Isolated abdominal aortic tortuosity diagnosed by fetal echocardiography
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Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective-tissue disorder associated with elongation, tortuosity, stenosis, and aneurysms of the large and mid-sized arteries . The symptoms of ATS, such as severe neonatal hypertension , can be potentially critical, and close monitoring and extensive vascular imaging are warranted . Although fetal diagnosis of ATS  is clinically relevant, it has been rarely reported. We report a case of isolated abdominal aortic tortuosity (iAAT), similar to AAT in ATS, diagnosed by fetal echocardiography.
The authors thank Dr. Hiroko Morisaki and the Kazusa DNA Research Institute for their assistance with the genetic testing.
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Conflict of interest and source of funding
Hirotaka Ishido, Kazunori Baba, Saki Maeda, Hiromi Doi, and Yoichi Iwamoto declare that they have no conflict of interest or funding-related information. Hideaki Senzaki has received a honorarium from Abbie and research grant from Japan Blood Products Organization, Chugai, Pfizer, Mitsubishi Tanabe Pharma Corporation, MSD, GlaxoSmithKline, and Maruho. Satoshi Masutani has received a honorarium from Hitachi, Japan Blood Products Organization, Abbie, Bayer Yakuhin, Actelion Pharmaceuticals Japan, and Nippon Shinyaku and research grant from Actelion Pharmaceuticals Japan, Nippon Shinyaku, and TEIJIN.
Human rights statements and informed consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964 and later revisions.
Informed consent was obtained from the parents of the patient for being included in the study.
Animation 1A and 1B correspond to the figure 1A and 1B, respectively. (AVI 2870 kb)
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