian arteries, whereas the left subclavian artery arose from the descending aorta, which was supplied by the ductus arteriosus, indicating type B IAA. In addition, ventricular septal defect, bicuspid aortic valve, patent foramen ovale, and thymic aplasia were identified. The immediate cause of death was assumed to be “ductal shock.” Because of the known strong association between type B and 22q11.2 deletion, her parents received genetic counseling and requested chromosomal analysis of the child. Fluorescence in situ hybridization worked well on a frozen blood sample, identifying the suspected deletion. This case was thus diagnosed as 22q11.2 deletion syndrome exhibiting IAA and thymic defect.

From the *Section of Legal Medicine, Department of Social Medicine, Faculty of Medicine, University of Miyazaki; and

Radiology Division and

Division of Clinical Genetics, Faculty of Medicine, University of Miyazaki Hospital, Miyazaki; and

§Division of Genomic Medicine, Kanazawa Medical University, Ishikawa, Japan.

Manuscript received September 6, 2018; accepted October 26, 2018.

The authors report no conflict of interest.

This research did not receive any specific grants from funding agencies in the public, commercial, or not-for-profit sectors.

Reprints: Norihiro Shinkawa, MD, PhD, Section of Legal Medicine, Department of Social Medicine, Faculty of Medicine, University of Miyazaki, Kiyotake-cho Kihara 5200, Miyazaki 889-1692, Japan. E-mail: norihiro_shinkawa@med.miyazaki-u.ac.jp.

© 2019 by Lippincott Williams & Wilkins.